ClinVar for Gene (Select 9668) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2608763	NM_014650.4(ZNF432):c.1646G>A (p.Gly549Asp)	ZNF432 (G549D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594772	NM_014650.4(ZNF432):c.1308A>C (p.Lys436Asn)	ZNF432 (K436N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570443	NM_014650.4(ZNF432):c.1010G>A (p.Arg337Gln)	ZNF432 (R337Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568748	NM_014650.4(ZNF432):c.166G>T (p.Ala56Ser)	ZNF432 (A56S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558940	NM_014650.4(ZNF432):c.1850G>A (p.Arg617Gln)	ZNF432 (R617Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548077	NM_014650.4(ZNF432):c.1840G>C (p.Val614Leu)	ZNF432 (V614L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538161	NM_014650.4(ZNF432):c.185G>A (p.Arg62Gln)	ZNF432 (R62Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2536455	NM_014650.4(ZNF432):c.763C>T (p.His255Tyr)	ZNF432 (H255Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512925	NM_014650.4(ZNF432):c.374A>G (p.Glu125Gly)	ZNF432 (E125G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491585	NM_014650.4(ZNF432):c.1198C>A (p.Pro400Thr)	ZNF432 (P400T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454938	NM_014650.4(ZNF432):c.889G>C (p.Gly297Arg)	ZNF432 (G297R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454485	NM_014650.4(ZNF432):c.1430G>A (p.Arg477Gln)	ZNF432 (R477Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386477	NM_014650.4(ZNF432):c.323A>G (p.Asn108Ser)	ZNF432 (N108S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370603	NM_014650.4(ZNF432):c.842G>A (p.Arg281Gln)	ZNF432 (R281Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368519	NM_014650.4(ZNF432):c.298A>G (p.Ser100Gly)	ZNF432 (S100G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2360280	NM_014650.4(ZNF432):c.101G>A (p.Arg34Gln)	ZNF432 (R34Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353603	NM_014650.4(ZNF432):c.100C>T (p.Arg34Trp)	ZNF432 (R34W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339528	NM_014650.4(ZNF432):c.318A>C (p.Glu106Asp)	ZNF432 (E106D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333619	NM_014650.4(ZNF432):c.612C>G (p.Asn204Lys)	ZNF432 (N204K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323679	NM_014650.4(ZNF432):c.1346G>A (p.Arg449Gln)	ZNF432 (R449Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279957	NM_014650.4(ZNF432):c.899G>A (p.Gly300Asp)	ZNF432 (G300D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269222	NM_014650.4(ZNF432):c.1681C>G (p.Gln561Glu)	ZNF432 (Q561E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269221	NM_014650.4(ZNF432):c.1666C>G (p.Leu556Val)	ZNF432 (L556V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253741	NM_014650.4(ZNF432):c.1181C>T (p.Thr394Ile)	ZNF432 (T394I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227383	NM_014650.4(ZNF432):c.1900T>A (p.Phe634Ile)	ZNF432 (F634I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216776	NM_014650.4(ZNF432):c.1163T>C (p.Met388Thr)	ZNF432 (M388T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 777533	NM_014650.4(ZNF432):c.1598G>A (p.Arg533Gln)	ZNF432 (R533Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +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	MIR498, MIR512-1 +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	LOC113939975, LOC116286194 +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +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	LOC130065070, LOC130065071 +761 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 54