ClinVar for Gene (Select 125893) - ClinVar

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Links from Gene

Items: 67

	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 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
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 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
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
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 58343	GRCh38/hg38 19q13.41-13.42(chr19:52707235-53192628)x1	ERVFRD-2, ERVV-1 +23 more	Copy number loss	See cases	GUncertain significance
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 67