ZNF431[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 153725	GRCh38/hg38 19p12(chr19:20637987-21976216)x3	LINC00664, LOC105372321 +27 more	Copy number gain	See cases	GUncertain significance
Select item 148518	GRCh38/hg38 19p12(chr19:20859049-21165434)x1	LOC116276512, LOC126862886 +7 more	Copy number loss	See cases	GUncertain significance
Select item 3195709	NM_133473.4(ZNF431):c.16T>C (p.Tyr6His)	LOC126862886, ZNF431 (Y6H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2333860	NM_133473.4(ZNF431):c.35A>G (p.Lys12Arg)	LOC126862886, ZNF431 (K12R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3335752	NM_133473.4(ZNF431):c.73C>G (p.Leu25Val)	LOC126862886, ZNF431 (L25V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195708	NM_133473.4(ZNF431):c.169C>A (p.Gln57Lys)	ZNF431 (Q57K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3335748	NM_133473.4(ZNF431):c.224G>A (p.Gly75Asp)	ZNF431 (G76D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2284132	NM_133473.4(ZNF431):c.242A>G (p.Gln81Arg)	ZNF431 (Q82R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1337768	NM_133473.4(ZNF431):c.264G>A (p.Glu88=)	ZNF431	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3335750	NM_133473.4(ZNF431):c.355G>A (p.Glu119Lys)	ZNF431 (E119K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335747	NM_133473.4(ZNF431):c.404G>A (p.Gly135Asp)	ZNF431 (G135D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384774	NM_133473.4(ZNF431):c.418G>C (p.Glu140Gln)	ZNF431 (E141Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384775	NM_133473.4(ZNF431):c.440G>T (p.Gly147Val)	ZNF431 (G147V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335751	NM_133473.4(ZNF431):c.526T>C (p.Phe176Leu)	ZNF431 (F177L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597139	NM_133473.4(ZNF431):c.622A>G (p.Lys208Glu)	ZNF431 (K101E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195710	NM_133473.4(ZNF431):c.629G>A (p.Gly210Asp)	ZNF431 (G211D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1338686	NM_133473.4(ZNF431):c.641G>T (p.Cys214Phe)	ZNF431 (C107F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2325312	NM_133473.4(ZNF431):c.781A>C (p.Lys261Gln)	ZNF431 (K154Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335753	NM_133473.4(ZNF431):c.813G>C (p.Gln271His)	ZNF431 (Q272H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487941	NM_133473.4(ZNF431):c.928C>T (p.His310Tyr)	ZNF431 (H310Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195711	NM_133473.4(ZNF431):c.960A>T (p.Glu320Asp)	ZNF431 (E320D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286708	NM_133473.4(ZNF431):c.961T>A (p.Cys321Ser)	ZNF431 (C230S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195712	NM_133473.4(ZNF431):c.991C>T (p.Leu331Phe)	ZNF431 (L240F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 161801	NM_133473.4(ZNF431):c.1021G>A (p.Glu341Lys)	ZNF431 (E341K +3 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 2464658	NM_133473.4(ZNF431):c.1067T>G (p.Phe356Cys)	ZNF431 (F249C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370845	NM_133473.4(ZNF431):c.1082A>C (p.Lys361Thr)	ZNF431 (K362T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246785	NM_133473.4(ZNF431):c.1100C>A (p.Thr367Asn)	ZNF431 (T276N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235560	NM_133473.4(ZNF431):c.1360A>G (p.Lys454Glu)	ZNF431 (K363E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335749	NM_133473.4(ZNF431):c.1397G>A (p.Ser466Asn)	ZNF431 (S467N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211257	NM_133473.4(ZNF431):c.1421A>G (p.His474Arg)	ZNF431 (H383R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385036	NM_133473.4(ZNF431):c.1427G>A (p.Arg476Lys)	ZNF431 (R476K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1337981	NM_133473.4(ZNF431):c.1447C>A (p.Pro483Thr)	ZNF431 (P376T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2461038	NM_133473.4(ZNF431):c.1484G>A (p.Arg495Gln)	ZNF431 (R404Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292005	NM_133473.4(ZNF431):c.1661A>T (p.Asn554Ile)	ZNF431 (N554I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195707	NM_133473.4(ZNF431):c.1696A>G (p.Thr566Ala)	ZNF431 (T475A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403896	NM_133473.4(ZNF431):c.1715T>G (p.Met572Arg)	ZNF431 (M573R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1340965	GRCh37/hg19 19p12(chr19:21165166-21346267)x1	ZNF430, ZNF431 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1340826	GRCh37/hg19 19p12(chr19:21244254-21350697)x1	ZNF431, ZNF714	Copy number loss	not provided	GLikely benign
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 564603	GRCh37/hg19 19p13.11-12(chr19:19903805-21966609)x1	ZNF737, ZNF708 +14 more	Copy number loss	not provided	GUncertain significance
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 395114	GRCh37/hg19 19p12(chr19:21255363-21349259)x1	ZNF431, ZNF714	Copy number loss	See cases	GUncertain significance
Select item 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 48