387700[geneid] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152652	GRCh38/hg38 10q23.31(chr10:89095288-89633544)x3	CH25H, IFIT1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 1190162	NM_213606.4(SLC16A12):c.*185C>A	SLC16A12	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1269484	NM_213606.4(SLC16A12):c.*162T>A	SLC16A12	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2154033	NM_213606.4(SLC16A12):c.1542C>A (p.Ser514Arg)	SLC16A12 (S514R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3163068	NM_213606.4(SLC16A12):c.1519G>A (p.Ala507Thr)	SLC16A12 (A507T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394640	NM_213606.4(SLC16A12):c.1486A>G (p.Arg496Gly)	SLC16A12 (R496G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1968100	NM_213606.4(SLC16A12):c.1481T>G (p.Val494Gly)	SLC16A12 (V494G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799244	NM_213606.4(SLC16A12):c.1441A>C (p.Lys481Gln)	SLC16A12 (K481Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2292044	NM_213606.4(SLC16A12):c.1398G>A (p.Met466Ile)	SLC16A12 (M466I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280320	NM_213606.4(SLC16A12):c.1352T>C (p.Ile451Thr)	SLC16A12 (I451T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241742	NM_213606.4(SLC16A12):c.1318A>C (p.Thr440Pro)	SLC16A12 (T440P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355982	NM_213606.4(SLC16A12):c.1291C>T (p.Arg431Trp)	SLC16A12 (R431W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1251034	NM_213606.4(SLC16A12):c.1289-239A>G	SLC16A12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3060138	NM_213606.4(SLC16A12):c.1230G>A (p.Ala410=)	SLC16A12	Single nucleotide variant (synonymous variant)	SLC16A12-related condition	GLikely benign
Select item 2107056	NM_213606.4(SLC16A12):c.1219T>C (p.Leu407=)	SLC16A12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1652604	NM_213606.4(SLC16A12):c.1217C>G (p.Ser406Cys)	SLC16A12 (S406C)	Single nucleotide variant (missense variant)	SLC16A12-related condition +2 more	GBenign/Likely benign
Select item 2373599	NM_213606.4(SLC16A12):c.1129G>A (p.Val377Met)	SLC16A12 (V377M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1180132	NM_213606.4(SLC16A12):c.1029-126A>G	SLC16A12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278011	NM_213606.4(SLC16A12):c.1029-326A>C	SLC16A12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2178645	NM_213606.4(SLC16A12):c.1028+10A>G	SLC16A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 591603	NM_213606.4(SLC16A12):c.1022A>G (p.Asp341Gly)	SLC16A12 (D341G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2493591	NM_213606.4(SLC16A12):c.992T>C (p.Ile331Thr)	SLC16A12 (I331T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239784	NM_213606.4(SLC16A12):c.970A>C (p.Ile324Leu)	SLC16A12 (I324L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163074	NM_213606.4(SLC16A12):c.946C>G (p.Gln316Glu)	SLC16A12 (Q316E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244066	NM_213606.4(SLC16A12):c.944A>C (p.His315Pro)	SLC16A12 (H315P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 594240	NM_213606.4(SLC16A12):c.900_901del (p.Phe301fs)	SLC16A12 (F301fs)	Microsatellite (frameshift variant)	Juvenile cataract-microcornea-renal glucosuria syndrome +1 more	GUncertain significance
Select item 2405241	NM_213606.4(SLC16A12):c.893G>A (p.Ser298Asn)	SLC16A12 (S298N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025985	NM_213606.4(SLC16A12):c.862G>A (p.Val288Ile)	SLC16A12 (V288I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3054720	NM_213606.4(SLC16A12):c.837C>G (p.Leu279=)	SLC16A12	Single nucleotide variant (synonymous variant)	SLC16A12-related condition	GLikely benign
Select item 2314991	NM_213606.4(SLC16A12):c.826A>G (p.Ser276Gly)	SLC16A12 (S276G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1310460	NM_213606.4(SLC16A12):c.758C>T (p.Ser253Phe)	SLC16A12 (S253F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2602797	NM_213606.4(SLC16A12):c.751C>T (p.Arg251Trp)	SLC16A12 (R251W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470014	NM_213606.4(SLC16A12):c.746T>C (p.Ile249Thr)	SLC16A12 (I249T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784	NM_213606.4(SLC16A12):c.733C>T (p.Gln245Ter)	SLC16A12 (Q245*)	Single nucleotide variant (nonsense)	Juvenile cataract-microcornea-renal glucosuria syndrome	GPathogenic
Select item 2760404	NM_213606.4(SLC16A12):c.718C>T (p.His240Tyr)	SLC16A12 (H240Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 562311	NM_213606.4(SLC16A12):c.662del (p.Gly221fs)	SLC16A12 (G221fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3163073	NM_213606.4(SLC16A12):c.652T>A (p.Cys218Ser)	SLC16A12 (C218S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250645	NM_213606.4(SLC16A12):c.620T>C (p.Leu207Ser)	SLC16A12 (L207S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 217336	NM_213606.4(SLC16A12):c.610C>T (p.Arg204Trp)	SLC16A12 (R204W)	Single nucleotide variant (missense variant)	Juvenile cataract-microcornea-renal glucosuria syndrome	GUncertain significance
Select item 1049611	NM_213606.4(SLC16A12):c.609G>T (p.Trp203Cys)	SLC16A12 (W203C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3040917	NM_213606.4(SLC16A12):c.534C>T (p.Ile178=)	SLC16A12	Single nucleotide variant (synonymous variant)	SLC16A12-related condition	GLikely benign
Select item 2416274	NM_213606.4(SLC16A12):c.512G>A (p.Arg171Gln)	SLC16A12 (R171Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3163072	NM_213606.4(SLC16A12):c.478G>C (p.Ala160Pro)	SLC16A12 (A160P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 68476	NM_213606.4(SLC16A12):c.472T>C (p.Ser158Pro)	SLC16A12 (S158P)	Single nucleotide variant (missense variant)	Juvenile cataract-microcornea-renal glucosuria syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3163071	NM_213606.4(SLC16A12):c.454G>A (p.Gly152Arg)	SLC16A12 (G152R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1599777	NM_213606.4(SLC16A12):c.449-6C>T	SLC16A12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233413	NM_213606.4(SLC16A12):c.448+154G>A	SLC16A12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304566	NM_213606.4(SLC16A12):c.407C>T (p.Thr136Met)	SLC16A12 (T136M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 191007	NM_213606.4(SLC16A12):c.404C>T (p.Ala135Val)	SLC16A12 (A135V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 931641	NM_213606.4(SLC16A12):c.305-9T>C	SLC16A12	Single nucleotide variant (intron variant)	Juvenile cataract-microcornea-renal glucosuria syndrome	GUncertain significance
Select item 1282329	NM_213606.4(SLC16A12):c.305-98A>C	SLC16A12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259227	NM_213606.4(SLC16A12):c.305-261A>C	SLC16A12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274623	NM_213606.4(SLC16A12):c.304+299C>T	SLC16A12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1325937	NM_213606.4(SLC16A12):c.304+35C>A	SLC16A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3163070	NM_213606.4(SLC16A12):c.261G>A (p.Thr87=)	SLC16A12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2349363	NM_213606.4(SLC16A12):c.260C>T (p.Thr87Met)	SLC16A12 (T87M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455023	NM_213606.4(SLC16A12):c.253G>A (p.Ala85Thr)	SLC16A12 (A85T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040349	NM_213606.4(SLC16A12):c.252C>T (p.Tyr84=)	SLC16A12	Single nucleotide variant (synonymous variant)	SLC16A12-related condition	GLikely benign
Select item 2716293	NM_213606.4(SLC16A12):c.201-9A>G	SLC16A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1543945	NM_213606.4(SLC16A12):c.201-16G>A	SLC16A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240617	NM_213606.4(SLC16A12):c.201-276C>A	SLC16A12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2060390	NM_213606.4(SLC16A12):c.200+9del	SLC16A12, SLC16A12-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 3037067	NM_213606.4(SLC16A12):c.180C>A (p.Ile60=)	SLC16A12-AS1, SLC16A12	Single nucleotide variant (synonymous variant)	SLC16A12-related condition	GLikely benign
Select item 3163069	NM_213606.4(SLC16A12):c.159T>C (p.Ala53=)	SLC16A12, SLC16A12-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 591357	NM_213606.4(SLC16A12):c.145T>G (p.Trp49Gly)	SLC16A12, SLC16A12-AS1 (W49G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304679	NM_213606.4(SLC16A12):c.122C>A (p.Ser41Tyr)	SLC16A12, SLC16A12-AS1 (S41Y)	Single nucleotide variant (missense variant)	Juvenile cataract-microcornea-renal glucosuria syndrome +1 more	GUncertain significance
Select item 1313505	NM_213606.4(SLC16A12):c.113G>A (p.Arg38Gln)	SLC16A12, SLC16A12-AS1 (R38Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2395125	NM_213606.4(SLC16A12):c.100G>A (p.Val34Ile)	SLC16A12, SLC16A12-AS1 (V34I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2070348	NM_213606.4(SLC16A12):c.97A>G (p.Lys33Glu)	SLC16A12, SLC16A12-AS1 (K33E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 681342	NM_213606.4(SLC16A12):c.49T>G (p.Trp17Gly)	SLC16A12, SLC16A12-AS1 (W17G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2289876	NM_213606.4(SLC16A12):c.40A>G (p.Ile14Val)	SLC16A12, SLC16A12-AS1 (I14V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 155244	GRCh38/hg38 10q23.31(chr10:89535104-89540489)x3	SLC16A12	Copy number gain	See cases	GLikely benign
Select item 3063146	GRCh37/hg19 10q23.31-23.32(chr10:89950990-92959893)x3	ACTA2, ANKRD1 +24 more	Copy number gain	not specified	GUncertain significance
Select item 3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	ACTA2, ADIRF +46 more	Copy number loss	not specified	GPathogenic
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 3063129	GRCh37/hg19 10q23.31(chr10:90948076-91395072)x3	CH25H, IFIT1 +8 more	Copy number gain	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2422619	NC_000010.10:g.(?_90974585)_(91222335_?)dup	IFIT1, IFIT1B +5 more	Duplication	Wolman disease	GUncertain significance
Select item 1808949	GRCh37/hg19 10q23.31(chr10:90874051-91291188)x3	CH25H, IFIT1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1807839	GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1	ACTA2, ANKRD1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1807623	GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1	ACTA2, ADIRF +56 more	Copy number loss	not provided	GPathogenic
Select item 1708188	GRCh37/hg19 10q23.1-23.31(chr10:83533660-91913077)x1	ACTA2, ADIRF +50 more	Copy number loss	See cases	GPathogenic
Select item 979281	GRCh37/hg19 10q23.2-23.31(chr10:88685387-92144296)x1	ACTA2, ADIRF +34 more	Copy number loss	not provided	GPathogenic
Select item 831108	NC_000010.11:g.(?_89338661)_(89612048_?)del	IFIT1, IFIT1B +5 more	Deletion	not provided	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 563795	GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1	ACTA2, ADIRF +55 more	Copy number loss	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response

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Items: 93