ClinVar for Gene (Select 23240) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326743	NM_001131007.2(TMEM131L):c.2015C>A (p.Ser672Tyr)	TMEM131L (S672Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326742	NM_001131007.2(TMEM131L):c.817T>G (p.Phe273Val)	TMEM131L (F273V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326741	NM_001131007.2(TMEM131L):c.3798G>T (p.Arg1266Ser)	TMEM131L (R1265S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326740	NM_001131007.2(TMEM131L):c.1175C>T (p.Ser392Phe)	TMEM131L (S392F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326739	NM_001131007.2(TMEM131L):c.1631A>T (p.Tyr544Phe)	TMEM131L (Y544F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326738	NM_001131007.2(TMEM131L):c.2840G>C (p.Arg947Thr)	TMEM131L (R946T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326737	NM_001131007.2(TMEM131L):c.3839C>G (p.Pro1280Arg)	TMEM131L (P1279R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326735	NM_001131007.2(TMEM131L):c.715A>G (p.Asn239Asp)	TMEM131L (N239D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326734	NM_001131007.2(TMEM131L):c.139C>T (p.Pro47Ser)	TMEM131L (P47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326733	NM_001131007.2(TMEM131L):c.3562G>A (p.Val1188Ile)	TMEM131L (V1187I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326732	NM_001131007.2(TMEM131L):c.1117C>G (p.Pro373Ala)	TMEM131L (P373A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326731	NM_001131007.2(TMEM131L):c.2230A>G (p.Lys744Glu)	TMEM131L (K743E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178666	NM_001131007.2(TMEM131L):c.8G>T (p.Gly3Val)	TMEM131L (G3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178665	NM_001131007.2(TMEM131L):c.88C>G (p.Leu30Val)	TMEM131L (L30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178664	NM_001131007.2(TMEM131L):c.872C>T (p.Thr291Ile)	TMEM131L (T291I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178663	NM_001131007.2(TMEM131L):c.696A>C (p.Gln232His)	TMEM131L (Q232H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178662	NM_001131007.2(TMEM131L):c.620T>C (p.Leu207Pro)	TMEM131L (L207P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178661	NM_001131007.2(TMEM131L):c.4741G>A (p.Ala1581Thr)	TMEM131L (A1580T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178660	NM_001131007.2(TMEM131L):c.4667C>T (p.Thr1556Met)	TMEM131L (T1556M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178659	NM_001131007.2(TMEM131L):c.4553C>G (p.Ser1518Cys)	TMEM131L (S1518C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178658	NM_001131007.2(TMEM131L):c.4502A>G (p.Asn1501Ser)	TMEM131L (N1501S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3178657	NM_001131007.2(TMEM131L):c.44C>G (p.Thr15Ser)	TMEM131L (T15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178656	NM_001131007.2(TMEM131L):c.4493C>T (p.Ser1498Phe)	TMEM131L (S1497F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178655	NM_001131007.2(TMEM131L):c.4487C>G (p.Ser1496Cys)	TMEM131L (S1495C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178654	NM_001131007.2(TMEM131L):c.4385T>C (p.Leu1462Ser)	TMEM131L (L1461S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178653	NM_001131007.2(TMEM131L):c.4316C>T (p.Pro1439Leu)	TMEM131L (P1439L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178651	NM_001131007.2(TMEM131L):c.416C>T (p.Pro139Leu)	TMEM131L (P139L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178650	NM_001131007.2(TMEM131L):c.4160C>A (p.Ser1387Tyr)	TMEM131L (S1386Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178649	NM_001131007.2(TMEM131L):c.4000G>A (p.Gly1334Arg)	TMEM131L (G1333R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178648	NM_001131007.2(TMEM131L):c.3997G>A (p.Asp1333Asn)	TMEM131L (D1333N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178647	NM_001131007.2(TMEM131L):c.3950G>A (p.Arg1317His)	TMEM131L (R1317H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178646	NM_001131007.2(TMEM131L):c.3949C>T (p.Arg1317Cys)	TMEM131L (R1316C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178645	NM_001131007.2(TMEM131L):c.3946G>A (p.Val1316Met)	TMEM131L (V1315M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178643	NM_001131007.2(TMEM131L):c.3940G>A (p.Gly1314Ser)	TMEM131L (G1314S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178642	NM_001131007.2(TMEM131L):c.3926G>A (p.Cys1309Tyr)	TMEM131L (C1308Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178641	NM_001131007.2(TMEM131L):c.3892G>A (p.Val1298Met)	TMEM131L (V1297M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178640	NM_001131007.2(TMEM131L):c.3761T>G (p.Ile1254Ser)	TMEM131L (I1253S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178639	NM_001131007.2(TMEM131L):c.3737A>G (p.Glu1246Gly)	TMEM131L (E1245G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178638	NM_001131007.2(TMEM131L):c.3668A>G (p.Lys1223Arg)	TMEM131L (K1223R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178637	NM_001131007.2(TMEM131L):c.3640A>G (p.Lys1214Glu)	TMEM131L (K1213E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178635	NM_001131007.2(TMEM131L):c.356G>A (p.Ser119Asn)	TMEM131L (S119N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178634	NM_001131007.2(TMEM131L):c.3523A>G (p.Arg1175Gly)	TMEM131L (R1175G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178633	NM_001131007.2(TMEM131L):c.3482A>G (p.Asp1161Gly)	TMEM131L (D1161G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178632	NM_001131007.2(TMEM131L):c.3307C>T (p.Arg1103Trp)	TMEM131L (R1102W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178631	NM_001131007.2(TMEM131L):c.3256C>T (p.Pro1086Ser)	TMEM131L (P1085S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178630	NM_001131007.2(TMEM131L):c.3157T>G (p.Leu1053Val)	TMEM131L (L1053V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178629	NM_001131007.2(TMEM131L):c.3131A>G (p.Gln1044Arg)	TMEM131L (Q1044R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178628	NM_001131007.2(TMEM131L):c.2915A>G (p.Tyr972Cys)	TMEM131L (Y972C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178626	NM_001131007.2(TMEM131L):c.2877C>G (p.Ser959Arg)	TMEM131L (S958R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178625	NM_001131007.2(TMEM131L):c.2867C>T (p.Thr956Ile)	TMEM131L (T955I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178624	NM_001131007.2(TMEM131L):c.2857C>G (p.Pro953Ala)	TMEM131L (P953A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178623	NM_001131007.2(TMEM131L):c.2797T>C (p.Cys933Arg)	TMEM131L (C932R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178622	NM_001131007.2(TMEM131L):c.2673C>G (p.Phe891Leu)	TMEM131L (F890L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178621	NM_001131007.2(TMEM131L):c.2614T>C (p.Trp872Arg)	TMEM131L (W872R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178620	NM_001131007.2(TMEM131L):c.258T>G (p.Phe86Leu)	TMEM131L (F86L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178619	NM_001131007.2(TMEM131L):c.2588C>T (p.Pro863Leu)	TMEM131L (P863L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178617	NM_001131007.2(TMEM131L):c.2371A>G (p.Asn791Asp)	TMEM131L (N791D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178616	NM_001131007.2(TMEM131L):c.2338A>G (p.Ile780Val)	TMEM131L (I780V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178615	NM_001131007.2(TMEM131L):c.2306A>T (p.Asn769Ile)	TMEM131L (N768I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178614	NM_001131007.2(TMEM131L):c.2304G>T (p.Lys768Asn)	TMEM131L (K767N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178613	NM_001131007.2(TMEM131L):c.2251A>C (p.Met751Leu)	TMEM131L (M751L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178612	NM_001131007.2(TMEM131L):c.2024G>T (p.Gly675Val)	TMEM131L (G674V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178610	NM_001131007.2(TMEM131L):c.19C>T (p.Pro7Ser)	TMEM131L (P7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178609	NM_001131007.2(TMEM131L):c.1996G>A (p.Gly666Ser)	TMEM131L (G665S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178608	NM_001131007.2(TMEM131L):c.1928G>A (p.Gly643Asp)	TMEM131L (G642D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178607	NM_001131007.2(TMEM131L):c.1915C>G (p.His639Asp)	TMEM131L (H638D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178606	NM_001131007.2(TMEM131L):c.1900C>A (p.Leu634Ile)	TMEM131L (L634I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178605	NM_001131007.2(TMEM131L):c.1816A>C (p.Lys606Gln)	TMEM131L (K606Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178604	NM_001131007.2(TMEM131L):c.1805G>A (p.Ser602Asn)	TMEM131L (S601N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3178603	NM_001131007.2(TMEM131L):c.17G>T (p.Arg6Leu)	TMEM131L (R6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178602	NM_001131007.2(TMEM131L):c.1789G>A (p.Ala597Thr)	TMEM131L (A596T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178601	NM_001131007.2(TMEM131L):c.1751G>A (p.Arg584His)	TMEM131L (R583H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178600	NM_001131007.2(TMEM131L):c.1721A>G (p.Glu574Gly)	TMEM131L (E573G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178599	NM_001131007.2(TMEM131L):c.1712A>C (p.Lys571Thr)	TMEM131L (K571T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178598	NM_001131007.2(TMEM131L):c.1694G>A (p.Arg565Gln)	TMEM131L (R564Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178597	NM_001131007.2(TMEM131L):c.1663G>A (p.Val555Ile)	TMEM131L (V554I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178596	NM_001131007.2(TMEM131L):c.1661A>G (p.Asp554Gly)	TMEM131L (D553G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178595	NM_001131007.2(TMEM131L):c.1524G>T (p.Met508Ile)	TMEM131L (M508I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178594	NM_001131007.2(TMEM131L):c.1330C>T (p.Pro444Ser)	TMEM131L (P443S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178593	NM_001131007.2(TMEM131L):c.1282C>T (p.Leu428Phe)	TMEM131L (L428F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178592	NM_001131007.2(TMEM131L):c.1214C>G (p.Thr405Arg)	TMEM131L (T404R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178591	NM_001131007.2(TMEM131L):c.1189T>G (p.Phe397Val)	TMEM131L (F397V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178590	NM_001131007.2(TMEM131L):c.1061C>T (p.Ala354Val)	TMEM131L (A354V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178589	NM_001131007.2(TMEM131L):c.1058A>G (p.Lys353Arg)	TMEM131L (K353R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 2655136	NM_001131007.2(TMEM131L):c.3993C>T (p.Ser1331=)	TMEM131L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655135	NM_001131007.2(TMEM131L):c.2154C>T (p.Gly718=)	TMEM131L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609316	NM_001131007.2(TMEM131L):c.2253G>A (p.Met751Ile)	TMEM131L (M750I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605603	NM_001131007.2(TMEM131L):c.573A>C (p.Arg191Ser)	TMEM131L (R191S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603721	NM_001131007.2(TMEM131L):c.4679C>A (p.Thr1560Asn)	TMEM131L (T1559N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597029	NM_001131007.2(TMEM131L):c.1798C>G (p.Leu600Val)	TMEM131L (L600V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592647	NM_001131007.2(TMEM131L):c.2908G>A (p.Ala970Thr)	TMEM131L (A969T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590480	NM_001131007.2(TMEM131L):c.3958C>T (p.Arg1320Trp)	TMEM131L (R1320W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590277	NM_001131007.2(TMEM131L):c.569G>A (p.Arg190His)	TMEM131L (R190H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566646	NM_001131007.2(TMEM131L):c.2147T>C (p.Met716Thr)	TMEM131L (M715T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555496	NM_001131007.2(TMEM131L):c.2135C>A (p.Thr712Asn)	TMEM131L (T711N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537886	NM_001131007.2(TMEM131L):c.3165T>G (p.Asn1055Lys)	TMEM131L (N1055K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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