ClinVar for Gene (Select 80110) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258919	NM_025040.4(ZNF614):c.1085A>G (p.Gln362Arg)	ZNF614 (Q362R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258918	NM_025040.4(ZNF614):c.450T>A (p.His150Gln)	ZNF614 (H150Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258917	NM_025040.4(ZNF614):c.538T>C (p.Ser180Pro)	ZNF614 (S180P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3258916	NM_025040.4(ZNF614):c.1171C>T (p.Arg391Cys)	ZNF614 (R391C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258915	NM_025040.4(ZNF614):c.752A>T (p.Lys251Ile)	ZNF614 (K251I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197209	NM_025040.4(ZNF614):c.974C>T (p.Thr325Ile)	ZNF614 (T325I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197208	NM_025040.4(ZNF614):c.845C>T (p.Thr282Ile)	ZNF614 (T282I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197207	NM_025040.4(ZNF614):c.794G>T (p.Arg265Ile)	ZNF614 (R265I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197206	NM_025040.4(ZNF614):c.755C>T (p.Thr252Ile)	ZNF614 (T252I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197205	NM_025040.4(ZNF614):c.518C>T (p.Thr173Met)	ZNF614 (T173M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3197204	NM_025040.4(ZNF614):c.426T>G (p.Ser142Arg)	ZNF614 (S142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197203	NM_025040.4(ZNF614):c.1702A>G (p.Ile568Val)	ZNF614 (I568V)	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 2621336	NM_025040.4(ZNF614):c.16G>A (p.Glu6Lys)	ZNF614 (E6K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604825	NM_025040.4(ZNF614):c.1034G>A (p.Cys345Tyr)	ZNF614 (C345Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602914	NM_025040.4(ZNF614):c.1052G>A (p.Gly351Asp)	ZNF614 (G351D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523363	NM_025040.4(ZNF614):c.1318C>T (p.Arg440Cys)	ZNF614 (R440C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479345	NM_025040.4(ZNF614):c.578T>C (p.Phe193Ser)	ZNF614 (F193S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470767	NM_025040.4(ZNF614):c.838A>T (p.Thr280Ser)	ZNF614 (T280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466613	NM_025040.4(ZNF614):c.281A>G (p.Asn94Ser)	ZNF614 (N94S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405436	NM_025040.4(ZNF614):c.1748C>T (p.Pro583Leu)	ZNF614 (P583L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400509	NM_025040.4(ZNF614):c.1459G>A (p.Glu487Lys)	ZNF614 (E487K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348826	NM_025040.4(ZNF614):c.1282A>G (p.Ile428Val)	ZNF614 (I428V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346073	NM_025040.4(ZNF614):c.166G>A (p.Val56Ile)	ZNF614 (V56I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345645	NM_025040.4(ZNF614):c.314A>G (p.Asn105Ser)	ZNF614 (N105S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2314190	NM_025040.4(ZNF614):c.782C>A (p.Pro261His)	ZNF614 (P261H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260880	NM_025040.4(ZNF614):c.1453T>C (p.Cys485Arg)	ZNF614 (C485R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233499	NM_025040.4(ZNF614):c.958T>C (p.Cys320Arg)	ZNF614 (C320R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231949	NM_025040.4(ZNF614):c.1032A>G (p.Ile344Met)	ZNF614 (I344M)	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 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

ClinVar

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Links from Gene

Items: 48