6523[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 1286065	NC_000022.11:g.32042954T>C	SLC5A1	Single nucleotide variant	not provided	GBenign
Select item 902292	NM_000343.3(SLC5A1):c.-238G>A	SLC5A1	Single nucleotide variant	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 341227	NM_000343.3(SLC5A1):c.-170C>T	SLC5A1	Single nucleotide variant	Congenital glucose-galactose malabsorption	GBenign
Select item 341228	NM_000343.3(SLC5A1):c.-120C>T	SLC5A1	Single nucleotide variant	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 341229	NM_000343.3(SLC5A1):c.-60C>T	SLC5A1	Single nucleotide variant	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 341230	NM_000343.3(SLC5A1):c.-51G>A	SLC5A1	Single nucleotide variant	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 341231	NM_000343.3(SLC5A1):c.-36G>A	SLC5A1	Single nucleotide variant	Congenital glucose-galactose malabsorption	GLikely benign
Select item 341232	NM_000343.3(SLC5A1):c.-23G>A	SLC5A1	Single nucleotide variant	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 341233	NM_000343.4(SLC5A1):c.-11dup	SLC5A1	Duplication (5 prime UTR variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 437468	NM_000343.4(SLC5A1):c.9_11dup (p.Ser4dup)	SLC5A1	Duplication (inframe_insertion)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 341234	NM_000343.4(SLC5A1):c.6C>T (p.Asp2=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption +1 more	GBenign
Select item 1957819	NM_000343.4(SLC5A1):c.16T>C (p.Trp6Arg)	SLC5A1 (W6R)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 1654393	NM_000343.4(SLC5A1):c.30C>T (p.Thr10=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2887028	NM_000343.4(SLC5A1):c.33C>T (p.Thr11=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 1005551	NM_000343.4(SLC5A1):c.34G>A (p.Ala12Thr)	SLC5A1 (A12T)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption +1 more	GUncertain significance
Select item 502121	NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val)	SLC5A1 (A12V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1668636	NM_000343.4(SLC5A1):c.36G>C (p.Ala12=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 903161	NM_000343.4(SLC5A1):c.36G>A (p.Ala12=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GConflicting classifications of pathogenicity
Select item 3165186	NM_000343.4(SLC5A1):c.41C>G (p.Thr14Ser)	SLC5A1 (T14S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1389166	NM_000343.4(SLC5A1):c.41C>T (p.Thr14Ile)	SLC5A1 (T14I)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 1391045	NM_000343.4(SLC5A1):c.43C>T (p.Arg15Trp)	SLC5A1 (R15W)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption +1 more	GUncertain significance
Select item 1470498	NM_000343.4(SLC5A1):c.44G>A (p.Arg15Gln)	SLC5A1 (R15Q)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 789620	NM_000343.4(SLC5A1):c.50T>C (p.Val17Ala)	SLC5A1 (V17A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3165187	NM_000343.4(SLC5A1):c.53A>G (p.Glu18Gly)	SLC5A1 (E18G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2720969	NM_000343.4(SLC5A1):c.54G>A (p.Glu18=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 903162	NM_000343.4(SLC5A1):c.70C>T (p.Arg24Cys)	SLC5A1 (R24C)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 3002573	NM_000343.4(SLC5A1):c.75T>C (p.Asn25=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 12907	NM_000343.4(SLC5A1):c.82G>A (p.Asp28Asn)	SLC5A1 (D28N)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GPathogenic
Select item 12908	NM_000343.4(SLC5A1):c.83A>G (p.Asp28Gly)	SLC5A1 (D28G)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 1397738	NM_000343.4(SLC5A1):c.89C>T (p.Ser30Phe)	SLC5A1 (S30F)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 903163	NM_000343.4(SLC5A1):c.97G>A (p.Val33Ile)	SLC5A1 (V33I)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GConflicting classifications of pathogenicity
Select item 341235	NM_000343.4(SLC5A1):c.101T>C (p.Ile34Thr)	SLC5A1 (I34T)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2105855	NM_000343.4(SLC5A1):c.102C>T (p.Ile34=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 1548935	NM_000343.4(SLC5A1):c.114A>G (p.Val38=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 899541	NM_000343.4(SLC5A1):c.121G>A (p.Ala41Thr)	SLC5A1 (A41T)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2916932	NM_000343.4(SLC5A1):c.123C>T (p.Ala41=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 1945095	NM_000343.4(SLC5A1):c.126C>T (p.Val42=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 3341490	NM_000343.4(SLC5A1):c.127G>A (p.Gly43Arg)	SLC5A1 (G43R)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2802289	NM_000343.4(SLC5A1):c.135+9C>T	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 1929931	NM_000343.4(SLC5A1):c.135+10G>A	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 1568294	NM_000343.4(SLC5A1):c.135+12G>T	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2992882	NM_000343.4(SLC5A1):c.135+14T>G	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2961138	NM_000343.4(SLC5A1):c.135+16T>G	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 1650696	NM_000343.4(SLC5A1):c.136-17dup	SLC5A1	Duplication (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 341236	NM_000343.4(SLC5A1):c.152A>G (p.Asn51Ser)	SLC5A1 (N51S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1114047	NM_000343.4(SLC5A1):c.153T>C (p.Asn51=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 1396323	NM_000343.4(SLC5A1):c.154C>T (p.Arg52Cys)	SLC5A1 (R52C)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 1450841	NM_000343.4(SLC5A1):c.155G>A (p.Arg52His)	SLC5A1 (R52H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 899542	NM_000343.4(SLC5A1):c.158G>A (p.Gly53Glu)	SLC5A1 (G53E)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2913545	NM_000343.4(SLC5A1):c.162T>C (p.Thr54=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 1001392	NM_000343.4(SLC5A1):c.164T>C (p.Val55Ala)	SLC5A1 (V55A)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2980256	NM_000343.4(SLC5A1):c.171C>T (p.Gly57=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 1514798	NM_000343.4(SLC5A1):c.182C>A (p.Ala61Glu)	SLC5A1 (A61E)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 1402996	NM_000343.4(SLC5A1):c.182C>T (p.Ala61Val)	SLC5A1 (A61V)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 973540	NM_000343.4(SLC5A1):c.187C>T (p.Arg63Ter)	SLC5A1 (R63*)	Single nucleotide variant (nonsense)	Congenital glucose-galactose malabsorption	GPathogenic
Select item 1426486	NM_000343.4(SLC5A1):c.188G>A (p.Arg63Gln)	SLC5A1 (R63Q)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2436062	NM_000343.4(SLC5A1):c.194T>C (p.Met65Thr)	SLC5A1 (M65T)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 1946284	NM_000343.4(SLC5A1):c.196G>A (p.Val66Met)	SLC5A1 (V66M)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2633895	NM_000343.4(SLC5A1):c.200G>A (p.Trp67Ter)	SLC5A1 (W67*)	Single nucleotide variant (nonsense)	SLC5A1-related disorder	GLikely pathogenic
Select item 1060467	NM_000343.4(SLC5A1):c.206C>T (p.Pro69Leu)	SLC5A1 (P69L)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 1410101	NM_000343.4(SLC5A1):c.207+2dup	SLC5A1	Duplication (splice donor variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2983611	NM_000343.4(SLC5A1):c.207+19G>C	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 1139382	NM_000343.4(SLC5A1):c.207+19G>A	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2855323	NM_000343.4(SLC5A1):c.208-20A>C	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2741587	NM_000343.4(SLC5A1):c.208-16T>C	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 1991835	NM_000343.4(SLC5A1):c.208-13T>C	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 341237	NM_000343.4(SLC5A1):c.208-13T>A	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GConflicting classifications of pathogenicity
Select item 2727866	NM_000343.4(SLC5A1):c.208-9C>T	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 1566747	NM_000343.4(SLC5A1):c.208-8G>A	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 1623359	NM_000343.4(SLC5A1):c.216C>T (p.Ala72=)	SLC5A1	Single nucleotide variant (synonymous variant +1 more)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 1036439	NM_000343.4(SLC5A1):c.218C>T (p.Ser73Phe)	SLC5A1 (S73F)	Single nucleotide variant (missense variant +1 more)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 1325095	NM_000343.4(SLC5A1):c.226del (p.Ala76fs)	SLC5A1 (A76fs)	Deletion (frameshift variant +1 more)	Congenital glucose-galactose malabsorption	GLikely pathogenic
Select item 2163195	NM_000343.4(SLC5A1):c.231T>C (p.Ser77=)	SLC5A1	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 1898529	NM_000343.4(SLC5A1):c.246C>T (p.Gly82=)	SLC5A1	Single nucleotide variant (synonymous variant +1 more)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2994168	NM_000343.4(SLC5A1):c.264C>T (p.Ala88=)	SLC5A1	Single nucleotide variant (synonymous variant +1 more)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2152332	NM_000343.4(SLC5A1):c.265G>A (p.Gly89Arg)	SLC5A1 (G89R)	Single nucleotide variant (missense variant +1 more)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 1475183	NM_000343.4(SLC5A1):c.272G>C (p.Gly91Ala)	SLC5A1 (G91A)	Single nucleotide variant (missense variant +1 more)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2243758	NM_000343.4(SLC5A1):c.274G>A (p.Ala92Thr)	SLC5A1 (A92T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1715201	NM_000343.4(SLC5A1):c.277G>A (p.Ala93Thr)	SLC5A1 (A93T)	Single nucleotide variant (missense variant +1 more)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 1920413	NM_000343.4(SLC5A1):c.307T>G (p.Trp103Gly)	SLC5A1 (W103G)	Single nucleotide variant (missense variant +1 more)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 341238	NM_000343.4(SLC5A1):c.312+3G>A	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 1545790	NM_000343.4(SLC5A1):c.312+17C>A	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2149222	NM_000343.4(SLC5A1):c.312+18C>A	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2184464	NM_000343.4(SLC5A1):c.312+19A>G	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 1239985	NM_000343.4(SLC5A1):c.312+317_312+318insAT	SLC5A1	Insertion (intron variant)	not provided	GBenign
Select item 1249868	NM_000343.4(SLC5A1):c.312+329_312+330del	SLC5A1	Deletion (intron variant)	not provided	GBenign
Select item 1275942	NM_000343.4(SLC5A1):c.313-79G>A	SLC5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2745737	NM_000343.4(SLC5A1):c.323T>C (p.Leu108Ser)	SLC5A1 (L108S)	Single nucleotide variant (missense variant +1 more)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 1471321	NM_000343.4(SLC5A1):c.325G>T (p.Val109Leu)	SLC5A1 (V109L)	Single nucleotide variant (missense variant +1 more)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2152747	NM_000343.4(SLC5A1):c.330T>G (p.Val110=)	SLC5A1	Single nucleotide variant (synonymous variant +1 more)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 1666625	NM_000343.4(SLC5A1):c.334C>T (p.Leu112=)	SLC5A1	Single nucleotide variant (synonymous variant +1 more)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2757044	NM_000343.4(SLC5A1):c.336G>A (p.Leu112=)	SLC5A1	Single nucleotide variant (synonymous variant +1 more)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 1005454	NM_000343.4(SLC5A1):c.344T>G (p.Leu115Arg)	SLC5A1 (L115R)	Single nucleotide variant (missense variant +1 more)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2473903	NM_000343.4(SLC5A1):c.347T>A (p.Phe116Tyr)	SLC5A1 (F116Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2110179	NM_000343.4(SLC5A1):c.357C>T (p.Ile119=)	SLC5A1	Single nucleotide variant (synonymous variant +1 more)	Congenital glucose-galactose malabsorption	GLikely benign

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