"Ambry Genetics"[submitter] AND "ZC3HAV1"[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3192456	NM_020119.4(ZC3HAV1):c.2631T>G (p.Phe877Leu)	ZC3HAV1 (F877L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286320	NM_020119.4(ZC3HAV1):c.2596A>G (p.Ser866Gly)	ZC3HAV1 (S327G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334120	NM_020119.4(ZC3HAV1):c.2470G>C (p.Ala824Pro)	ZC3HAV1 (A824P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541034	NM_020119.4(ZC3HAV1):c.2396C>T (p.Ser799Leu)	ZC3HAV1 (S921L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380656	NM_020119.4(ZC3HAV1):c.2210A>G (p.His737Arg)	ZC3HAV1 (H198R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353774	NM_020119.4(ZC3HAV1):c.2158T>G (p.Phe720Val)	ZC3HAV1 (F842V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459842	NM_020119.4(ZC3HAV1):c.2144G>A (p.Arg715His)	ZC3HAV1 (R176H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455749	NM_020119.4(ZC3HAV1):c.2143C>T (p.Arg715Cys)	ZC3HAV1 (R176C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474388	NM_020119.4(ZC3HAV1):c.2117C>T (p.Ser706Leu)	ZC3HAV1 (S167L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389956	NM_020119.4(ZC3HAV1):c.2053T>C (p.Phe685Leu)	ZC3HAV1 (F685L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192455	NM_020119.4(ZC3HAV1):c.2020A>G (p.Lys674Glu)	ZC3HAV1 (K796E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512954	NM_020119.4(ZC3HAV1):c.1969C>T (p.Arg657Trp)	ZC3HAV1 (R657W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192454	NM_020119.4(ZC3HAV1):c.1937C>T (p.Pro646Leu)	ZC3HAV1 (P646L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192453	NM_020119.4(ZC3HAV1):c.1909T>C (p.Tyr637His)	ZC3HAV1 (Y637H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192452	NM_020119.4(ZC3HAV1):c.1811C>T (p.Thr604Ile)	ZC3HAV1 (T604I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496203	NM_020119.4(ZC3HAV1):c.1799A>T (p.Asn600Ile)	ZC3HAV1 (N722I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192451	NM_020119.4(ZC3HAV1):c.1769C>G (p.Ser590Cys)	ZC3HAV1 (S712C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474849	NM_020119.4(ZC3HAV1):c.1748C>T (p.Ser583Phe)	ZC3HAV1 (S705F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3334117	NM_020119.4(ZC3HAV1):c.1740T>G (p.Ser580Arg)	ZC3HAV1 (S580R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192450	NM_020119.4(ZC3HAV1):c.1687G>A (p.Gly563Arg)	ZC3HAV1 (G563R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3192449	NM_020119.4(ZC3HAV1):c.1673G>C (p.Gly558Ala)	ZC3HAV1 (G680A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2232285	NM_020119.4(ZC3HAV1):c.1665C>G (p.Ile555Met)	ZC3HAV1 (I677M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543873	NM_020119.4(ZC3HAV1):c.1620G>A (p.Met540Ile)	ZC3HAV1 (M662I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192448	NM_020119.4(ZC3HAV1):c.1498A>G (p.Thr500Ala)	ZC3HAV1 (T622A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387762	NM_020119.4(ZC3HAV1):c.1435G>A (p.Ala479Thr)	ZC3HAV1 (A479T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2361641	NM_020119.4(ZC3HAV1):c.1233G>C (p.Arg411Ser)	ZC3HAV1 (R411S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396051	NM_020119.4(ZC3HAV1):c.1196C>T (p.Thr399Ile)	ZC3HAV1 (T399I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192447	NM_020119.4(ZC3HAV1):c.1154G>A (p.Arg385His)	ZC3HAV1 (R385H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321963	NM_020119.4(ZC3HAV1):c.1154G>T (p.Arg385Leu)	ZC3HAV1 (R385L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2463278	NM_020119.4(ZC3HAV1):c.1150G>A (p.Ala384Thr)	ZC3HAV1 (A384T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275408	NM_020119.4(ZC3HAV1):c.1139C>A (p.Thr380Lys)	ZC3HAV1 (T380K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207601	NM_020119.4(ZC3HAV1):c.1130T>A (p.Phe377Tyr)	ZC3HAV1 (F377Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263416	NM_020119.4(ZC3HAV1):c.1122G>C (p.Lys374Asn)	ZC3HAV1 (K374N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529582	NM_020119.4(ZC3HAV1):c.1097C>T (p.Thr366Met)	ZC3HAV1 (T366M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466702	NM_020119.4(ZC3HAV1):c.1000G>A (p.Gly334Ser)	ZC3HAV1 (G334S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281643	NM_020119.4(ZC3HAV1):c.950A>C (p.Asp317Ala)	ZC3HAV1 (D317A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334114	NM_020119.4(ZC3HAV1):c.914G>A (p.Arg305His)	ZC3HAV1 (R305H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2265045	NM_020119.4(ZC3HAV1):c.913C>T (p.Arg305Cys)	ZC3HAV1 (R305C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2320803	NM_020119.4(ZC3HAV1):c.893C>G (p.Thr298Arg)	ZC3HAV1 (T298R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192461	NM_020119.4(ZC3HAV1):c.884G>T (p.Arg295Leu)	ZC3HAV1 (R295L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256118	NM_020119.4(ZC3HAV1):c.844A>G (p.Arg282Gly)	ZC3HAV1 (R282G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334116	NM_020119.4(ZC3HAV1):c.802G>C (p.Ala268Pro)	ZC3HAV1 (A268P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192460	NM_020119.4(ZC3HAV1):c.797C>T (p.Ala266Val)	ZC3HAV1 (A266V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277026	NM_020119.4(ZC3HAV1):c.781C>A (p.Leu261Ile)	ZC3HAV1 (L261I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334115	NM_020119.4(ZC3HAV1):c.748A>G (p.Arg250Gly)	ZC3HAV1 (R250G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192459	NM_020119.4(ZC3HAV1):c.745A>G (p.Ser249Gly)	ZC3HAV1 (S249G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192458	NM_020119.4(ZC3HAV1):c.547C>T (p.Arg183Cys)	ZC3HAV1 (R183C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544714	NM_020119.4(ZC3HAV1):c.479A>C (p.Gln160Pro)	ZC3HAV1 (Q160P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412383	NM_020119.4(ZC3HAV1):c.472C>T (p.Arg158Trp)	ZC3HAV1 (R158W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192457	NM_020119.4(ZC3HAV1):c.376C>G (p.Leu126Val)	ZC3HAV1 (L126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539573	NM_020119.4(ZC3HAV1):c.250A>T (p.Asn84Tyr)	ZC3HAV1 (N84Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596731	NM_020119.4(ZC3HAV1):c.206G>A (p.Arg69Gln)	ZC3HAV1 (R69Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387081	NM_020119.4(ZC3HAV1):c.166G>A (p.Gly56Ser)	ZC3HAV1 (G56S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334119	NM_020119.4(ZC3HAV1):c.143G>A (p.Arg48His)	ZC3HAV1 (R48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251814	NM_020119.4(ZC3HAV1):c.22T>G (p.Cys8Gly)	ZC3HAV1 (C8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 55