. 2021 Jul 20;9(8):e1756. doi: 10.1002/mgg3.1756

TABLE 1.

Disease‐causing variants for which carrier state was identified in at least one Syrian Jewish individual with 4 Syrian Jewish grandparents at Dor Yeshorim

Variant name	Chromosome	Position (hg38)	rsID	Ref	Alt	Gene	OMIM Gene	Nucleotide change^a	Amino acid change^b	Phenotype	Syrian Jewish carrier frequency (no. carriers/n)	Syrian Jewish carrier frequency %	Ashkenazi Jewish carrier frequency (no. carriers/n)	Ashkenazi Jewish carrier frequency %	Followed up in Table 2
ABCC8:c.3989‐9G>A	chr11	17397055	rs151344623	C	T	ABCC8	600509	NM_000352.6:c.3989‐9G>A	splice acceptor	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	1/339	0.29	3969/235602	1.68	NO
AGXT:c.731T>C	chr2	240875159	rs121908525	T	C	AGXT	604285	NM_000030.3:c.731T>C	NP_000021.1:p.Ile244Thr	PRIMARY HYPEROXALURIA TYPE 1	4/369	1.08	0/21050	0.00	YES
ARSA:c.449C>T	chr22	50627182	rs199476375	G	A	ARSA	607574	NM_000487.6:c.449C>T	NP_000478.3:p.Pro150Leu	METACHROMATIC LEUKODYSTROPHY	5/376	1.33	1/51587	0.00	YES
ARSA:c.854+3A>G	chr22	50626588	rs1057524566	T	C	ARSA	607574	NM_000487.6:c.854+3A>G	splice donor	METACHROMATIC LEUKODYSTROPHY	5/376	1.33	0/46388	0.00	YES
BLM:c.2208T>G	chr15	90766924	rs865899765	T	G	BLM	604610	NM_000057.4:c.2208T>G	NP_000048.1:p.Tyr736Ter	BLOOM SYNDROME	1/404	0.25	3265/335777	0.97	NO
CFTR:c.3846G>A	chr7	117642566	rs77010898	G	A	CFTR	602421	NM_000492.4:c.3846G>A	NP_000483.3:p.Trp1282Ter	CYSTIC FIBROSIS	3/435	0.69	6721/335635	2.00	NO
CFTR:c.254G>A	chr7	117509123	rs75961395	G	A	CFTR	602421	NM_000492.4:c.254G>A	NP_000483.3:p.Gly85Glu	CYSTIC FIBROSIS	2/381	0.52	0/97562	0.00	YES
CFTR:c.1624G>T	chr7	117587778	rs113993959	G	T	CFTR	602421	NM_000492.4:c.1624G>T	NP_000483.3:p.Gly542Ter	CYSTIC FIBROSIS	2/435	0.46	737/335635	0.22	NO
CFTR:c.1521_1523del	chr7	117559590	rs113993960	ATCT	A	CFTR	602421	NM_000492.4:c.1521_1523del	NP_000483.3:p.Phe508del	CYSTIC FIBROSIS	2/438	0.46	3965/335635	1.18	YES
CFTR:c.2989‐1G>A	chr7	117610518	rs397508470	G	A	CFTR	602421	NM_000492.4:c.2989‐1G>A	splice acceptor	CYSTIC FIBROSIS	1/329	0.30	0/223335	0.00	NO
CNGB3:c.467C>T	chr8	86670970	rs139207764	G	A	CNGB3	605080	NM_019098.4:c.467C>T	NP_061971.3:p.Ser156Phe	ACHROMATOPSIA	7/376	1.86	26/44392	0.06	YES
COL6A2:c.1402C>T	chr21	46121067	rs374669775	C	T	COL6A2	120240	NM_001849.3:c.1402C>T	NP_001840.3:p.Arg468Ter	ULLRICH CONGENITAL MUSCULAR DYSTROPHY TYPE 1	13/331	3.93	0/5922	0.00	YES
CYP11B1:c.992C>T	chr8	142875841	rs1326688256	G	A	CYP11B1	610613	NM_000497.3:c.992C>T	NP_000488.3:p.Ala331Val	CONGENITAL ADRENAL HYPERPLASIA	10/376	2.66	0/44988	0.00	YES
DHCR7:c.964‐1G>C	chr11	71435840	rs138659167	C	G	DHCR7	602858	NM_001360.3:c.964‐1G>C	splice acceptor	SMITH‐LEMLI‐OPITZ SYNDROME	2/227	0.88	2016/88773	2.27	NO
DSE:c.387delC	chr6	116399636	N/A	AC	A	DSE	605942	NM_013352.4:c.387delC	NP_037484.1:p.Tyr129Ter	EHLERS‐DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE2	1/369	0.27	0/21009	0.00	YES
ESCO2:c.1674‐2A>G	chr8	27803304	rs80359869	A	G	ESCO2	609353	NM_001017420.3:c.1674‐2A>G	splice acceptor	ROBERTS SYNDROME	2/376	0.53	0/51519	0.00	YES
FAM161A:c.1567C>T	chr2	61839437	rs202193201	G	A	FAM161A	613596	NM_001201543.2:c.1567C>T	NP_001188472.1:p.Arg523Ter	RETINITIS PIGMENTOSA 28	3/154	1.95	1/49492	0.00	NO
FXN:GAA expansion	chr9	69037287	N/A	GAA	GAA>>	FXN	606829	NM_000144:GAA expansion	N/A	FRIEDREICH ATAXIA	3/331	0.91	14/5109	0.27	YES
G6PC:c.247C>T	chr17	42903947	rs1801175	C	T	G6PC1	613742	NM_000151.4:c.247C>T	NP_000142.2:p.Arg83Cys	GLYCOGEN STORAGE DISEASE TYPE 1A	2/397	0.50	4816/335799	1.43	NO
GBA:c.1448T>C	chr1	155235252	rs421016	A	G	GBA	606463	NM_000157.4:c.1448T>C	NP_000148.2:p.Leu483Pro	GAUCHER DISEASE	1/101	0.99	88/72333	0.12	NO
GJB2:c.167del	chr13	20189414	rs80338942	CA	C	GJB2	121011	NM_004004.6:c.167del	NP_003995.2:p. Leu56fs	NONSYNDROMIC DEAFNESS	8/368	2.17	929/32870	2.83	YES
GJB2:c.269T>C	chr13	20189313	rs80338945	A	G	GJB2	121011	NM_004004.6:c.269T>C	NP_003995.2:p.Leu90Pro	NONSYNDROMIC DEAFNESS	1/104	0.96	7/32171	0.02	NO
GNE:c.2228T>C	chr9	36217399	rs28937594	A	G	GNE	603824	NM_001128227.3:c.2228T>C	NP_001121699.1:p.Met743Thr	INCLUSION BODY MYOPATHY (HIBM)	8/376	2.13	1/51647	0.00	YES
MLC1:c.176G>A	chr22	50084727	rs80358242	C	T	MLC1	605908	NM_015166.3:c.176G>A	NP_055981.1:p.Gly59Glu	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1	1/273	0.37	0/53648	0.00	NO
MMACHC:c.271dup	chr1	45507544	rs398124292	T	TA	MMACHC	609831	NM_015506.3:c.271dup	NP_056321.2:p.Arg91fs	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE	1/154	0.65	372/49724	0.75	NO
NDUFS4:c.355G>C	chr5	53658555	rs747359752	G	C	NDUFS4	602694	NM_002495.4:c.355G>C	NP_002486.1:p.Asp119His	LEIGH SYNDROME TYPE 1	2/376	0.53	0/46275	0.00	YES
OTOF:c.5193‐1G>A	chr2	26462182	rs111033373	C	T	OTOF	603681	NM_194248.3:c.5193‐1G>A	splice acceptor	DEAFNESS, AUTOSOMAL RECESSIVE	4/101	3.96	0/30796	0.00	NO
OTOF:c.4227+1G>T	chr2	26467364	rs397515601	C	A	OTOF	603681	NM_194248.3:c.4227+1G>T	splice donor	DEAFNESS, AUTOSOMAL RECESSIVE	1/102	0.98	0/30826	0.00	NO
PEX2:c.355C>T	chr8	76983824	rs61752123	G	A	PEX2	170993	NM_000318.3:c.355C>T	NP_000309.2:p.Arg119Ter	PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)	1/154	0.65	379/49883	0.76	NO
SMPD1:c.1829G>A	chr11	6394540	rs140269316	G	A	SMPD1	607608	NM_000543.5:c.1829G>A	NP_000534.3:p.Arg610His	NIEMANN‐PICK DISEASE	1/93	1.08	0/25901	0.00	NO
SMPD1:c.1826_1828GCC	chr11	6394536	rs120074118	TGCC	T	SMPD1	607608	NM_000543.5:c.1826_1828GCC	NP_000534.3:p.Arg610del	NIEMANN‐PICK DISEASE	2/380	0.53	66/304382	0.02	NO
TRPM1:36.8KB DEL	chr15	31062999‐31099445	N/A	N/A	N/A	TRPM1	603576	36.8KB DEL, EX2‐7^c	N/A	CONGENITAL STATIONARY NIGHT BLINDNESS	2/133	1.50	946/37796	2.50	NO
VAC14:c.2005G>T	chr16	70695574	rs1363536856	C	A	VAC14	604632	NM_018052.5:c.2005G>T	NP_060522.3:p.Val669Leu	STRIATONIGRAL DEGENERATION	1/367	0.27	0/30779	0.00	YES

Variants are sorted alphabetically according to gene name and then by Syrian Jewish carrier frequency from highest to lowest. Carrier frequencies in individuals with 4 Ashkenazi Jewish grandparents are shown for comparison.

Abbreviations: N/A, not applicable; PMID, Pubmed ID.

^{^a}

Genbank transcript accession number:nucleotide change.

^{^b}

Genbank protein accession number:amino acid change (where relevant).

^{^c}

This copy number variant is described in PMID: 31645983.