9325[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 1216554	NC_000015.10:g.64387691G>A	TRIP4	Single nucleotide variant	not provided	GLikely benign
Select item 1193313	NC_000015.10:g.64387740G>A	TRIP4	Single nucleotide variant	not provided	GLikely benign
Select item 3008305	NM_016213.5(TRIP4):c.10_21dup (p.Val7_Ser8insAlaGlyAlaVal)	TRIP4	Duplication (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1904001	NM_016213.5(TRIP4):c.5C>T (p.Ala2Val)	TRIP4 (A2V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1357132	NM_016213.5(TRIP4):c.20T>C (p.Val7Ala)	TRIP4 (V7A)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 776912	NM_016213.5(TRIP4):c.21G>C (p.Val7=)	TRIP4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1952782	NM_016213.5(TRIP4):c.22T>G (p.Ser8Ala)	TRIP4 (S8A)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3182937	NM_016213.5(TRIP4):c.23C>G (p.Ser8Cys)	TRIP4 (S8C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3329025	NM_016213.5(TRIP4):c.26G>A (p.Gly9Glu)	TRIP4 (G9E)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1372203	NM_016213.5(TRIP4):c.31C>T (p.Pro11Ser)	TRIP4 (P11S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1308364	NM_016213.5(TRIP4):c.35T>G (p.Leu12Arg)	TRIP4 (L12R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1223418	NM_016213.5(TRIP4):c.36G>A (p.Leu12=)	TRIP4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1520021	NM_016213.5(TRIP4):c.49A>G (p.Thr17Ala)	TRIP4 (T17A)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3233246	NM_016213.5(TRIP4):c.55_56insCT (p.Gln19fs)	TRIP4 (Q19fs)	Insertion (5 prime UTR variant +2 more)	Centronuclear myopathy	GPathogenic
Select item 2006532	NM_016213.5(TRIP4):c.55C>G (p.Gln19Glu)	TRIP4 (Q19E)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2715719	NM_016213.5(TRIP4):c.59T>A (p.Leu20Ter)	TRIP4 (L20*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2858561	NM_016213.5(TRIP4):c.75C>T (p.Gly25=)	TRIP4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2011425	NM_016213.5(TRIP4):c.101+7A>C	TRIP4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 725010	NM_016213.5(TRIP4):c.101+8C>T	TRIP4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2786661	NM_016213.5(TRIP4):c.101+13C>T	TRIP4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1251827	NM_016213.5(TRIP4):c.101+228C>A	TRIP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215423	NM_016213.5(TRIP4):c.101+229A>G	TRIP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203048	NM_016213.5(TRIP4):c.101+246A>G	TRIP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219834	NM_016213.5(TRIP4):c.102-212C>T	TRIP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1177845	NM_016213.5(TRIP4):c.102-47del	TRIP4	Deletion (intron variant)	not provided	GLikely benign
Select item 1900993	NM_016213.5(TRIP4):c.102-18A>G	TRIP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 744509	NM_016213.5(TRIP4):c.102-4T>C	TRIP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2198342	NM_016213.5(TRIP4):c.106G>A (p.Val36Ile)	TRIP4 (V36I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1717390	NM_016213.5(TRIP4):c.112T>A (p.Ser38Thr)	TRIP4 (S38T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3029184	NM_016213.5(TRIP4):c.115A>G (p.Ile39Val)	TRIP4 (I39V)	Single nucleotide variant (5 prime UTR variant +2 more)	TRIP4-related disorder	GUncertain significance
Select item 1934244	NM_016213.5(TRIP4):c.135dup (p.Arg46fs)	TRIP4 (R46fs)	Duplication (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2907549	NM_016213.5(TRIP4):c.136C>T (p.Arg46Ter)	TRIP4 (R46*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2437332	NM_016213.5(TRIP4):c.137G>A (p.Arg46Gln)	TRIP4 (R46Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2920994	NM_016213.5(TRIP4):c.143A>G (p.Tyr48Cys)	TRIP4 (Y48C)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1978007	NM_016213.5(TRIP4):c.155TCC[1] (p.Leu53del)	TRIP4 (L53del)	Microsatellite (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3016350	NM_016213.5(TRIP4):c.156C>G (p.Leu52=)	TRIP4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2751750	NM_016213.5(TRIP4):c.160C>T (p.Gln54Ter)	TRIP4 (Q54*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 1325237	NM_016213.5(TRIP4):c.180del (p.Gly61fs)	TRIP4 (G61fs)	Deletion (5 prime UTR variant +2 more)	not provided	GPathogenic/Likely pathogenic
Select item 1916616	NM_016213.5(TRIP4):c.222T>C (p.Asn74=)	TRIP4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2245247	NM_016213.5(TRIP4):c.245C>T (p.Pro82Leu)	TRIP4 (P82L)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 781294	NM_016213.5(TRIP4):c.255G>A (p.Gln85=)	TRIP4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign/Likely benign
Select item 710472	NM_016213.5(TRIP4):c.258C>T (p.Cys86=)	TRIP4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign/Likely benign
Select item 1801722	NM_016213.5(TRIP4):c.265A>T (p.Lys89Ter)	TRIP4 (K89*)	Single nucleotide variant (5 prime UTR variant +2 more)	Spinal muscular atrophy with congenital bone fractures 1	GPathogenic
Select item 1904101	NM_016213.5(TRIP4):c.271+18T>C	TRIP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1297865	NM_016213.5(TRIP4):c.271+73T>A	TRIP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282174	NM_016213.5(TRIP4):c.271+118G>A	TRIP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265407	NM_016213.5(TRIP4):c.272-290dup	TRIP4	Duplication (intron variant)	not provided	GBenign
Select item 2984371	NM_016213.5(TRIP4):c.272-12C>T	TRIP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2581351	NM_016213.5(TRIP4):c.272-1G>T	TRIP4	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1311736	NM_016213.5(TRIP4):c.298G>A (p.Asp100Asn)	TRIP4 (D100N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 3182938	NM_016213.5(TRIP4):c.314G>T (p.Gly105Val)	TRIP4 (G105V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1323715	NM_016213.5(TRIP4):c.336_339del (p.Gln113fs)	TRIP4 (Q113fs)	Microsatellite (5 prime UTR variant +2 more)	Spinal muscular atrophy with congenital bone fractures 1 +1 more	GPathogenic/Likely pathogenic
Select item 559572	NM_016213.5(TRIP4):c.350C>T (p.Ala117Val)	TRIP4 (A117V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2050123	NM_016213.5(TRIP4):c.367A>C (p.Thr123Pro)	TRIP4 (T123P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1378104	NM_016213.5(TRIP4):c.367A>G (p.Thr123Ala)	TRIP4 (T123A)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2074636	NM_016213.5(TRIP4):c.368C>T (p.Thr123Met)	TRIP4 (T123M)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 762306	NM_016213.5(TRIP4):c.369G>T (p.Thr123=)	TRIP4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 714598	NM_016213.5(TRIP4):c.369G>A (p.Thr123=)	TRIP4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 750236	NM_016213.5(TRIP4):c.393T>C (p.Phe131=)	TRIP4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2778990	NM_016213.5(TRIP4):c.402C>A (p.Ala134=)	TRIP4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2967180	NM_016213.5(TRIP4):c.405+16T>C	TRIP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265690	NM_016213.5(TRIP4):c.405+224del	TRIP4	Deletion (intron variant)	not provided	GBenign
Select item 1205359	NM_016213.5(TRIP4):c.405+224T>C	TRIP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1535495	NM_016213.5(TRIP4):c.406-6C>T	TRIP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1508780	NM_016213.5(TRIP4):c.410A>G (p.Gln137Arg)	TRIP4 (Q137R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2002769	NM_016213.5(TRIP4):c.422del (p.Asn141fs)	TRIP4 (N141fs)	Deletion (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 1509613	NM_016213.5(TRIP4):c.427G>A (p.Val143Ile)	TRIP4 (V143I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2683315	NM_016213.5(TRIP4):c.445T>C (p.Phe149Leu)	TRIP4 (F149L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 738666	NM_016213.5(TRIP4):c.452A>G (p.Asn151Ser)	TRIP4 (N151S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign/Likely benign
Select item 961908	NM_016213.5(TRIP4):c.462_463del (p.Glu156fs)	TRIP4 (E156fs)	Deletion (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 3002469	NM_016213.5(TRIP4):c.470G>T (p.Gly157Val)	TRIP4 (G157V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2122425	NM_016213.5(TRIP4):c.472C>T (p.Gln158Ter)	TRIP4 (Q158*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2771948	NM_016213.5(TRIP4):c.474G>A (p.Gln158=)	TRIP4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2147381	NM_016213.5(TRIP4):c.481C>T (p.Leu161Phe)	TRIP4 (L161F)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 732800	NM_016213.5(TRIP4):c.484G>T (p.Ala162Ser)	TRIP4 (A162S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1922008	NM_016213.5(TRIP4):c.492G>A (p.Leu164=)	TRIP4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2263255	NM_016213.5(TRIP4):c.505C>G (p.His169Asp)	TRIP4 (H169D)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1327918	NM_016213.5(TRIP4):c.512G>A (p.Cys171Tyr)	TRIP4 (C171Y)	Single nucleotide variant (5 prime UTR variant +2 more)	Spinal muscular atrophy with congenital bone fractures 1	GUncertain significance
Select item 1308365	NM_016213.5(TRIP4):c.530A>G (p.Lys177Arg)	TRIP4 (K177R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1304442	NM_016213.5(TRIP4):c.534C>G (p.His178Gln)	TRIP4 (H178Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1404416	NM_016213.5(TRIP4):c.565C>T (p.Arg189Cys)	TRIP4 (R189C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1720622	NM_016213.5(TRIP4):c.571G>A (p.Val191Ile)	TRIP4 (V191I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 779161	NM_016213.5(TRIP4):c.582A>G (p.Gln194=)	TRIP4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 2090358	NM_016213.5(TRIP4):c.603A>G (p.Leu201=)	TRIP4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1904167	NM_016213.5(TRIP4):c.615T>C (p.Thr205=)	TRIP4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3012810	NM_016213.5(TRIP4):c.618+13T>G	TRIP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978714	NM_016213.5(TRIP4):c.618+17C>T	TRIP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243997	NM_016213.5(TRIP4):c.619-287A>G	TRIP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226495	NM_016213.5(TRIP4):c.619-254del	TRIP4	Deletion (intron variant)	not provided	GBenign
Select item 2831199	NM_016213.5(TRIP4):c.619-16T>C	TRIP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247936	NM_016213.5(TRIP4):c.619-11C>G	TRIP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3017683	NM_016213.5(TRIP4):c.619-9A>G	TRIP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1916062	NM_016213.5(TRIP4):c.625A>C (p.Thr209Pro)	TRIP4 (T209P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2690275	NM_016213.5(TRIP4):c.644T>C (p.Ile215Thr)	TRIP4 (I215T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1915834	NM_016213.5(TRIP4):c.678G>A (p.Leu226=)	TRIP4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2635870	NM_016213.5(TRIP4):c.691A>G (p.Met231Val)	TRIP4 (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	TRIP4-related disorder	GUncertain significance
Select item 2244413	NM_016213.5(TRIP4):c.693G>C (p.Met231Ile)	TRIP4 (M1I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1203956	NM_016213.5(TRIP4):c.697+30G>A	TRIP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203036	NM_016213.5(TRIP4):c.697+40G>A	TRIP4	Single nucleotide variant (intron variant)	not provided	GLikely benign

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