ClinVar for MedGen (Select 1391110) - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236646	NM_014991.6(WDFY3):c.7297_7298insC (p.Val2433fs)	WDFY3 (V2433fs)	Insertion (frameshift variant)	Microcephaly 18, primary, autosomal dominant	GPathogenic
Select item 3236216	NM_014991.6(WDFY3):c.9662del (p.Ser3221fs)	WDFY3 (S3221fs)	Deletion (frameshift variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 3234098	NM_014991.6(WDFY3):c.8894C>A (p.Pro2965His)	WDFY3 (P2965H)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 3068450	NM_014991.6(WDFY3):c.7304dup (p.Tyr2435Ter)	WDFY3 (Y2435*)	Duplication (nonsense)	Microcephaly 18, primary, autosomal dominant	GLikely pathogenic
Select item 3066117	NM_014991.6(WDFY3):c.290C>G (p.Ser97Ter)	WDFY3 (S97*)	Single nucleotide variant (nonsense)	Microcephaly 18, primary, autosomal dominant	GLikely pathogenic
Select item 3062148	NM_014991.6(WDFY3):c.10055C>G (p.Ser3352Ter)	WDFY3 (S3352*)	Single nucleotide variant (nonsense)	Microcephaly 18, primary, autosomal dominant	Gnot provided
Select item 2690487	NM_014991.6(WDFY3):c.2282C>T (p.Thr761Met)	WDFY3, WDFY3-AS1 (T761M)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant +1 more	GLikely benign
Select item 2690447	NM_014991.6(WDFY3):c.6208G>T (p.Asp2070Tyr)	WDFY3 (D2070Y)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 2672154	NM_014991.6(WDFY3):c.8901+1G>A	WDFY3	Single nucleotide variant (splice donor variant)	Microcephaly 18, primary, autosomal dominant	GLikely pathogenic
Select item 2442018	NM_014991.6(WDFY3):c.5825C>T (p.Ser1942Leu)	WDFY3 (S1942L)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GLikely pathogenic
Select item 2438566	NM_014991.6(WDFY3):c.4739G>A (p.Ser1580Asn)	WDFY3 (S1580N)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 2438565	NM_014991.6(WDFY3):c.1792C>T (p.Leu598Phe)	WDFY3 (L598F)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 2438564	NM_014991.6(WDFY3):c.8033T>G (p.Val2678Gly)	WDFY3 (V2678G)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 2438563	NM_014991.6(WDFY3):c.3172C>G (p.Leu1058Val)	WDFY3 (L1058V)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 2438562	NM_014991.6(WDFY3):c.10114A>C (p.Ile3372Leu)	WDFY3 (I3372L)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 2438561	NM_014991.6(WDFY3):c.7095C>A (p.His2365Gln)	WDFY3 (H2365Q)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 2434617	NM_014991.6(WDFY3):c.8693del (p.Leu2898fs)	WDFY3 (L2898fs)	Deletion (frameshift variant)	Microcephaly 18, primary, autosomal dominant	GLikely pathogenic
Select item 2328598	NM_014991.6(WDFY3):c.9326C>T (p.Thr3109Ile)	WDFY3 (T3109I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1805818	NM_014991.6(WDFY3):c.7324A>C (p.Met2442Leu)	WDFY3 (M2442L)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1805688	NM_014991.6(WDFY3):c.4518+7A>G	WDFY3	Single nucleotide variant (intron variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1805588	NM_014991.6(WDFY3):c.7189G>T (p.Val2397Leu)	WDFY3 (V2397L)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1804160	NM_014991.6(WDFY3):c.8396A>G (p.Tyr2799Cys)	WDFY3 (Y2799C)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1801502	NM_014991.6(WDFY3):c.9302T>G (p.Val3101Gly)	WDFY3 (V3101G)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1709645	NM_014991.6(WDFY3):c.2785C>T (p.Arg929Ter)	WDFY3, WDFY3-AS1 (R929*)	Single nucleotide variant (nonsense)	Microcephaly 18, primary, autosomal dominant	GLikely pathogenic
Select item 1699044	NM_014991.6(WDFY3):c.3473T>G (p.Leu1158Arg)	WDFY3 (L1158R)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1696631	NM_014991.6(WDFY3):c.7684T>G (p.Phe2562Val)	WDFY3 (F2562V)	Single nucleotide variant (missense variant)	WDFY3-related disorder +1 more	GUncertain significance
Select item 1696515	NM_014991.6(WDFY3):c.9260G>T (p.Cys3087Phe)	WDFY3 (C3087F)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1695096	NM_014991.6(WDFY3):c.9094A>G (p.Ile3032Val)	LOC126807101, WDFY3 (I3032V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1695095	NM_014991.6(WDFY3):c.9304G>A (p.Val3102Met)	WDFY3 (V3102M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1679698	NM_014991.6(WDFY3):c.9754C>T (p.Pro3252Ser)	WDFY3 (P3252S)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1342397	NM_014991.6(WDFY3):c.4559T>A (p.Phe1520Tyr)	WDFY3 (F1520Y)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1342386	NM_014991.6(WDFY3):c.9823+1507C>T	WDFY3	Single nucleotide variant (intron variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1334627	NM_014991.6(WDFY3):c.9496C>T (p.Arg3166Ter)	WDFY3 (R3166*)	Single nucleotide variant (nonsense)	Microcephaly 18, primary, autosomal dominant	GLikely pathogenic
Select item 1325748	NM_014991.6(WDFY3):c.5242C>T (p.Arg1748Ter)	WDFY3 (R1748*)	Single nucleotide variant (nonsense)	Neurodevelopmental delay +1 more	GConflicting classifications of pathogenicity
Select item 1325598	NM_014991.6(WDFY3):c.6370A>G (p.Thr2124Ala)	WDFY3 (T2124A)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1325516	NM_014991.6(WDFY3):c.4828A>C (p.Asn1610His)	WDFY3 (N1610H)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1299391	NM_014991.6(WDFY3):c.9449C>A (p.Thr3150Asn)	WDFY3 (T3150N)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1246067	NM_014991.6(WDFY3):c.9204+47T>C	LOC126807101, WDFY3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1233860	NM_014991.6(WDFY3):c.3487+8dup	WDFY3	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1213742	NM_014991.6(WDFY3):c.9134C>G (p.Thr3045Ser)	LOC126807101, WDFY3 (T3045S)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1213732	NM_014991.6(WDFY3):c.6317C>G (p.Ala2106Gly)	WDFY3 (A2106G)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1184342	NM_014991.6(WDFY3):c.5404C>T (p.Arg1802Trp)	WDFY3 (R1802W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1180128	NM_014991.6(WDFY3):c.336A>G (p.Leu112=)	WDFY3	Single nucleotide variant (synonymous variant)	Microcephaly 18, primary, autosomal dominant +1 more	GBenign
Select item 1174114	NM_014991.6(WDFY3):c.4063-1G>T	WDFY3	Single nucleotide variant (splice acceptor variant)	Microcephaly 18, primary, autosomal dominant	GPathogenic
Select item 1172659	NM_014991.6(WDFY3):c.5114_5115del (p.Lys1705fs)	WDFY3 (K1705fs)	Deletion (frameshift variant)	Macrocephaly +1 more	GLikely pathogenic
Select item 1065459	NM_014991.6(WDFY3):c.8474T>G (p.Phe2825Cys)	WDFY3 (F2825C)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1033721	NM_014991.6(WDFY3):c.10486C>T (p.Arg3496Cys)	WDFY3 (R3496C)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 1031853	NM_014991.6(WDFY3):c.9347C>A (p.Thr3116Asn)	WDFY3 (T3116N)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1029337	NM_014991.6(WDFY3):c.8287C>T (p.Arg2763Ter)	WDFY3 (R2763*)	Single nucleotide variant (nonsense)	Microcephaly 18, primary, autosomal dominant	GLikely pathogenic
Select item 1029336	NM_014991.6(WDFY3):c.7910G>A (p.Arg2637Gln)	WDFY3 (R2637Q)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1027921	NM_014991.6(WDFY3):c.6619C>G (p.Leu2207Val)	WDFY3 (L2207V)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1027920	NM_014991.6(WDFY3):c.6398C>T (p.Pro2133Leu)	WDFY3 (P2133L)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1027919	NM_014991.6(WDFY3):c.1150T>G (p.Phe384Val)	WDFY3 (F384V)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 982381	NM_014991.6(WDFY3):c.957-2A>G	WDFY3	Single nucleotide variant (splice acceptor variant)	Microcephaly 18, primary, autosomal dominant	GLikely pathogenic
Select item 977887	NM_014991.6(WDFY3):c.1153G>A (p.Ala385Thr)	WDFY3 (A385T)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GLikely benign
Select item 977388	NM_014991.6(WDFY3):c.2347C>T (p.Arg783Cys)	WDFY3, WDFY3-AS1 (R783C)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 976391	NM_014991.6(WDFY3):c.749A>G (p.Asn250Ser)	WDFY3 (N250S)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 976367	NM_014991.6(WDFY3):c.6820T>C (p.Ser2274Pro)	WDFY3 (S2274P)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 975778	NM_014991.6(WDFY3):c.1670T>C (p.Leu557Pro)	WDFY3 (L557P)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GLikely pathogenic
Select item 975777	NM_014991.6(WDFY3):c.2459_2460del (p.Pro820fs)	WDFY3-AS1, WDFY3 (P820fs)	Deletion (frameshift variant)	Microcephaly 18, primary, autosomal dominant	GPathogenic
Select item 446237	NM_014991.6(WDFY3):c.7909C>T (p.Arg2637Trp)	WDFY3 (R2637W)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Items: 61