Related gene-specific medical variations for Gene (Select 125893) - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259683	NM_001202457.3(ZNF816):c.959A>G (p.Lys320Arg)	ZNF816, ZNF816-ZNF321P (K320R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259682	NM_001202457.3(ZNF816):c.1258A>C (p.Thr420Pro)	ZNF816, ZNF816-ZNF321P (T420P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259681	NM_001202457.3(ZNF816):c.1303C>T (p.Arg435Trp)	ZNF816, ZNF816-ZNF321P (R435W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259680	NM_001202457.3(ZNF816):c.422G>A (p.Arg141Gln)	ZNF816, ZNF816-ZNF321P (R141Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259679	NM_001202457.3(ZNF816):c.379G>C (p.Ala127Pro)	ZNF816, ZNF816-ZNF321P (A127P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259677	NM_001202457.3(ZNF816):c.766G>C (p.Glu256Gln)	ZNF816, ZNF816-ZNF321P (E256Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3259676	NM_001202457.3(ZNF816):c.764G>A (p.Arg255Lys)	ZNF816, ZNF816-ZNF321P (R255K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3259675	NM_001202457.3(ZNF816):c.977C>T (p.Ser326Leu)	ZNF816, ZNF816-ZNF321P (S326L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198621	NM_001202457.3(ZNF816):c.989G>A (p.Cys330Tyr)	ZNF816, ZNF816-ZNF321P (C330Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198620	NM_001202457.3(ZNF816):c.410G>A (p.Gly137Asp)	ZNF816, ZNF816-ZNF321P (G137D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198619	NM_001202457.3(ZNF816):c.374A>G (p.His125Arg)	ZNF816, ZNF816-ZNF321P (H125R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198618	NM_001202457.3(ZNF816):c.351G>T (p.Trp117Cys)	ZNF816, ZNF816-ZNF321P (W117C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198617	NM_001202457.3(ZNF816):c.1898A>G (p.Gln633Arg)	ZNF816, ZNF816-ZNF321P (Q633R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198616	NM_001202457.3(ZNF816):c.1796G>C (p.Gly599Ala)	ZNF816, ZNF816-ZNF321P (G599A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198615	NM_001202457.3(ZNF816):c.1765G>A (p.Gly589Arg)	ZNF816, ZNF816-ZNF321P (G589R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198614	NM_001202457.3(ZNF816):c.1763C>G (p.Thr588Ser)	ZNF816, ZNF816-ZNF321P (T588S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198613	NM_001202457.3(ZNF816):c.1614A>C (p.Lys538Asn)	ZNF816, ZNF816-ZNF321P (K538N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198612	NM_001202457.3(ZNF816):c.1507C>T (p.His503Tyr)	ZNF816, ZNF816-ZNF321P (H503Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198611	NM_001202457.3(ZNF816):c.1295A>G (p.Lys432Arg)	ZNF816, ZNF816-ZNF321P (K432R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198610	NM_001202457.3(ZNF816):c.1222C>T (p.Arg408Cys)	ZNF816, ZNF816-ZNF321P (R408C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198608	NM_001202457.3(ZNF816):c.1208A>C (p.Asp403Ala)	ZNF816, ZNF816-ZNF321P (D403A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198607	NM_001202457.3(ZNF816):c.1166T>C (p.Ile389Thr)	ZNF816, ZNF816-ZNF321P (I389T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198606	NM_001202457.3(ZNF816):c.1150C>G (p.Leu384Val)	ZNF816, ZNF816-ZNF321P (L384V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198605	NM_001202457.3(ZNF816):c.1032T>G (p.Asn344Lys)	ZNF816, ZNF816-ZNF321P (N344K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650402	NM_001202457.3(ZNF816):c.1143A>G (p.Lys381=)	ZNF816, ZNF816-ZNF321P	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2650401	NM_001202457.3(ZNF816):c.1371A>G (p.Lys457=)	ZNF816, ZNF816-ZNF321P	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2650400	NM_001202457.3(ZNF816):c.1383T>C (p.Ser461=)	ZNF816, ZNF816-ZNF321P	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2617804	NM_001202457.3(ZNF816):c.499C>T (p.Leu167Phe)	ZNF816, ZNF816-ZNF321P (L167F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556573	NM_001202457.3(ZNF816):c.1543G>C (p.Asp515His)	ZNF816, ZNF816-ZNF321P (D515H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552142	NM_001202457.3(ZNF816):c.1028G>A (p.Cys343Tyr)	ZNF816, ZNF816-ZNF321P (C343Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536240	NM_001202457.3(ZNF816):c.1036T>C (p.Cys346Arg)	ZNF816, ZNF816-ZNF321P (C346R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536041	NM_001202457.3(ZNF816):c.529A>C (p.Ser177Arg)	ZNF816, ZNF816-ZNF321P (S177R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492278	NM_001202457.3(ZNF816):c.1919A>C (p.Gln640Pro)	ZNF816, ZNF816-ZNF321P (Q640P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482485	NM_001202457.3(ZNF816):c.1106A>G (p.Tyr369Cys)	ZNF816, ZNF816-ZNF321P (Y369C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477441	NM_001202457.3(ZNF816):c.1775C>G (p.Pro592Arg)	ZNF816, ZNF816-ZNF321P (P592R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396985	NM_001202457.3(ZNF816):c.707A>G (p.Lys236Arg)	ZNF816, ZNF816-ZNF321P (K236R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389064	NM_001202457.3(ZNF816):c.1223G>A (p.Arg408His)	ZNF816, ZNF816-ZNF321P (R408H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385903	NM_001202457.3(ZNF816):c.1519A>C (p.Lys507Gln)	ZNF816, ZNF816-ZNF321P (K507Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379611	NM_001202457.3(ZNF816):c.803A>G (p.Gln268Arg)	ZNF816, ZNF816-ZNF321P (Q268R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369099	NM_001202457.3(ZNF816):c.1937G>A (p.Arg646Lys)	ZNF816, ZNF816-ZNF321P (R646K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358628	NM_001202457.3(ZNF816):c.994C>T (p.Arg332Cys)	ZNF816, ZNF816-ZNF321P (R332C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2329230	NM_001202457.3(ZNF816):c.405G>C (p.Leu135Phe)	ZNF816, ZNF816-ZNF321P (L135F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326041	NM_001202457.3(ZNF816):c.1094G>A (p.Gly365Glu)	ZNF816, ZNF816-ZNF321P (G365E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323603	NM_001202457.3(ZNF816):c.581G>A (p.Arg194Lys)	ZNF816, ZNF816-ZNF321P (R194K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305402	NM_001202457.3(ZNF816):c.1475G>A (p.Arg492Gln)	ZNF816, ZNF816-ZNF321P (R492Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288960	NM_001202457.3(ZNF816):c.1733G>C (p.Gly578Ala)	ZNF816, ZNF816-ZNF321P (G578A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2246570	NM_001202457.3(ZNF816):c.1537G>A (p.Glu513Lys)	ZNF816, ZNF816-ZNF321P (E513K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773362	NM_001202457.3(ZNF816):c.941A>G (p.Lys314Arg)	ZNF816, ZNF816-ZNF321P (K314R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 773361	NM_001202457.3(ZNF816):c.1498C>G (p.His500Asp)	ZNF816, ZNF816-ZNF321P (H500D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 732130	NM_001202457.3(ZNF816):c.658C>T (p.Gln220Ter)	ZNF816, ZNF816-ZNF321P (Q220*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign

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Links from Gene

Items: 50