ClinVar for Gene (Select 9837) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3099859	NM_021067.5(GINS1):c.382C>A (p.Leu128Met)	GINS1 (L43M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3023740	NM_021067.5(GINS1):c.25C>T (p.Leu9=)	GINS1, LOC130065587	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3008765	NM_021067.5(GINS1):c.330+13T>C	GINS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006961	NM_021067.5(GINS1):c.179C>G (p.Pro60Arg)	GINS1 (P60R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3000745	NM_021067.5(GINS1):c.457C>G (p.Leu153Val)	GINS1 (L114V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2994508	NM_021067.5(GINS1):c.357A>G (p.Arg119=)	GINS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2979948	NM_021067.5(GINS1):c.291C>T (p.Val97=)	GINS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2977458	NM_021067.5(GINS1):c.141-8C>T	GINS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970728	NM_021067.5(GINS1):c.140+15A>G	GINS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2969135	NM_021067.5(GINS1):c.141-10C>T	GINS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965315	NM_021067.5(GINS1):c.481G>A (p.Val161Ile)	GINS1 (V122I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2964799	NM_021067.5(GINS1):c.1A>G (p.Met1Val)	GINS1, LOC130065587 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2961389	NM_021067.5(GINS1):c.307C>T (p.Arg103Ter)	GINS1 (R103*)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 2960130	NM_021067.5(GINS1):c.141-3del	GINS1	Deletion (intron variant)	not provided	GUncertain significance
Select item 2955428	NM_021067.5(GINS1):c.67G>A (p.Ala23Thr)	GINS1, LOC130065587 (A23T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2916994	NM_021067.5(GINS1):c.257G>A (p.Arg86Gln)	GINS1 (R86Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2891398	NM_021067.5(GINS1):c.239+7T>C	GINS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890452	NM_021067.5(GINS1):c.371A>T (p.Tyr124Phe)	GINS1 (Y124F +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2862132	NM_021067.5(GINS1):c.43C>A (p.Arg15Ser)	GINS1, LOC130065587 (R15S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2859271	NM_021067.5(GINS1):c.308G>A (p.Arg103Gln)	GINS1 (R103Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2825499	NM_021067.5(GINS1):c.300T>C (p.Asn100=)	GINS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2822097	NM_021067.5(GINS1):c.447+1G>A	GINS1	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 2816633	NM_021067.5(GINS1):c.196C>T (p.His66Tyr)	GINS1 (H66Y)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2802582	NM_021067.5(GINS1):c.134C>G (p.Ser45Cys)	GINS1 (S45C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2801008	NM_021067.5(GINS1):c.295C>T (p.Pro99Ser)	GINS1 (P99S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2797594	NM_021067.5(GINS1):c.336G>A (p.Glu112=)	GINS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2797000	NM_021067.5(GINS1):c.140+1G>A	GINS1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2788398	NM_021067.5(GINS1):c.76-3T>C	GINS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2783939	NM_021067.5(GINS1):c.442A>G (p.Ile148Val)	GINS1 (I148V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2780755	NM_021067.5(GINS1):c.379T>G (p.Ser127Ala)	GINS1 (S127A +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2772505	NM_021067.5(GINS1):c.97C>G (p.Leu33Val)	GINS1 (L33V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2762543	NM_021067.5(GINS1):c.523-1G>C	GINS1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2758329	NM_021067.5(GINS1):c.400T>C (p.Leu134=)	GINS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2755575	NM_021067.5(GINS1):c.501C>T (p.Val167=)	GINS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2745853	NM_021067.5(GINS1):c.245A>G (p.Asp82Gly)	GINS1 (D82G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2745244	NM_021067.5(GINS1):c.490G>A (p.Gly164Ser)	GINS1 (G125S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2706919	NM_021067.5(GINS1):c.277G>A (p.Glu93Lys)	GINS1 (E93K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2705846	NM_021067.5(GINS1):c.424C>T (p.Pro142Ser)	GINS1 (P57S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2701519	NM_021067.5(GINS1):c.448-4T>C	GINS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2695289	NM_021067.5(GINS1):c.6C>G (p.Phe2Leu)	GINS1, LOC130065587 (F2L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2687965	NM_021067.5(GINS1):c.330+45G>C	GINS1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2652249	NM_021067.5(GINS1):c.372T>C (p.Tyr124=)	GINS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2635509	NM_021067.5(GINS1):c.416A>G (p.Asp139Gly)	GINS1 (D139G +1 more)	Single nucleotide variant (missense variant +2 more)	GINS1-related condition	GUncertain significance
Select item 2622916	NM_021067.5(GINS1):c.451C>T (p.Arg151Trp)	GINS1 (R112W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2560728	NM_021067.5(GINS1):c.265G>C (p.Ala89Pro)	GINS1 (A89P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2524856	NM_021067.5(GINS1):c.73A>G (p.Asn25Asp)	GINS1, LOC130065587 (N25D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2499655	GRCh38/hg38 20p11.21(chr20:25121080-25485829)	ABHD12, ENTPD6 +31 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2426657	NC_000020.10:g.(?_25394406)_(25426627_?)del	GINS1	Deletion	not provided	GUncertain significance
Select item 2426656	NC_000020.10:g.(?_25422318)_(25422432_?)del	GINS1	Deletion	not provided	GUncertain significance
Select item 2426655	NC_000020.10:g.(?_25319843)_(25388551_?)del	ABHD12, GINS1	Deletion	not provided	GUncertain significance
Select item 2423575	NC_000020.10:g.(?_25319843)_(25426627_?)del	ABHD12, GINS1	Deletion	not provided	GPathogenic
Select item 2420796	NM_021067.5(GINS1):c.383T>A (p.Leu128Gln)	GINS1 (L128Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2418354	NM_021067.5(GINS1):c.331-10_331-9del	GINS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2414261	NM_021067.5(GINS1):c.218G>A (p.Arg73Gln)	GINS1 (R73Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2402668	NM_021067.5(GINS1):c.16G>T (p.Ala6Ser)	GINS1, LOC130065587 (A6S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297590	NM_021067.5(GINS1):c.94G>C (p.Val32Leu)	GINS1 (V32L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2190824	NM_021067.5(GINS1):c.255T>C (p.Leu85=)	GINS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2183802	NM_021067.5(GINS1):c.522+3A>G	GINS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2174933	NM_021067.5(GINS1):c.298A>G (p.Asn100Asp)	GINS1 (N100D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2134658	NM_021067.5(GINS1):c.239+1G>T	GINS1	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 2133773	NM_021067.5(GINS1):c.482T>C (p.Val161Ala)	GINS1 (V76A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2128049	NM_021067.5(GINS1):c.172T>C (p.Leu58=)	GINS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2118596	NM_021067.5(GINS1):c.523-15T>C	GINS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2114433	NM_021067.5(GINS1):c.244G>T (p.Asp82Tyr)	GINS1 (D82Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2113462	NM_021067.5(GINS1):c.264A>G (p.Arg88=)	GINS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2110270	NM_021067.5(GINS1):c.353A>G (p.Lys118Arg)	GINS1 (K118R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2108745	NM_021067.5(GINS1):c.205C>T (p.Leu69=)	GINS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2101786	NM_021067.5(GINS1):c.56G>A (p.Gly19Glu)	GINS1, LOC130065587 (G19E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2083380	NM_021067.5(GINS1):c.164G>T (p.Arg55Leu)	GINS1 (R55L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2047357	NM_021067.5(GINS1):c.140+12A>G	GINS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2027379	NM_021067.5(GINS1):c.405del (p.Asp135fs)	GINS1 (D135fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2027202	NM_021067.5(GINS1):c.520C>T (p.Gln174Ter)	GINS1 (Q89* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2008027	NM_021067.5(GINS1):c.197A>C (p.His66Pro)	GINS1 (H66P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2006661	NM_021067.5(GINS1):c.331-9T>C	GINS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2002424	NM_021067.5(GINS1):c.185T>C (p.Ile62Thr)	GINS1 (I62T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1992836	NM_021067.5(GINS1):c.75+6G>A	GINS1, LOC130065587	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1978203	NM_021067.5(GINS1):c.268C>T (p.Leu90Phe)	GINS1 (L90F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1975789	NM_021067.5(GINS1):c.587C>T (p.Ser196Leu)	GINS1 (S111L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1974927	NM_021067.5(GINS1):c.365C>T (p.Ala122Val)	GINS1 (A122V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1967340	NM_021067.5(GINS1):c.63G>A (p.Leu21=)	GINS1, LOC130065587	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1948251	NM_021067.5(GINS1):c.447+11C>A	GINS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1944719	NM_021067.5(GINS1):c.126A>G (p.Gln42=)	GINS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1937063	NM_021067.5(GINS1):c.330+11A>G	GINS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934964	NM_021067.5(GINS1):c.518G>C (p.Ser173Thr)	GINS1 (S134T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1931958	NM_021067.5(GINS1):c.19A>G (p.Met7Val)	GINS1, LOC130065587 (M7V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1928393	NM_021067.5(GINS1):c.533C>T (p.Pro178Leu)	GINS1 (P178L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1926320	NM_021067.5(GINS1):c.494C>T (p.Thr165Ile)	GINS1 (T126I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1923204	NM_021067.5(GINS1):c.149C>T (p.Ala50Val)	GINS1 (A50V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1919672	NM_021067.5(GINS1):c.181A>C (p.Thr61Pro)	GINS1 (T61P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1917387	NM_021067.5(GINS1):c.316A>G (p.Met106Val)	GINS1 (M106V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1909804	NM_021067.5(GINS1):c.284G>A (p.Gly95Asp)	GINS1 (G95D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1809464	GRCh37/hg19 20p11.21-11.1(chr20:25208244-25734692)x3	ABHD12, GINS1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1718153	NM_021067.5(GINS1):c.299A>G (p.Asn100Ser)	GINS1 (N100S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1718135	NM_021067.5(GINS1):c.199T>G (p.Cys67Gly)	GINS1 (C67G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1690902	NM_021067.5(GINS1):c.175A>T (p.Ile59Leu)	GINS1 (I59L)	Single nucleotide variant (missense variant +1 more)	See cases +1 more	GUncertain significance
Select item 1671349	NM_021067.5(GINS1):c.81T>C (p.Asp27=)	GINS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1661952	NM_021067.5(GINS1):c.76-18T>C	GINS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1661943	NM_021067.5(GINS1):c.330+17dup	GINS1	Duplication (intron variant)	not provided	GLikely benign
Select item 1653373	NM_021067.5(GINS1):c.448-19C>T	GINS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1643579	NM_021067.5(GINS1):c.447+12T>G	GINS1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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