80714[Gene ID] - ClinVar

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Items: 47

	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 3304516	NM_025245.3(PBX4):c.1115C>T (p.Thr372Ile)	PBX4 (T372I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304511	NM_025245.3(PBX4):c.1111A>G (p.Ser371Gly)	PBX4 (S371G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304509	NM_025245.3(PBX4):c.1020C>G (p.Cys340Trp)	PBX4 (C340W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209033	NM_025245.3(PBX4):c.1012G>A (p.Gly338Arg)	PBX4 (G338R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209039	NM_025245.3(PBX4):c.953G>A (p.Ser318Asn)	PBX4 (S318N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595139	NM_025245.3(PBX4):c.897C>A (p.His299Gln)	PBX4 (H299Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2412416	NM_025245.3(PBX4):c.872C>T (p.Thr291Met)	PBX4 (T291M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304514	NM_025245.3(PBX4):c.868A>T (p.Thr290Ser)	PBX4 (T290S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255158	NM_025245.3(PBX4):c.862G>A (p.Val288Met)	PBX4 (V288M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556552	NM_025245.3(PBX4):c.857C>T (p.Thr286Met)	PBX4 (T286M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304515	NM_025245.3(PBX4):c.799C>T (p.Arg267Trp)	PBX4 (R267W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365135	NM_025245.3(PBX4):c.754C>T (p.Leu252Phe)	PBX4 (L252F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234288	NM_025245.3(PBX4):c.734A>G (p.Glu245Gly)	PBX4 (E245G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474412	NM_025245.3(PBX4):c.724G>T (p.Ala242Ser)	PBX4 (A242S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263451	NM_025245.3(PBX4):c.706C>A (p.Pro236Thr)	PBX4 (P236T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514068	NM_025245.3(PBX4):c.662C>T (p.Ala221Val)	PBX4 (A221V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485785	NM_025245.3(PBX4):c.640C>T (p.Arg214Trp)	PBX4 (R214W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221120	NM_025245.3(PBX4):c.638A>G (p.Lys213Arg)	PBX4 (K213R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368971	NM_025245.3(PBX4):c.611G>A (p.Arg204His)	PBX4 (R204H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304510	NM_025245.3(PBX4):c.599T>C (p.Val200Ala)	PBX4 (V200A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464766	NM_025245.3(PBX4):c.559G>A (p.Ala187Thr)	PBX4 (A187T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304517	NM_025245.3(PBX4):c.558C>A (p.Ser186Arg)	PBX4 (S186R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304508	NM_025245.3(PBX4):c.527G>A (p.Arg176His)	PBX4 (R176H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2377494	NM_025245.3(PBX4):c.473A>G (p.Asn158Ser)	PBX4 (N158S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465786	NM_025245.3(PBX4):c.448C>T (p.Arg150Cys)	PBX4 (R150C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209036	NM_025245.3(PBX4):c.373T>C (p.Ser125Pro)	PBX4 (S125P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243284	NM_025245.3(PBX4):c.283A>G (p.Arg95Gly)	PBX4 (R95G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350208	NM_025245.3(PBX4):c.277G>A (p.Val93Met)	PBX4 (V93M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514168	NM_025245.3(PBX4):c.211A>G (p.Ile71Val)	PBX4 (I71V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222548	NM_025245.3(PBX4):c.205C>T (p.Arg69Cys)	PBX4 (R69C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229508	NM_025245.3(PBX4):c.157C>G (p.Leu53Val)	PBX4 (L53V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304513	NM_025245.3(PBX4):c.142C>T (p.Arg48Trp)	PBX4 (R48W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209038	NM_025245.3(PBX4):c.79A>C (p.Met27Leu)	LOC130064083, PBX4 (M27L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209037	NM_025245.3(PBX4):c.41C>G (p.Pro14Arg)	LOC130064083, PBX4 (P14R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209034	NM_025245.3(PBX4):c.10C>G (p.Pro4Ala)	LOC130064083, PBX4 (P4A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	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 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 688889	GRCh37/hg19 19p13.11(chr19:19560981-19962412)x3	ATP13A1, CILP2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 687397	GRCh37/hg19 19p13.11(chr19:19709006-19793143)x1	ATP13A1, GMIP +3 more	Copy number loss	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +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

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Items: 47