ClinVar for Gene (Select 2584) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243128	NC_000017.10:g.(?_73720784)_(73761217_?)del	GALK1, ITGB4	Deletion	not provided	GPathogenic
Select item 3243041	NC_000017.10:g.(?_73720784)_(73975154_?)dup	ITGB4, FBF1 +9 more	Duplication	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 3242940	NC_000017.10:g.(?_73754587)_(73758319_?)del	GALK1	Deletion	Deficiency of galactokinase	GLikely pathogenic
Select item 3242939	NC_000017.10:g.(?_73754137)_(73760187_?)del	GALK1	Deletion	Deficiency of galactokinase	GPathogenic
Select item 3241660	NM_000154.2(GALK1):c.845_846del (p.Val282fs)	GALK1 (V282fs)	Deletion (frameshift variant)	Deficiency of galactokinase	GLikely pathogenic
Select item 3241659	NM_000154.2(GALK1):c.609C>A (p.Cys203Ter)	GALK1 (C203*)	Single nucleotide variant (nonsense)	Deficiency of galactokinase	GLikely pathogenic
Select item 3239666	NM_000154.2(GALK1):c.1083_1092del (p.Pro362fs)	GALK1 (P362fs)	Deletion (frameshift variant)	Deficiency of galactokinase	GLikely pathogenic
Select item 3239665	NM_000154.2(GALK1):c.1096del (p.Arg366fs)	GALK1 (R366fs)	Deletion (frameshift variant)	Deficiency of galactokinase	GLikely pathogenic
Select item 3239605	NM_000213.5(ITGB4):c.5132C>T (p.Pro1711Leu)	GALK1, ITGB4 (P1641L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3111468	NM_000213.5(ITGB4):c.5368G>A (p.Gly1790Ser)	GALK1, ITGB4 (G1720S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3111467	NM_000213.5(ITGB4):c.5203G>A (p.Glu1735Lys)	GALK1, ITGB4 (E1735K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3111466	NM_000213.5(ITGB4):c.5000C>T (p.Pro1667Leu)	GALK1, ITGB4 (P1597L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3111465	NM_000213.5(ITGB4):c.4801C>T (p.Arg1601Trp)	GALK1, ITGB4 (R1601W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3111464	NM_000213.5(ITGB4):c.4451C>T (p.Thr1484Ile)	GALK1, ITGB4 (T1414I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3111463	NM_000213.5(ITGB4):c.4406A>G (p.Tyr1469Cys)	GALK1, ITGB4 (Y1469C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3098034	NM_000154.2(GALK1):c.827G>A (p.Arg276Gln)	GALK1 (R276Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3098033	NM_000154.2(GALK1):c.76G>C (p.Ala26Pro)	GALK1 (A26P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3098031	NM_000154.2(GALK1):c.182C>T (p.Thr61Met)	GALK1 (T61M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3098030	NM_000154.2(GALK1):c.1130C>A (p.Thr377Asn)	GALK1 (T377N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3051623	NM_000213.5(ITGB4):c.4708+6G>T	GALK1, ITGB4	Single nucleotide variant (intron variant)	ITGB4-related disorder	GLikely benign
Select item 3050536	NM_000154.2(GALK1):c.355+4T>G	GALK1	Single nucleotide variant (intron variant)	GALK1-related disorder	GLikely benign
Select item 3034526	NM_000213.5(ITGB4):c.*1C>G	GALK1, ITGB4	Single nucleotide variant (3 prime UTR variant +1 more)	ITGB4-related disorder	GLikely benign
Select item 3032513	NM_000213.5(ITGB4):c.3977-24C>T	GALK1, ITGB4	Single nucleotide variant (intron variant)	ITGB4-related disorder	GLikely benign
Select item 3031117	NM_000213.5(ITGB4):c.5067A>G (p.Ala1689=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	ITGB4-related disorder	GLikely benign
Select item 3021973	NM_000213.5(ITGB4):c.4897+12C>G	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021937	NM_000213.5(ITGB4):c.3976+13C>A	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020353	NM_000213.5(ITGB4):c.4708+18C>T	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019361	NM_000213.5(ITGB4):c.5054-1G>T	GALK1, ITGB4	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 3018892	NM_000154.2(GALK1):c.611+15C>T	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 3018678	NM_000154.2(GALK1):c.98C>G (p.Ser33Ter)	GALK1 (S33*)	Single nucleotide variant (nonsense)	Deficiency of galactokinase	GPathogenic
Select item 3017490	NM_000154.2(GALK1):c.276G>A (p.Leu92=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 3014043	NM_000154.2(GALK1):c.794-12T>C	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 3010693	NM_000213.5(ITGB4):c.4563T>C (p.Ser1521=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3010239	NM_000213.5(ITGB4):c.5250G>A (p.Gly1750=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3010017	NM_000213.5(ITGB4):c.4709-8C>T	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009068	NM_000213.5(ITGB4):c.4098C>T (p.Ser1366=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3008357	NM_000213.5(ITGB4):c.4616T>C (p.Leu1539Pro)	GALK1, ITGB4 (L1469P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3007577	NM_000213.5(ITGB4):c.3976+10G>T	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007262	NM_000213.5(ITGB4):c.4575T>C (p.Ala1525=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3007047	NM_000213.5(ITGB4):c.5247C>T (p.Ala1749=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3006896	NM_000213.5(ITGB4):c.4558+14G>A	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006542	NM_000213.5(ITGB4):c.5412A>G (p.Thr1804=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3006365	NM_000213.5(ITGB4):c.4731C>T (p.Ile1577=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3005971	NM_000213.5(ITGB4):c.3840C>T (p.Asn1280=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3004686	NM_000213.5(ITGB4):c.3933G>A (p.Glu1311=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3002609	NM_000213.5(ITGB4):c.4404_4405insCATA (p.Tyr1469fs)	GALK1, ITGB4 (Y1399fs +1 more)	Insertion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3002284	NM_000213.5(ITGB4):c.5257C>T (p.Gln1753Ter)	GALK1, ITGB4 (Q1736* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3002052	NM_000154.2(GALK1):c.612-17T>C	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 3001049	NM_000154.2(GALK1):c.1108-17C>T	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 3000241	NM_000213.5(ITGB4):c.4709-14C>A	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998734	NM_000213.5(ITGB4):c.5259G>A (p.Gln1753=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998732	NM_000213.5(ITGB4):c.4071A>G (p.Pro1357=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998251	NM_000154.2(GALK1):c.611+11C>A	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2998143	NM_000154.2(GALK1):c.84C>T (p.Pro28=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2995769	NM_000213.5(ITGB4):c.4590G>A (p.Thr1530=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2995663	NM_000213.5(ITGB4):c.5218+14C>T	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994383	NM_000213.5(ITGB4):c.5219-13C>G	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994250	NM_000213.5(ITGB4):c.5409G>A (p.Arg1803=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2994128	NM_000154.2(GALK1):c.756G>A (p.Lys252=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2993968	NM_000213.5(ITGB4):c.4488C>G (p.Thr1496=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2992307	NM_000213.5(ITGB4):c.5430C>T (p.Thr1810=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991481	NM_000213.5(ITGB4):c.5053+18G>A	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987887	NM_000213.5(ITGB4):c.3882C>T (p.Tyr1294=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2985602	NM_000154.2(GALK1):c.944+20C>G	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2984771	NM_000213.5(ITGB4):c.5298C>T (p.Thr1766=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	ITGB4-related disorder +1 more	GLikely benign
Select item 2983887	NM_000213.5(ITGB4):c.5106C>A (p.Thr1702=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2983792	NM_000213.5(ITGB4):c.3977-14C>G	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983263	NM_000213.5(ITGB4):c.4108+20C>A	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981655	NM_000213.5(ITGB4):c.3906C>T (p.Asn1302=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2980660	NM_000213.5(ITGB4):c.5219-4C>G	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980255	NM_000213.5(ITGB4):c.5218+11G>A	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980089	NM_000213.5(ITGB4):c.4559-17C>A	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978909	NM_000213.5(ITGB4):c.4559-13C>T	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976681	NM_000213.5(ITGB4):c.5433T>C (p.Leu1811=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2974844	NM_000213.5(ITGB4):c.4086G>A (p.Arg1362=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971680	NM_000213.5(ITGB4):c.4559-16G>A	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971623	NM_000213.5(ITGB4):c.3976+14A>T	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970396	NM_000213.5(ITGB4):c.4056C>T (p.Asp1352=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2969885	NM_000213.5(ITGB4):c.5265G>A (p.Pro1755=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2969841	NM_000213.5(ITGB4):c.5054-8dup	GALK1, ITGB4	Duplication (intron variant)	not provided	GLikely benign
Select item 2969292	NM_000213.5(ITGB4):c.4428C>T (p.His1476=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2968619	NM_000213.5(ITGB4):c.4659C>G (p.Cys1553Trp)	GALK1, ITGB4 (C1536W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2968565	NM_000213.5(ITGB4):c.4545C>T (p.Ser1515=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967295	NM_000213.5(ITGB4):c.5275G>T (p.Glu1759Ter)	GALK1, ITGB4 (E1742* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2967224	NM_000213.5(ITGB4):c.4709-17C>T	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966990	NM_000154.2(GALK1):c.801G>A (p.Arg267=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2966259	NM_000213.5(ITGB4):c.4319-9_4319-8insGA	GALK1, ITGB4	Insertion (intron variant)	not provided	GLikely benign
Select item 2965925	NM_000213.5(ITGB4):c.5298C>A (p.Thr1766=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2965536	NM_000213.5(ITGB4):c.4319-11T>C	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965297	NM_000213.5(ITGB4):c.5413C>T (p.Leu1805=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2965215	NM_000213.5(ITGB4):c.4002C>T (p.Ile1334=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2964725	NM_000213.5(ITGB4):c.4752G>A (p.Ser1584=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2963610	NM_000213.5(ITGB4):c.5101C>T (p.Leu1701=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2962678	NM_000154.2(GALK1):c.21C>A (p.Pro7=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2962098	NM_000213.5(ITGB4):c.4898-16C>T	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961507	NM_000213.5(ITGB4):c.5329+17A>G	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961268	NM_000213.5(ITGB4):c.5016C>T (p.Val1672=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2960946	NM_000213.5(ITGB4):c.4941G>C (p.Leu1647=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2959535	NM_000154.2(GALK1):c.708C>T (p.Tyr236=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2958575	NM_000213.5(ITGB4):c.5218+9C>T	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign

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