ClinVar for Gene (Select 284370) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258928	NM_001199324.2(ZNF615):c.1177A>T (p.Thr393Ser)	ZNF615 (T389S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258927	NM_001199324.2(ZNF615):c.736A>T (p.Ser246Cys)	ZNF615 (S235C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258926	NM_001199324.2(ZNF615):c.1411G>A (p.Glu471Lys)	ZNF615 (E460K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258925	NM_001199324.2(ZNF615):c.2209C>T (p.His737Tyr)	ZNF615 (H737Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258924	NM_001199324.2(ZNF615):c.641C>T (p.Ala214Val)	ZNF615 (A219V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258923	NM_001199324.2(ZNF615):c.1708C>T (p.Arg570Trp)	ZNF615 (R564W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258922	NM_001199324.2(ZNF615):c.1327G>A (p.Glu443Lys)	ZNF615 (E437K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258920	NM_001199324.2(ZNF615):c.1628G>A (p.Arg543Gln)	ZNF615 (R532Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197214	NM_001199324.2(ZNF615):c.28C>G (p.Leu10Val)	ZNF615 (L15V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197213	NM_001199324.2(ZNF615):c.1964G>A (p.Arg655Gln)	ZNF615 (R644Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197212	NM_001199324.2(ZNF615):c.1610G>A (p.Arg537Gln)	ZNF615 (R531Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197211	NM_001199324.2(ZNF615):c.1460G>A (p.Arg487Gln)	ZNF615 (R476Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197210	NM_001199324.2(ZNF615):c.1120C>T (p.His374Tyr)	ZNF615 (H368Y +4 more)	Single nucleotide variant (missense variant)	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 2613449	NM_001199324.2(ZNF615):c.807A>C (p.Lys269Asn)	ZNF615 (K258N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607139	NM_001199324.2(ZNF615):c.1958A>T (p.His653Leu)	ZNF615 (H649L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595507	NM_001199324.2(ZNF615):c.1526G>A (p.Arg509His)	ZNF615 (R498H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592354	NM_001199324.2(ZNF615):c.1152A>G (p.Ile384Met)	ZNF615 (I380M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589569	NM_001199324.2(ZNF615):c.1009T>G (p.Ser337Ala)	ZNF615 (S331A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554317	NM_001199324.2(ZNF615):c.1913A>T (p.Asn638Ile)	ZNF615 (N638I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550523	NM_001199324.2(ZNF615):c.652A>C (p.Ser218Arg)	ZNF615 (S207R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541960	NM_001199324.2(ZNF615):c.1150A>G (p.Ile384Val)	ZNF615 (I373V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523983	NM_001199324.2(ZNF615):c.1466A>G (p.His489Arg)	ZNF615 (H483R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484164	NM_001199324.2(ZNF615):c.305A>T (p.His102Leu)	ZNF615 (H102L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478017	NM_001199324.2(ZNF615):c.2135A>G (p.Lys712Arg)	ZNF615 (K701R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467524	NM_001199324.2(ZNF615):c.989G>A (p.Ser330Asn)	ZNF615 (S319N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390322	NM_001199324.2(ZNF615):c.1082G>A (p.Gly361Glu)	ZNF615 (G350E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390282	NM_001199324.2(ZNF615):c.920C>G (p.Ala307Gly)	ZNF615 (A301G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378829	NM_001199324.2(ZNF615):c.2188C>T (p.His730Tyr)	ZNF615 (H726Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377123	NM_001199324.2(ZNF615):c.623C>T (p.Thr208Ile)	ZNF615 (T202I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348739	NM_001199324.2(ZNF615):c.956G>A (p.Arg319Gln)	ZNF615 (R315Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328443	NM_001199324.2(ZNF615):c.1408A>C (p.Thr470Pro)	ZNF615 (T466P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297256	NM_001199324.2(ZNF615):c.2099T>C (p.Phe700Ser)	ZNF615 (F689S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297190	NM_001199324.2(ZNF615):c.106G>A (p.Val36Met)	ZNF615 (V32M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264984	NM_001199324.2(ZNF615):c.494A>G (p.Asn165Ser)	ZNF615 (N170S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249695	NM_001199324.2(ZNF615):c.1177A>G (p.Thr393Ala)	ZNF615 (T382A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241914	NM_001199324.2(ZNF615):c.1567T>C (p.Tyr523His)	ZNF615 (Y523H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224406	NM_001199324.2(ZNF615):c.2013C>A (p.Phe671Leu)	ZNF615 (F660L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222482	NM_001199324.2(ZNF615):c.1376G>A (p.Arg459Gln)	ZNF615 (R464Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205576	NM_001199324.2(ZNF615):c.1882A>C (p.Thr628Pro)	ZNF615 (T628P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
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 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 221886	GRCh37/hg19 19q13.41(chr19:52272131-52588718)x3	ZNF613, ZNF614 +8 more	Copy number gain	Premature ovarian failure	GBenign
Select item 157458	NM_001005738.1(FPR2):c.290_344331dup	FPR2, FPR3 +20 more	Duplication	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 155383	GRCh38/hg38 19q13.41(chr19:51202361-51993020)x3	C19orf84, CD33 +62 more	Copy number gain	See cases	GUncertain significance
Select item 154882	GRCh38/hg38 19q13.41(chr19:51785545-52075049)x3	FPR3, LOC126862921 +16 more	Copy number gain	See cases	GLikely benign
Select item 154637	GRCh38/hg38 19q13.41(chr19:51769103-52124150)x3	FPR2, FPR3 +20 more	Copy number gain	See cases	GBenign
Select item 147613	GRCh38/hg38 19q13.41(chr19:51865544-52113443)x3	LOC126862922, LOC126862923 +16 more	Copy number gain	See cases	GBenign
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 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 58803	GRCh38/hg38 19q13.41(chr19:51824349-52113443)x3	FPR3, LOC126862921 +18 more	Copy number gain	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: 60