"Ambry Genetics"[submitter] AND "ZNF341"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2242741	NM_001282933.2(ZNF341):c.49G>A (p.Val17Ile)	ZNF341 (V17I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1461388	NM_001282933.2(ZNF341):c.121C>T (p.Pro41Ser)	ZNF341 (P41S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2284362	NM_001282933.2(ZNF341):c.341T>A (p.Ile114Asn)	ZNF341 (I114N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1419312	NM_001282933.2(ZNF341):c.347C>G (p.Thr116Arg)	ZNF341 (T116R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2490113	NM_001282933.2(ZNF341):c.392A>C (p.Gln131Pro)	ZNF341 (Q131P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277028	NM_001282933.2(ZNF341):c.413A>G (p.Asp138Gly)	ZNF341 (D138G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268220	NM_001282933.2(ZNF341):c.421C>A (p.Leu141Ile)	ZNF341 (L141I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1447694	NM_001282933.2(ZNF341):c.467C>A (p.Pro156His)	ZNF341 (P66H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2303580	NM_001282933.2(ZNF341):c.478C>T (p.Pro160Ser)	ZNF341 (P160S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1419769	NM_001282933.2(ZNF341):c.626G>A (p.Arg209His)	ZNF341 (R119H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2538409	NM_001282933.2(ZNF341):c.886C>G (p.Pro296Ala)	ZNF341 (P206A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211538	NM_001282933.2(ZNF341):c.902C>T (p.Thr301Ile)	ZNF341 (T211I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1031001	NM_001282933.2(ZNF341):c.910G>A (p.Ala304Thr)	ZNF341 (A304T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2174157	NM_001282933.2(ZNF341):c.955G>C (p.Ala319Pro)	ZNF341 (A319P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2232842	NM_001282933.2(ZNF341):c.969G>C (p.Lys323Asn)	ZNF341 (K233N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263636	NM_001282933.2(ZNF341):c.1070G>A (p.Arg357His)	ZNF341 (R357H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284443	NM_001282933.2(ZNF341):c.1112C>T (p.Thr371Ile)	ZNF341 (T371I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277421	NM_001282933.2(ZNF341):c.1141G>A (p.Gly381Ser)	ZNF341 (G291S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2237475	NM_001282933.2(ZNF341):c.1150G>A (p.Val384Met)	ZNF341 (V294M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1384624	NM_001282933.2(ZNF341):c.1210G>A (p.Glu404Lys)	ZNF341 (E397K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1399374	NM_001282933.2(ZNF341):c.1298C>T (p.Pro433Leu)	ZNF341 (P343L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2314044	NM_001282933.2(ZNF341):c.1510C>G (p.Arg504Gly)	ZNF341 (R504G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1408338	NM_001282933.2(ZNF341):c.1525G>A (p.Gly509Ser)	ZNF341 (G419S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2527706	NM_001282933.2(ZNF341):c.1896C>A (p.Asn632Lys)	ZNF341, ZNF341-AS1 (N625K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2092185	NM_001282933.2(ZNF341):c.1916G>A (p.Arg639Lys)	ZNF341, ZNF341-AS1 (R549K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2194428	NM_001282933.2(ZNF341):c.2000C>T (p.Pro667Leu)	ZNF341, ZNF341-AS1 (P577L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2161342	NM_001282933.2(ZNF341):c.2069A>G (p.Lys690Arg)	ZNF341-AS1, ZNF341 (K600R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2216427	NM_001282933.2(ZNF341):c.2107C>T (p.Arg703Cys)	ZNF341, ZNF341-AS1 (R613C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1512436	NM_001282933.2(ZNF341):c.2108G>A (p.Arg703His)	ZNF341, ZNF341-AS1 (R613H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1369234	NM_001282933.2(ZNF341):c.2135G>A (p.Arg712His)	ZNF341, ZNF341-AS1 (R622H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2297143	NM_001282933.2(ZNF341):c.2197C>A (p.Leu733Ile)	ZNF341, ZNF341-AS1 (L643I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285311	NM_001282933.2(ZNF341):c.2197C>T (p.Leu733Phe)	ZNF341-AS1, ZNF341 (L726F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1386537	NM_001282933.2(ZNF341):c.2230C>T (p.Arg744Trp)	ZNF341, ZNF341-AS1 (R654W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1472829	NM_001282933.2(ZNF341):c.2260C>A (p.Arg754Ser)	ZNF341, ZNF341-AS1 (R664S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2378910	NM_001282933.2(ZNF341):c.2269G>C (p.Gly757Arg)	ZNF341, ZNF341-AS1 (G757R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1450955	NM_001282933.2(ZNF341):c.2269G>A (p.Gly757Ser)	ZNF341, ZNF341-AS1 (G667S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1907521	NM_001282933.2(ZNF341):c.2275G>C (p.Gly759Arg)	ZNF341, ZNF341-AS1 (G759R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2550463	NM_001282933.2(ZNF341):c.2344G>A (p.Gly782Arg)	ZNF341, ZNF341-AS1 (G692R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1396832	NM_001282933.2(ZNF341):c.2368G>A (p.Gly790Ser)	ZNF341, ZNF341-AS1 (G790S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1436337	NM_001282933.2(ZNF341):c.2383G>A (p.Ala795Thr)	ZNF341, ZNF341-AS1 (A705T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2614954	NM_001282933.2(ZNF341):c.2390C>G (p.Pro797Arg)	ZNF341, ZNF341-AS1 (P707R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1421330	NM_001282933.2(ZNF341):c.2396C>T (p.Ala799Val)	ZNF341, ZNF341-AS1 (A792V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1357178	NM_001282933.2(ZNF341):c.2410G>A (p.Val804Ile)	ZNF341, ZNF341-AS1 (V797I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1349395	NM_001282933.2(ZNF341):c.2467G>C (p.Gly823Arg)	ZNF341, ZNF341-AS1 (G816R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2256624	NM_001282933.2(ZNF341):c.2489T>C (p.Leu830Pro)	ZNF341-AS1, ZNF341 (L740P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1406068	NM_001282933.2(ZNF341):c.2509G>A (p.Ala837Thr)	ZNF341, ZNF341-AS1 (A830T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1525412	NM_001282933.2(ZNF341):c.2512G>A (p.Glu838Lys)	ZNF341, ZNF341-AS1 (E831K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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Items: 47