ClinVar for Gene (Select 80264) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335746	NM_025189.4(ZNF430):c.1037A>G (p.Lys346Arg)	ZNF430 (K346R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335745	NM_025189.4(ZNF430):c.982C>T (p.Arg328Trp)	ZNF430 (R327W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335744	NM_025189.4(ZNF430):c.160A>G (p.Thr54Ala)	ZNF430 (T54A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195706	NM_025189.4(ZNF430):c.916A>G (p.Thr306Ala)	ZNF430 (T306A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195705	NM_025189.4(ZNF430):c.499C>G (p.Gln167Glu)	ZNF430 (Q166E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195704	NM_025189.4(ZNF430):c.171G>C (p.Gln57His)	ZNF430 (Q57H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195703	NM_025189.4(ZNF430):c.1684T>C (p.Ser562Pro)	ZNF430 (S562P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195702	NM_025189.4(ZNF430):c.1639G>C (p.Gly547Arg)	ZNF430 (G546R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195701	NM_025189.4(ZNF430):c.1562C>G (p.Ala521Gly)	ZNF430 (A520G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195700	NM_025189.4(ZNF430):c.134C>T (p.Ser45Phe)	ZNF430 (S45F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195699	NM_025189.4(ZNF430):c.1271C>G (p.Thr424Ser)	ZNF430 (T424S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554897	NM_025189.4(ZNF430):c.1015C>T (p.His339Tyr)	ZNF430 (H338Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537574	NM_025189.4(ZNF430):c.799G>A (p.Gly267Ser)	ZNF430 (G267S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535610	NM_025189.4(ZNF430):c.1220G>T (p.Gly407Val)	ZNF430 (G406V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516455	NM_025189.4(ZNF430):c.317C>T (p.Pro106Leu)	ZNF430 (P105L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512311	NM_025189.4(ZNF430):c.1223A>T (p.Lys408Ile)	ZNF430 (K407I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477658	NM_025189.4(ZNF430):c.1231A>T (p.Asn411Tyr)	ZNF430 (N410Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399254	NM_025189.4(ZNF430):c.1233T>A (p.Asn411Lys)	ZNF430 (N411K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362506	NM_025189.4(ZNF430):c.1030C>A (p.Pro344Thr)	ZNF430 (P343T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358599	NM_025189.4(ZNF430):c.374A>G (p.Asp125Gly)	ZNF430 (D125G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343096	NM_025189.4(ZNF430):c.1403G>A (p.Arg468Gln)	ZNF430 (R468Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322922	NM_025189.4(ZNF430):c.1613A>G (p.Glu538Gly)	ZNF430 (E538G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317032	NM_025189.4(ZNF430):c.844A>T (p.Ile282Phe)	ZNF430 (I281F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308581	NM_025189.4(ZNF430):c.1190G>C (p.Gly397Ala)	ZNF430 (G397A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263940	NM_025189.4(ZNF430):c.1402C>T (p.Arg468Trp)	ZNF430 (R468W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248984	NM_025189.4(ZNF430):c.524A>G (p.Glu175Gly)	ZNF430 (E174G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242181	NM_025189.4(ZNF430):c.299A>G (p.His100Arg)	ZNF430 (H99R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808937	GRCh37/hg19 19p12(chr19:20258982-21235052)x3	ZNF430, ZNF486 +3 more	Copy number gain	not provided	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 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 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 155371	GRCh38/hg38 19p13.11-12(chr19:19767502-21093565)x1	ERVS71-1, LINC00663 +25 more	Copy number loss	See cases	GUncertain significance
Select item 155171	GRCh38/hg38 19p12(chr19:20577633-21096146)x3	LOC126862885, LOC130064096 +6 more	Copy number gain	See cases	GLikely benign
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 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
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 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 42