ClinVar for Gene (Select 221785) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 132

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3199408	NM_145115.3(ZSCAN25):c.919G>A (p.Gly307Arg)	ZSCAN25 (G307R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3199407	NM_145115.3(ZSCAN25):c.764T>C (p.Phe255Ser)	ZSCAN25 (F255S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199405	NM_145115.3(ZSCAN25):c.632A>G (p.Asn211Ser)	ZSCAN25 (N211S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199404	NM_145115.3(ZSCAN25):c.544C>T (p.Leu182Phe)	ZSCAN25 (L182F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199403	NM_145115.3(ZSCAN25):c.52A>G (p.Ile18Val)	ZSCAN25 (I18V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3199402	NM_145115.3(ZSCAN25):c.50G>A (p.Gly17Asp)	ZSCAN25 (G17D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199401	NM_145115.3(ZSCAN25):c.146G>A (p.Arg49His)	ZSCAN25 (R49H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199400	NM_145115.3(ZSCAN25):c.1441A>G (p.Thr481Ala)	ZSCAN25 (T317A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3199399	NM_145115.3(ZSCAN25):c.1355C>T (p.Thr452Met)	ZSCAN25 (T288M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3199398	NM_145115.3(ZSCAN25):c.10G>A (p.Glu4Lys)	ZSCAN25 (E4K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079637	NM_000765.5(CYP3A7):c.859C>T (p.His287Tyr)	CYP3A7, CYP3A7-CYP3A51P +1 more (H287Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079636	NM_000765.5(CYP3A7):c.754T>A (p.Ser252Thr)	CYP3A7, CYP3A7-CYP3A51P +1 more (S252T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079635	NM_000765.5(CYP3A7):c.653C>A (p.Pro218Gln)	CYP3A7, CYP3A7-CYP3A51P +1 more (P218Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079634	NM_000765.5(CYP3A7):c.367G>A (p.Asp123Asn)	CYP3A7, CYP3A7-CYP3A51P +1 more (D123N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079633	NM_000765.5(CYP3A7):c.153G>T (p.Leu51Phe)	CYP3A7, CYP3A7-CYP3A51P +1 more (L51F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079632	NM_000765.5(CYP3A7):c.1432C>T (p.Arg478Cys)	CYP3A7, CYP3A7-CYP3A51P +1 more (R478C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079631	NM_000765.5(CYP3A7):c.1328T>C (p.Ile443Thr)	CYP3A7, CYP3A7-CYP3A51P +1 more (I443T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079630	NM_000777.5(CYP3A5):c.454T>C (p.Tyr152His)	CYP3A5, ZSCAN25 (Y142H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079629	NM_000777.5(CYP3A5):c.1433C>T (p.Thr478Met)	CYP3A5, ZSCAN25 (T365M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079628	NM_000777.5(CYP3A5):c.1331T>C (p.Met444Thr)	CYP3A5, ZSCAN25 (M331T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079627	NM_000777.5(CYP3A5):c.1243C>T (p.Arg415Cys)	CYP3A5, ZSCAN25 (R415C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079626	NM_000777.5(CYP3A5):c.1040A>G (p.Tyr347Cys)	CYP3A5, ZSCAN25 (Y337C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 3055839	NM_000777.5(CYP3A5):c.-74C>T	CYP3A5, LOC110599592 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	CYP3A5-related disorder	GLikely benign
Select item 3051135	NM_000777.5(CYP3A5):c.692_693del (p.Pro231fs)	CYP3A5, ZSCAN25 (P118fs +2 more)	Deletion (frameshift variant +2 more)	CYP3A5-related disorder	GLikely benign
Select item 3047630	NM_000777.5(CYP3A5):c.799-127G>A	CYP3A5, ZSCAN25	Single nucleotide variant (non-coding transcript variant +1 more)	CYP3A5-related disorder	GLikely benign
Select item 3044339	NM_000777.5(CYP3A5):c.72-111C>T	CYP3A5, ZSCAN25	Single nucleotide variant (5 prime UTR variant +3 more)	CYP3A5-related disorder	GBenign
Select item 3041648	NM_000777.5(CYP3A5):c.-86G>A	CYP3A5, LOC110599592 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	CYP3A5-related disorder	GLikely benign
Select item 3040536	NM_000777.5(CYP3A5):c.1191A>C (p.Pro397=)	CYP3A5, ZSCAN25	Single nucleotide variant (synonymous variant +2 more)	CYP3A5-related disorder	GLikely benign
Select item 3039123	NM_000777.5(CYP3A5):c.624G>A (p.Lys208=)	CYP3A5, ZSCAN25	Single nucleotide variant (synonymous variant +2 more)	CYP3A5-related disorder	GLikely benign
Select item 3038280	NM_000777.5(CYP3A5):c.1035dup (p.Thr346fs)	CYP3A5, ZSCAN25 (T233fs +2 more)	Duplication (frameshift variant +2 more)	CYP3A5-related disorder	GLikely benign
Select item 3034635	NM_000777.5(CYP3A5):c.72-152T>C	CYP3A5, ZSCAN25	Single nucleotide variant (5 prime UTR variant +2 more)	CYP3A5-related disorder	GLikely benign
Select item 3034613	NM_000777.5(CYP3A5):c.299C>A (p.Ser100Tyr)	CYP3A5, ZSCAN25 (S100Y +1 more)	Single nucleotide variant (missense variant +2 more)	CYP3A5-related disorder	GLikely benign
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2657725	NM_000777.5(CYP3A5):c.88C>T (p.His30Tyr)	CYP3A5, ZSCAN25 (H20Y +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2657724	NM_000777.5(CYP3A5):c.92dup (p.Leu32fs)	CYP3A5, ZSCAN25 (L22fs +1 more)	Duplication (frameshift variant +2 more)	CYP3A5-related disorder +1 more	GLikely benign
Select item 2634597	NM_000777.5(CYP3A5):c.219-235A>G	CYP3A5, ZSCAN25	Single nucleotide variant (5 prime UTR variant +2 more)	CYP3A5-related disorder	GUncertain significance
Select item 2607353	NM_000777.5(CYP3A5):c.1006G>T (p.Asp336Tyr)	CYP3A5, ZSCAN25 (D336Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +229 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 2552143	NM_145115.3(ZSCAN25):c.1622C>A (p.Pro541Gln)	ZSCAN25 (P541Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2549139	NM_145115.3(ZSCAN25):c.1210G>A (p.Val404Met)	ZSCAN25 (V404M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2528723	NM_000765.5(CYP3A7):c.931A>G (p.Ser311Gly)	CYP3A7, CYP3A7-CYP3A51P +1 more (S311G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528212	NM_145115.3(ZSCAN25):c.1079G>A (p.Ser360Asn)	ZSCAN25 (S360N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2523971	NM_000777.5(CYP3A5):c.23C>T (p.Ala8Val)	CYP3A5, ZSCAN25 (A8V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2517010	NM_000765.5(CYP3A7):c.1154G>A (p.Gly385Glu)	CYP3A7, CYP3A7-CYP3A51P +1 more (G385E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515468	NM_000777.5(CYP3A5):c.1174T>C (p.Ser392Pro)	CYP3A5, ZSCAN25 (S392P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2512358	NM_145115.3(ZSCAN25):c.503G>C (p.Gly168Ala)	ZSCAN25 (G168A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509235	NM_145115.3(ZSCAN25):c.608C>T (p.Ala203Val)	ZSCAN25 (A203V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493300	NM_000777.5(CYP3A5):c.765A>T (p.Arg255Ser)	CYP3A5, ZSCAN25 (R142S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2491091	NM_145115.3(ZSCAN25):c.878C>T (p.Ser293Leu)	ZSCAN25 (S129L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2489200	NM_000777.5(CYP3A5):c.895T>G (p.Ser299Ala)	CYP3A5, ZSCAN25 (S299A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2486392	NM_000777.5(CYP3A5):c.1031C>A (p.Pro344Gln)	CYP3A5, ZSCAN25 (P231Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2479963	NM_000765.5(CYP3A7):c.1074G>A (p.Met358Ile)	CYP3A7, CYP3A7-CYP3A51P +1 more (M358I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479577	NM_000777.5(CYP3A5):c.138G>T (p.Leu46Phe)	CYP3A5, ZSCAN25 (L46F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2477442	NM_145115.3(ZSCAN25):c.865G>C (p.Val289Leu)	ZSCAN25 (V125L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2464645	NM_000765.5(CYP3A7):c.484C>T (p.Arg162Trp)	CYP3A7, CYP3A7-CYP3A51P +1 more (R162W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459159	NM_145115.3(ZSCAN25):c.1067G>C (p.Gly356Ala)	ZSCAN25 (G356A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2456214	NM_145115.3(ZSCAN25):c.1349G>A (p.Arg450Gln)	ZSCAN25 (R450Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2456027	NM_145115.3(ZSCAN25):c.1051C>T (p.Pro351Ser)	ZSCAN25 (P187S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	TRAPPC14, TRIM4 +79 more	Duplication	not provided	GUncertain significance
Select item 2406831	NM_145115.3(ZSCAN25):c.206G>A (p.Arg69Gln)	ZSCAN25 (R69Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2404072	NM_145115.3(ZSCAN25):c.940C>G (p.Pro314Ala)	ZSCAN25 (P150A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2403288	NM_000777.5(CYP3A5):c.505C>T (p.Pro169Ser)	CYP3A5, ZSCAN25 (P159S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2402955	NM_000765.5(CYP3A7):c.857C>A (p.Thr286Asn)	CYP3A7, CYP3A7-CYP3A51P +1 more (T286N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401268	NM_000765.5(CYP3A7):c.658G>A (p.Val220Ile)	CYP3A7, CYP3A7-CYP3A51P +1 more (V220I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388763	NM_145115.3(ZSCAN25):c.424G>A (p.Ala142Thr)	ZSCAN25 (A142T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384713	NM_145115.3(ZSCAN25):c.826G>A (p.Glu276Lys)	ZSCAN25 (E112K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2383490	NM_000765.5(CYP3A7):c.575G>A (p.Ser192Asn)	CYP3A7, CYP3A7-CYP3A51P +1 more (S192N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2374975	NM_000765.5(CYP3A7):c.736A>G (p.Ile246Val)	CYP3A7, CYP3A7-CYP3A51P +1 more (I246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374974	NM_000765.5(CYP3A7):c.607T>C (p.Phe203Leu)	CYP3A7, CYP3A7-CYP3A51P +1 more (F203L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372750	NM_000765.5(CYP3A7):c.1057T>A (p.Leu353Met)	CYP3A7, CYP3A7-CYP3A51P +1 more (L353M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2372183	NM_000765.5(CYP3A7):c.1278C>G (p.Asn426Lys)	CYP3A7, CYP3A7-CYP3A51P +1 more (N426K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365745	NM_000765.5(CYP3A7):c.869T>G (p.Leu290Arg)	CYP3A7, CYP3A7-CYP3A51P +1 more (L290R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358100	NM_000765.5(CYP3A7):c.94C>G (p.Leu32Val)	CYP3A7, CYP3A7-CYP3A51P +1 more (L32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354732	NM_145115.3(ZSCAN25):c.595C>T (p.Pro199Ser)	ZSCAN25 (P35S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353188	NM_000765.5(CYP3A7):c.35G>T (p.Trp12Leu)	CYP3A7, CYP3A7-CYP3A51P +1 more (W12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344251	NM_145115.3(ZSCAN25):c.314A>G (p.His105Arg)	ZSCAN25 (H105R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335067	NM_000765.5(CYP3A7):c.1313G>A (p.Gly438Glu)	CYP3A7, CYP3A7-CYP3A51P +1 more (G438E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334411	NM_000765.5(CYP3A7):c.697C>T (p.Leu233Phe)	CYP3A7, CYP3A7-CYP3A51P +1 more (L233F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2319949	NM_000777.5(CYP3A5):c.157T>C (p.Tyr53His)	CYP3A5, ZSCAN25 (Y53H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2319916	NM_145115.3(ZSCAN25):c.286C>T (p.Arg96Cys)	ZSCAN25 (R96C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319780	NM_145115.3(ZSCAN25):c.16C>T (p.Pro6Ser)	ZSCAN25 (P6S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316890	NM_000765.5(CYP3A7):c.944C>T (p.Ser315Phe)	CYP3A7, CYP3A7-CYP3A51P +1 more (S315F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309741	NM_145115.3(ZSCAN25):c.1000C>G (p.Leu334Val)	ZSCAN25 (L170V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2309343	NM_000777.5(CYP3A5):c.1397C>A (p.Pro466His)	CYP3A5, ZSCAN25 (P466H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2307560	NM_000777.5(CYP3A5):c.575A>G (p.Asn192Ser)	CYP3A5, ZSCAN25 (N192S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2287517	NM_145115.3(ZSCAN25):c.830C>T (p.Ala277Val)	ZSCAN25 (A113V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2285805	NM_145115.3(ZSCAN25):c.446A>T (p.Glu149Val)	ZSCAN25 (E149V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278242	NM_000777.5(CYP3A5):c.359T>C (p.Leu120Ser)	CYP3A5, ZSCAN25 (L110S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2275626	NM_000765.5(CYP3A7):c.1325G>T (p.Cys442Phe)	CYP3A7, CYP3A7-CYP3A51P +1 more (C442F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267006	NM_145115.3(ZSCAN25):c.671C>T (p.Ala224Val)	ZSCAN25 (A60V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266441	NM_000765.5(CYP3A7):c.334G>A (p.Gly112Arg)	CYP3A7, CYP3A7-CYP3A51P +1 more (G112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260324	NM_145115.3(ZSCAN25):c.22A>G (p.Met8Val)	ZSCAN25 (M8V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252621	NM_000777.5(CYP3A5):c.1142T>C (p.Val381Ala)	CYP3A5, ZSCAN25 (V371A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2248729	NM_000765.5(CYP3A7):c.1364C>A (p.Ala455Asp)	CYP3A7, CYP3A7-CYP3A51P +1 more (A455D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243323	NM_000777.5(CYP3A5):c.277G>T (p.Val93Leu)	CYP3A5, ZSCAN25 (V93L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2233783	NM_000777.5(CYP3A5):c.779G>A (p.Arg260His)	CYP3A5, ZSCAN25 (R260H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2229837	NM_145115.3(ZSCAN25):c.1335C>A (p.His445Gln)	ZSCAN25 (H281Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2224675	NM_000777.5(CYP3A5):c.926C>A (p.Thr309Asn)	CYP3A5, ZSCAN25 (T196N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2218514	NM_145115.3(ZSCAN25):c.890G>C (p.Gly297Ala)	ZSCAN25 (G133A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

<< First< Prev

Page of 2