PAK6[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58352	GRCh38/hg38 15q14-15.1(chr15:39710935-40294591)x3	ANKRD63, BMF +47 more	Copy number gain	See cases	GUncertain significance
Select item 817359	NM_001211.6(BUB1B):c.2869del (p.Ala957fs)	BUB1B, BUB1B-PAK6 +1 more (A957fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2240516	NM_001395430.1(PAK6):c.8G>T (p.Arg3Leu)	BUB1B-PAK6, PAK6 (R3L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598797	NM_001395430.1(PAK6):c.113C>G (p.Pro38Arg)	BUB1B-PAK6, PAK6 (P38R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409673	NM_001395430.1(PAK6):c.113C>A (p.Pro38Gln)	BUB1B-PAK6, PAK6 (P38Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315219	NM_001395430.1(PAK6):c.149C>T (p.Pro50Leu)	PAK6, BUB1B-PAK6 (P50L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491289	NM_001395430.1(PAK6):c.167C>T (p.Pro56Leu)	BUB1B-PAK6, PAK6 (P56L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217983	NM_001395430.1(PAK6):c.248C>T (p.Ser83Leu)	BUB1B-PAK6, PAK6 (S83L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357083	NM_001395430.1(PAK6):c.262G>A (p.Asp88Asn)	PAK6, BUB1B-PAK6 (D88N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589083	NM_001395430.1(PAK6):c.325C>T (p.Arg109Trp)	BUB1B-PAK6, PAK6 (R109W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368690	NM_001395430.1(PAK6):c.373G>A (p.Asp125Asn)	PAK6, BUB1B-PAK6 (D125N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361847	NM_001395430.1(PAK6):c.467A>G (p.Lys156Arg)	PAK6, BUB1B-PAK6 (K156R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2456787	NM_001395430.1(PAK6):c.484G>A (p.Glu162Lys)	BUB1B-PAK6, PAK6 (E162K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374486	NM_001395430.1(PAK6):c.499C>T (p.Arg167Trp)	PAK6, BUB1B-PAK6 (R167W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540596	NM_001395430.1(PAK6):c.520G>A (p.Ala174Thr)	BUB1B-PAK6, PAK6 (A174T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385650	NM_001395430.1(PAK6):c.563C>G (p.Ala188Gly)	PAK6, BUB1B-PAK6 (A188G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550417	NM_001395430.1(PAK6):c.566C>T (p.Ser189Leu)	BUB1B-PAK6, PAK6 (S189L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789069	NM_001395430.1(PAK6):c.569A>G (p.Gln190Arg)	BUB1B-PAK6, PAK6 (Q190R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782719	NM_001395430.1(PAK6):c.572G>A (p.Arg191His)	BUB1B-PAK6, PAK6 (R191H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789070	NM_001395430.1(PAK6):c.593G>A (p.Cys198Tyr)	BUB1B-PAK6, PAK6 (C198Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2344877	NM_001395430.1(PAK6):c.610C>G (p.Pro204Ala)	PAK6, BUB1B-PAK6 (P204A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263982	NM_001395430.1(PAK6):c.614G>C (p.Gly205Ala)	PAK6, BUB1B-PAK6 (G205A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 769410	NM_001395430.1(PAK6):c.622C>A (p.Pro208Thr)	BUB1B-PAK6, PAK6 (P208T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2523878	NM_001395430.1(PAK6):c.625C>G (p.Pro209Ala)	BUB1B-PAK6, PAK6 (P209A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602264	NM_001395430.1(PAK6):c.682C>T (p.Arg228Trp)	BUB1B-PAK6, PAK6 (R228W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589069	NM_001395430.1(PAK6):c.772C>T (p.Arg258Cys)	BUB1B-PAK6, PAK6 (R258C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238809	NM_001395430.1(PAK6):c.842C>T (p.Pro281Leu)	BUB1B-PAK6, PAK6 (P281L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238938	NM_001395430.1(PAK6):c.939G>C (p.Gln313His)	BUB1B-PAK6, PAK6 (Q313H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456541	NM_001395430.1(PAK6):c.1057C>T (p.Arg353Cys)	BUB1B-PAK6, PAK6 (R353C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284575	NM_001395430.1(PAK6):c.1109C>T (p.Pro370Leu)	PAK6, BUB1B-PAK6 (P370L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613842	NM_001395430.1(PAK6):c.1124G>A (p.Gly375Asp)	BUB1B-PAK6, PAK6 (G375D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596655	NM_001395430.1(PAK6):c.1273C>T (p.Arg425Trp)	BUB1B-PAK6, PAK6 (R425W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467417	NM_001395430.1(PAK6):c.1291C>T (p.Arg431Cys)	BUB1B-PAK6, PAK6 (R431C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313120	NM_001395430.1(PAK6):c.1303G>A (p.Val435Ile)	BUB1B-PAK6, PAK6 (V435I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352349	NM_001395430.1(PAK6):c.1455G>T (p.Gln485His)	BUB1B-PAK6, PAK6 (Q485H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519654	NM_001395430.1(PAK6):c.1606C>T (p.Leu536Phe)	BUB1B-PAK6, PAK6 (L536F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401270	NM_001395430.1(PAK6):c.1609G>A (p.Asp537Asn)	PAK6, BUB1B-PAK6 (D537N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475765	NM_001395430.1(PAK6):c.1811A>T (p.Asp604Val)	BUB1B-PAK6, PAK6 (D604V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 545133	NM_001395430.1(PAK6):c.1855C>A (p.Pro619Thr)	BUB1B-PAK6, PAK6 (P619T)	Single nucleotide variant (missense variant +1 more)	Keratoconus	GUncertain significance
Select item 2526548	NM_001395430.1(PAK6):c.1868A>G (p.Asn623Ser)	BUB1B-PAK6, PAK6 (N623S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 1526444	GRCh37/hg19 15q15.1(chr15:40132892-40511958)	BMF, BUB1B +4 more	Copy number gain	not specified	GUncertain significance
Select item 1410342	NC_000015.9:g.(?_40453422)_(40512960_?)dup	BUB1B, PAK6	Duplication	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980032	GRCh37/hg19 15q15.1(chr15:40464942-41196807)x4	DISP2, C15orf62 +23 more	Copy number gain	not provided	GUncertain significance
Select item 815705	GRCh37/hg19 15q15.1(chr15:40499508-40566902)x1	BUB1B, PAK6-AS1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
Select item 564194	GRCh37/hg19 15q14-15.1(chr15:38170429-40775075)x1	THBS1, EIF2AK4 +22 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic

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Items: 52