25436[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 149679	GRCh38/hg38 12q24.32(chr12:127145342-128422497)x4	LINC00507, LINC00508 +22 more	Copy number gain	See cases	GUncertain significance
Select item 147530	GRCh38/hg38 12q24.32(chr12:127802658-128663624)x3	LINC00507, LINC00508 +13 more	Copy number gain	See cases	GUncertain significance
Select item 147998	GRCh38/hg38 12q24.32-24.33(chr12:127900499-129778294)x3	GLT1D1, LINC00507 +43 more	Copy number gain	See cases	GUncertain significance
Select item 3178705	NM_001136103.3(TMEM132C):c.14G>A (p.Gly5Asp)	TMEM132C (G5D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387964	NM_001136103.3(TMEM132C):c.100G>A (p.Gly34Arg)	TMEM132C (G14R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335616	NM_001136103.3(TMEM132C):c.117A>G (p.Ile39Met)	TMEM132C (I19M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279325	NM_001136103.3(TMEM132C):c.128C>T (p.Ser43Phe)	TMEM132C (S43F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464905	NM_001136103.3(TMEM132C):c.139C>A (p.Pro47Thr)	TMEM132C (P27T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178709	NM_001136103.3(TMEM132C):c.177G>T (p.Glu59Asp)	TMEM132C (E59D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520511	NM_001136103.3(TMEM132C):c.217C>T (p.Arg73Trp)	TMEM132C (R53W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178721	NM_001136103.3(TMEM132C):c.287A>G (p.Asn96Ser)	TMEM132C (N76S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379842	NM_001136103.3(TMEM132C):c.338T>G (p.Met113Arg)	TMEM132C (M93R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594657	NM_001136103.3(TMEM132C):c.342G>T (p.Leu114Phe)	TMEM132C (L114F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178729	NM_001136103.3(TMEM132C):c.368A>G (p.Asn123Ser)	TMEM132C (N123S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2569698	NM_001136103.3(TMEM132C):c.410G>A (p.Arg137Gln)	TMEM132C (R117Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347997	NM_001136103.3(TMEM132C):c.430C>T (p.Arg144Trp)	TMEM132C (R124W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493279	NM_001136103.3(TMEM132C):c.457A>G (p.Ile153Val)	TMEM132C (I153V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2385462	NM_001136103.3(TMEM132C):c.556C>T (p.Arg186Trp)	TMEM132C (R186W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178730	NM_001136103.3(TMEM132C):c.626C>T (p.Thr209Met)	TMEM132C (T189M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178731	NM_001136103.3(TMEM132C):c.636C>T (p.Ala212=)	TMEM132C	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2367465	NM_001136103.3(TMEM132C):c.654G>C (p.Met218Ile)	TMEM132C (M198I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238947	NM_001136103.3(TMEM132C):c.661C>G (p.Pro221Ala)	TMEM132C (P221A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210595	NM_001136103.3(TMEM132C):c.662C>T (p.Pro221Leu)	TMEM132C (P201L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776778	NM_001136103.3(TMEM132C):c.694G>A (p.Val232Met)	TMEM132C (V232M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2272549	NM_001136103.3(TMEM132C):c.751G>A (p.Ala251Thr)	TMEM132C (A231T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362049	NM_001136103.3(TMEM132C):c.800A>G (p.Gln267Arg)	TMEM132C (Q267R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643585	NM_001136103.3(TMEM132C):c.807C>T (p.Ile269=)	TMEM132C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3178732	NM_001136103.3(TMEM132C):c.841G>A (p.Ala281Thr)	TMEM132C (A281T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178733	NM_001136103.3(TMEM132C):c.859C>T (p.Arg287Cys)	TMEM132C (R287C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263348	NM_001136103.3(TMEM132C):c.898C>A (p.Pro300Thr)	TMEM132C (P300T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238896	NM_001136103.3(TMEM132C):c.898C>T (p.Pro300Ser)	TMEM132C (P280S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552246	NM_001136103.3(TMEM132C):c.959A>G (p.Asp320Gly)	TMEM132C (D300G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151149	GRCh38/hg38 12q24.32-24.33(chr12:128487318-129325819)x3	GLT1D1, LOC100128276 +30 more	Copy number gain	See cases	GUncertain significance
Select item 150016	GRCh38/hg38 12q24.32-24.33(chr12:128510404-129187569)x4	GLT1D1, LOC100128276 +28 more	Copy number gain	See cases	GUncertain significance
Select item 2457457	NM_001136103.3(TMEM132C):c.991G>T (p.Gly331Trp)	TMEM132C (G331W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522441	NM_001136103.3(TMEM132C):c.999C>G (p.Asn333Lys)	TMEM132C (N313K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594185	NM_001136103.3(TMEM132C):c.1019G>A (p.Arg340His)	TMEM132C (R340H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178701	NM_001136103.3(TMEM132C):c.1027C>T (p.Arg343Trp)	TMEM132C (R343W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178702	NM_001136103.3(TMEM132C):c.1039G>A (p.Val347Ile)	TMEM132C (V347I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409189	NM_001136103.3(TMEM132C):c.1060G>A (p.Gly354Ser)	TMEM132C (G334S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255653	NM_001136103.3(TMEM132C):c.1063G>A (p.Gly355Arg)	TMEM132C (G355R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288505	NM_001136103.3(TMEM132C):c.1087G>A (p.Ala363Thr)	TMEM132C (A343T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178703	NM_001136103.3(TMEM132C):c.1147G>C (p.Val383Leu)	TMEM132C (V383L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248293	NM_001136103.3(TMEM132C):c.1166T>C (p.Ile389Thr)	TMEM132C (I369T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324941	NM_001136103.3(TMEM132C):c.1226G>A (p.Arg409Gln)	TMEM132C (R389Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515828	NM_001136103.3(TMEM132C):c.1247C>T (p.Ala416Val)	TMEM132C (A396V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242973	NM_001136103.3(TMEM132C):c.1309A>G (p.Thr437Ala)	TMEM132C (T437A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381102	NM_001136103.3(TMEM132C):c.1414G>A (p.Val472Met)	TMEM132C (V452M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643586	NM_001136103.3(TMEM132C):c.1511C>T (p.Ala504Val)	TMEM132C (A484V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3178706	NM_001136103.3(TMEM132C):c.1526C>T (p.Thr509Ile)	TMEM132C (T509I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463107	NM_001136103.3(TMEM132C):c.1561G>A (p.Val521Met)	TMEM132C (V501M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511865	NM_001136103.3(TMEM132C):c.1574G>A (p.Arg525Gln)	TMEM132C (R525Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246319	NM_001136103.3(TMEM132C):c.1705G>A (p.Gly569Ser)	TMEM132C (G569S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235085	NM_001136103.3(TMEM132C):c.1741G>A (p.Val581Ile)	TMEM132C (V561I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178708	NM_001136103.3(TMEM132C):c.1768G>A (p.Ala590Thr)	TMEM132C (A570T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379828	NM_001136103.3(TMEM132C):c.1771G>A (p.Gly591Ser)	TMEM132C (G591S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362641	NM_001136103.3(TMEM132C):c.1771G>C (p.Gly591Arg)	TMEM132C (G591R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178710	NM_001136103.3(TMEM132C):c.1787C>T (p.Pro596Leu)	TMEM132C (P576L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2460097	NM_001136103.3(TMEM132C):c.1889G>A (p.Arg630Gln)	TMEM132C (R610Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384108	NM_001136103.3(TMEM132C):c.1978G>A (p.Val660Met)	TMEM132C (V640M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3178711	NM_001136103.3(TMEM132C):c.2010G>T (p.Leu670Phe)	TMEM132C (L670F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249278	NM_001136103.3(TMEM132C):c.2051C>A (p.Pro684His)	TMEM132C (P664H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382424	NM_001136103.3(TMEM132C):c.2072C>T (p.Ala691Val)	TMEM132C (A671V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212601	NM_001136103.3(TMEM132C):c.2107C>T (p.Arg703Trp)	TMEM132C (R683W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293246	NM_001136103.3(TMEM132C):c.2162C>G (p.Ser721Cys)	TMEM132C (S701C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619423	NM_001136103.3(TMEM132C):c.2251C>T (p.Arg751Cys)	TMEM132C (R751C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257293	NM_001136103.3(TMEM132C):c.2263T>C (p.Trp755Arg)	TMEM132C (W735R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178713	NM_001136103.3(TMEM132C):c.2269G>A (p.Val757Ile)	TMEM132C (V757I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303106	NM_001136103.3(TMEM132C):c.2308C>G (p.Arg770Gly)	TMEM132C (R750G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315604	NM_001136103.3(TMEM132C):c.2348A>G (p.Lys783Arg)	TMEM132C (K763R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178714	NM_001136103.3(TMEM132C):c.2374G>A (p.Val792Ile)	TMEM132C (V772I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3178715	NM_001136103.3(TMEM132C):c.2425G>A (p.Gly809Ser)	TMEM132C (G789S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178716	NM_001136103.3(TMEM132C):c.2473C>T (p.Arg825Trp)	TMEM132C (R825W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178717	NM_001136103.3(TMEM132C):c.2536G>A (p.Val846Met)	TMEM132C (V826M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361757	NM_001136103.3(TMEM132C):c.2542C>T (p.Arg848Cys)	TMEM132C (R848C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244999	NM_001136103.3(TMEM132C):c.2548G>C (p.Glu850Gln)	TMEM132C (E850Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178718	NM_001136103.3(TMEM132C):c.2669T>C (p.Ile890Thr)	TMEM132C (I890T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178719	NM_001136103.3(TMEM132C):c.2672A>T (p.Asp891Val)	TMEM132C (D871V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225719	NM_001136103.3(TMEM132C):c.2713G>A (p.Gly905Arg)	TMEM132C (G905R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409155	NM_001136103.3(TMEM132C):c.2736C>A (p.Asp912Glu)	TMEM132C (D892E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178720	NM_001136103.3(TMEM132C):c.2750C>T (p.Pro917Leu)	TMEM132C (P897L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267000	NM_001136103.3(TMEM132C):c.2908G>A (p.Asp970Asn)	TMEM132C (D950N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317849	NM_001136103.3(TMEM132C):c.2913G>T (p.Trp971Cys)	TMEM132C (W951C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314248	NM_001136103.3(TMEM132C):c.2960C>T (p.Ala987Val)	TMEM132C (A967V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209438	NM_001136103.3(TMEM132C):c.2963C>T (p.Pro988Leu)	TMEM132C (P988L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460475	NM_001136103.3(TMEM132C):c.2999G>A (p.Arg1000His)	TMEM132C (R1000H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511699	NM_001136103.3(TMEM132C):c.3001G>A (p.Gly1001Arg)	TMEM132C (G981R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604754	NM_001136103.3(TMEM132C):c.3002G>T (p.Gly1001Val)	TMEM132C (G1001V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473682	NM_001136103.3(TMEM132C):c.3010G>A (p.Ala1004Thr)	TMEM132C (A1004T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398529	NM_001136103.3(TMEM132C):c.3016G>A (p.Glu1006Lys)	TMEM132C (E1006K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178722	NM_001136103.3(TMEM132C):c.3106G>A (p.Gly1036Ser)	TMEM132C (G1036S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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