"Ambry Genetics"[submitter] AND "WDFY3-AS1"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3189730	NM_014991.6(WDFY3):c.3008G>A (p.Arg1003Gln)	WDFY3-AS1, WDFY3 (R1003Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233451	NM_014991.6(WDFY3):c.2968A>G (p.Thr990Ala)	WDFY3, WDFY3-AS1 (T990A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247736	NM_014991.6(WDFY3):c.2963T>C (p.Leu988Pro)	WDFY3, WDFY3-AS1 (L988P)	Single nucleotide variant (non-coding transcript variant +1 more)	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 1207061	NM_014991.6(WDFY3):c.2941A>C (p.Met981Leu)	WDFY3, WDFY3-AS1 (M981L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3189729	NM_014991.6(WDFY3):c.2883del (p.Lys961fs)	WDFY3, WDFY3-AS1 (K961fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2286413	NM_014991.6(WDFY3):c.2857G>A (p.Gly953Ser)	WDFY3, WDFY3-AS1 (G953S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549062	NM_014991.6(WDFY3):c.2747A>G (p.Asp916Gly)	WDFY3, WDFY3-AS1 (D916G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292314	NM_014991.6(WDFY3):c.2639A>G (p.Asn880Ser)	WDFY3, WDFY3-AS1 (N880S)	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 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 2249424	NM_014991.6(WDFY3):c.2455C>A (p.Pro819Thr)	WDFY3, WDFY3-AS1 (P819T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541240	NM_014991.6(WDFY3):c.2410C>G (p.Pro804Ala)	WDFY3, WDFY3-AS1 (P804A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469109	NM_014991.6(WDFY3):c.2395T>G (p.Ser799Ala)	WDFY3, WDFY3-AS1 (S799A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280654	NM_014991.6(WDFY3):c.2393C>T (p.Pro798Leu)	WDFY3, WDFY3-AS1 (P798L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2314854	NM_014991.6(WDFY3):c.2288G>A (p.Arg763Gln)	WDFY3, WDFY3-AS1 (R763Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518529	NM_014991.6(WDFY3):c.2287C>T (p.Arg763Trp)	WDFY3, WDFY3-AS1 (R763W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3189728	NM_014991.6(WDFY3):c.2196C>A (p.Ser732Arg)	WDFY3, WDFY3-AS1 (S732R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985990	NM_014991.6(WDFY3):c.2158C>T (p.Arg720Ter)	WDFY3, WDFY3-AS1 (R720*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3189727	NM_014991.6(WDFY3):c.2080G>A (p.Ala694Thr)	WDFY3, WDFY3-AS1 (A694T)	Single nucleotide variant (non-coding transcript variant +1 more)	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 985178	NM_014991.6(WDFY3):c.1900G>C (p.Val634Leu)	WDFY3, WDFY3-AS1 (V634L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380412	NM_014991.6(WDFY3):c.1898C>T (p.Ser633Leu)	WDFY3, WDFY3-AS1 (S633L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 25