ClinVar for Gene (Select 23001) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373526	NM_014991.6(WDFY3):c.3215A>G (p.Asn1072Ser)	WDFY3 (N1072S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373504	NM_014991.6(WDFY3):c.2327C>T (p.Ala776Val)	WDFY3, WDFY3-AS1 (A776V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373218	NM_014991.6(WDFY3):c.97A>C (p.Thr33Pro)	WDFY3 (T33P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372743	NM_014991.6(WDFY3):c.6017A>T (p.Gln2006Leu)	WDFY3 (Q2006L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372742	NM_014991.6(WDFY3):c.9775C>G (p.Pro3259Ala)	WDFY3 (P3259A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372386	NM_014991.6(WDFY3):c.2343C>A (p.Asp781Glu)	WDFY3, WDFY3-AS1 (D781E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371912	NM_014991.6(WDFY3):c.179G>A (p.Arg60Lys)	WDFY3 (R60K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371825	NM_014991.6(WDFY3):c.6782GAG[1] (p.Gly2262del)	WDFY3 (G2262del)	Microsatellite	not provided	GUncertain significance
Select item 3371713	NM_014991.6(WDFY3):c.2903C>T (p.Pro968Leu)	WDFY3, WDFY3-AS1 (P968L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371527	NM_014991.6(WDFY3):c.8101G>A (p.Gly2701Ser)	WDFY3 (G2701S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371345	NM_014991.6(WDFY3):c.6335A>T (p.Gln2112Leu)	WDFY3 (Q2112L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371282	NM_014991.6(WDFY3):c.607C>T (p.Pro203Ser)	WDFY3 (P203S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371161	NM_014991.6(WDFY3):c.6984A>T (p.Glu2328Asp)	WDFY3 (E2328D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371107	NM_014991.6(WDFY3):c.8864T>C (p.Ile2955Thr)	WDFY3 (I2955T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3370994	NM_014991.6(WDFY3):c.7226A>C (p.Glu2409Ala)	WDFY3 (E2409A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370993	NM_014991.6(WDFY3):c.7642C>G (p.Leu2548Val)	WDFY3 (L2548V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370914	NM_014991.6(WDFY3):c.32C>A (p.Pro11Gln)	WDFY3 (P11Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370561	NM_014991.6(WDFY3):c.1567C>T (p.Pro523Ser)	WDFY3 (P523S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370551	NM_014991.6(WDFY3):c.3131C>T (p.Ala1044Val)	WDFY3 (A1044V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369890	NM_014991.6(WDFY3):c.4044C>G (p.Ser1348Arg)	WDFY3 (S1348R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369888	NM_014991.6(WDFY3):c.5452A>G (p.Ile1818Val)	WDFY3 (I1818V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369762	NM_014991.6(WDFY3):c.9901C>G (p.Pro3301Ala)	WDFY3 (P3301A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369613	NM_014991.6(WDFY3):c.2707C>T (p.Arg903Ter)	WDFY3, WDFY3-AS1 (R903*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3368615	NM_014991.6(WDFY3):c.2813T>C (p.Met938Thr)	WDFY3, WDFY3-AS1 (M938T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368550	NM_014991.6(WDFY3):c.4363C>G (p.Gln1455Glu)	WDFY3 (Q1455E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368328	NM_014991.6(WDFY3):c.9199G>A (p.Asp3067Asn)	LOC126807101, WDFY3 (D3067N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368144	NM_014991.6(WDFY3):c.9181C>A (p.Leu3061Met)	LOC126807101, WDFY3 (L3061M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365983	NM_014991.6(WDFY3):c.8866G>C (p.Gly2956Arg)	WDFY3 (G2956R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365726	NM_014991.6(WDFY3):c.9841G>C (p.Glu3281Gln)	WDFY3 (E3281Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365720	NM_014991.6(WDFY3):c.6931A>G (p.Met2311Val)	WDFY3 (M2311V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365343	NM_014991.6(WDFY3):c.10210C>G (p.Arg3404Gly)	WDFY3 (R3404G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365158	NM_014991.6(WDFY3):c.6940C>T (p.His2314Tyr)	WDFY3 (H2314Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364767	NM_014991.6(WDFY3):c.2230T>C (p.Phe744Leu)	WDFY3, WDFY3-AS1 (F744L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364559	NM_014991.6(WDFY3):c.867C>G (p.Phe289Leu)	WDFY3 (F289L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364488	NM_014991.6(WDFY3):c.7179T>G (p.His2393Gln)	WDFY3 (H2393Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364410	NM_014991.6(WDFY3):c.3310A>G (p.Ser1104Gly)	WDFY3 (S1104G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364140	NM_014991.6(WDFY3):c.235C>T (p.Gln79Ter)	WDFY3 (Q79*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3364071	NM_014991.6(WDFY3):c.6151C>A (p.Arg2051Ser)	WDFY3 (R2051S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364007	NM_014991.6(WDFY3):c.1379G>A (p.Cys460Tyr)	WDFY3 (C460Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363986	NM_014991.6(WDFY3):c.2098C>G (p.Pro700Ala)	WDFY3, WDFY3-AS1 (P700A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3363377	NM_014991.6(WDFY3):c.8732T>C (p.Ile2911Thr)	WDFY3 (I2911T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363333	NM_014991.6(WDFY3):c.9076G>T (p.Val3026Leu)	LOC126807101, WDFY3 (V3026L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362230	NM_014991.6(WDFY3):c.6893A>G (p.Asn2298Ser)	WDFY3 (N2298S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362183	NM_014991.6(WDFY3):c.6037G>T (p.Val2013Leu)	WDFY3 (V2013L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362181	NM_014991.6(WDFY3):c.7651A>G (p.Ser2551Gly)	WDFY3 (S2551G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362180	NM_014991.6(WDFY3):c.2013T>G (p.Asn671Lys)	WDFY3 (N671K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3361940	NM_014991.6(WDFY3):c.1931T>A (p.Val644Asp)	WDFY3 (V644D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3361899	NM_014991.6(WDFY3):c.7220C>G (p.Ala2407Gly)	WDFY3 (A2407G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361853	NM_014991.6(WDFY3):c.2237G>A (p.Arg746Lys)	WDFY3 (R746K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361763	NM_014991.6(WDFY3):c.533C>A (p.Pro178His)	WDFY3 (P178H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361578	NM_014991.6(WDFY3):c.2222C>T (p.Thr741Ile)	WDFY3 (T741I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361573	NM_014991.6(WDFY3):c.5170A>G (p.Lys1724Glu)	WDFY3 (K1724E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361566	NM_014991.6(WDFY3):c.3406T>C (p.Tyr1136His)	WDFY3 (Y1136H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361265	NM_014991.6(WDFY3):c.2110C>G (p.His704Asp)	WDFY3 (H704D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3361250	NM_014991.6(WDFY3):c.7438A>G (p.Lys2480Glu)	WDFY3 (K2480E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361224	NM_014991.6(WDFY3):c.1813G>A (p.Asp605Asn)	WDFY3 (D605N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361151	NM_014991.6(WDFY3):c.2866G>A (p.Asp956Asn)	WDFY3 (D956N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361100	NM_014991.6(WDFY3):c.9080G>C (p.Cys3027Ser)	WDFY3 (C3027S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360215	NM_014991.6(WDFY3):c.10247T>C (p.Leu3416Ser)	WDFY3 (L3416S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360065	NM_014991.6(WDFY3):c.3622A>G (p.Ser1208Gly)	WDFY3 (S1208G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359702	NM_014991.6(WDFY3):c.5406G>A (p.Arg1802=)	WDFY3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3359548	NM_014991.6(WDFY3):c.10565G>A (p.Gly3522Glu)	WDFY3 (G3522E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359505	NM_014991.6(WDFY3):c.4822A>G (p.Ile1608Val)	WDFY3 (I1608V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359412	NM_014991.6(WDFY3):c.6339A>G (p.Gln2113=)	WDFY3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3359378	NM_014991.6(WDFY3):c.8930G>T (p.Arg2977Leu)	WDFY3 (R2977L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359336	NM_014991.6(WDFY3):c.9431G>C (p.Ser3144Thr)	WDFY3 (S3144T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3356924	NM_014991.6(WDFY3):c.6404A>G (p.Asn2135Ser)	WDFY3 (N2135S)	Single nucleotide variant (missense variant)	WDFY3-related disorder	GUncertain significance
Select item 3350211	NM_014991.6(WDFY3):c.4894C>G (p.Leu1632Val)	WDFY3 (L1632V)	Single nucleotide variant (missense variant)	WDFY3-related disorder	GUncertain significance
Select item 3349805	NM_014991.6(WDFY3):c.5313C>G (p.Ala1771=)	WDFY3	Single nucleotide variant (synonymous variant)	WDFY3-related disorder	GLikely benign
Select item 3348297	NM_014991.6(WDFY3):c.8065G>C (p.Val2689Leu)	WDFY3 (V2689L)	Single nucleotide variant (missense variant)	WDFY3-related disorder	GUncertain significance
Select item 3345822	NM_014991.6(WDFY3):c.4520T>A (p.Val1507Asp)	WDFY3 (V1507D)	Single nucleotide variant (missense variant)	WDFY3-related disorder	GUncertain significance
Select item 3344843	NM_014991.6(WDFY3):c.6993+2T>C	WDFY3	Single nucleotide variant (splice donor variant)	WDFY3-related disorder	GLikely pathogenic
Select item 3344029	NM_014991.6(WDFY3):c.6535A>T (p.Ile2179Phe)	WDFY3 (I2179F)	Single nucleotide variant (missense variant)	WDFY3-related disorder	GUncertain significance
Select item 3343802	NM_014991.6(WDFY3):c.3041G>T (p.Gly1014Val)	WDFY3 (G1014V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343166	NM_014991.6(WDFY3):c.9691G>C (p.Val3231Leu)	WDFY3 (V3231L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343050	NM_014991.6(WDFY3):c.10153C>T (p.Arg3385Ter)	WDFY3 (R3385*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3343000	NM_014991.6(WDFY3):c.2565G>A (p.Met855Ile)	WDFY3, WDFY3-AS1 (M855I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3342898	NM_014991.6(WDFY3):c.1951T>G (p.Phe651Val)	WDFY3, WDFY3-AS1 (F651V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3342573	NM_014991.6(WDFY3):c.5501A>C (p.Asn1834Thr)	WDFY3 (N1834T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342318	NM_014991.6(WDFY3):c.5833T>G (p.Cys1945Gly)	WDFY3 (C1945G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340859	NM_014991.6(WDFY3):c.4019G>A (p.Arg1340Gln)	WDFY3 (R1340Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340633	NM_014991.6(WDFY3):c.4141C>T (p.Arg1381Trp)	WDFY3 (R1381W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3338502	NM_014991.6(WDFY3):c.5525dup (p.Leu1842fs)	WDFY3 (L1842fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3338498	NM_014991.6(WDFY3):c.3827C>G (p.Pro1276Arg)	WDFY3 (P1276R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3332655	NM_014991.6(WDFY3):c.7370T>A (p.Val2457Glu)	WDFY3 (V2457E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3332654	NM_014991.6(WDFY3):c.10280T>C (p.Val3427Ala)	WDFY3 (V3427A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332653	NM_014991.6(WDFY3):c.2629G>C (p.Ala877Pro)	WDFY3, WDFY3-AS1 (A877P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332652	NM_014991.6(WDFY3):c.1799C>A (p.Pro600Gln)	WDFY3 (P600Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332651	NM_014991.6(WDFY3):c.157A>G (p.Met53Val)	WDFY3 (M53V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332650	NM_014991.6(WDFY3):c.5074G>A (p.Val1692Ile)	WDFY3 (V1692I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332649	NM_014991.6(WDFY3):c.6245G>T (p.Arg2082Ile)	WDFY3 (R2082I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332648	NM_014991.6(WDFY3):c.2946C>G (p.Ile982Met)	WDFY3-AS1, WDFY3 (I982M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3332646	NM_014991.6(WDFY3):c.4048G>A (p.Ala1350Thr)	WDFY3 (A1350T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332645	NM_014991.6(WDFY3):c.2001T>G (p.Cys667Trp)	WDFY3, WDFY3-AS1 (C667W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3332644	NM_014991.6(WDFY3):c.2000G>C (p.Cys667Ser)	WDFY3, WDFY3-AS1 (C667S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3332643	NM_014991.6(WDFY3):c.1996A>T (p.Ser666Cys)	WDFY3, WDFY3-AS1 (S666C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3332642	NM_014991.6(WDFY3):c.8486G>C (p.Arg2829Pro)	WDFY3 (R2829P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332641	NM_014991.6(WDFY3):c.4112A>G (p.Asn1371Ser)	WDFY3 (N1371S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332640	NM_014991.6(WDFY3):c.2498A>G (p.His833Arg)	WDFY3, WDFY3-AS1 (H833R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3332639	NM_014991.6(WDFY3):c.7324A>G (p.Met2442Val)	WDFY3 (M2442V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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