Related gene-specific medical variations for Gene (Select 56924) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3208091	NM_001395430.1(PAK6):c.-117-384C>A	BUB1B-PAK6, PAK6 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3208090	NM_001395430.1(PAK6):c.-117-446C>T	BUB1B-PAK6, PAK6 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3208089	NM_001395430.1(PAK6):c.-117-432C>A	BUB1B-PAK6, PAK6 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3208088	NM_001395430.1(PAK6):c.946G>A (p.Gly316Arg)	BUB1B-PAK6, PAK6 (G316R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208087	NM_001395430.1(PAK6):c.713C>T (p.Thr238Ile)	BUB1B-PAK6, PAK6 (T238I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208086	NM_001395430.1(PAK6):c.41C>T (p.Ala14Val)	BUB1B-PAK6, PAK6 (A14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208085	NM_001395430.1(PAK6):c.410G>A (p.Arg137His)	BUB1B-PAK6, PAK6 (R137H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208084	NM_001395430.1(PAK6):c.40G>C (p.Ala14Pro)	BUB1B-PAK6, PAK6 (A14P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208083	NM_001395430.1(PAK6):c.26G>A (p.Arg9His)	BUB1B-PAK6, PAK6 (R9H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208082	NM_001395430.1(PAK6):c.215G>A (p.Arg72Gln)	BUB1B-PAK6, PAK6 (R72Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208081	NM_001395430.1(PAK6):c.1985G>A (p.Gly662Glu)	BUB1B-PAK6, PAK6 (G662E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208080	NM_001395430.1(PAK6):c.1951G>A (p.Glu651Lys)	BUB1B-PAK6, PAK6 (E651K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208079	NM_001395430.1(PAK6):c.1853C>A (p.Pro618Gln)	BUB1B-PAK6, PAK6 (P618Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208078	NM_001395430.1(PAK6):c.157G>A (p.Val53Met)	BUB1B-PAK6, PAK6 (V53M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208077	NM_001395430.1(PAK6):c.1306A>G (p.Lys436Glu)	BUB1B-PAK6, PAK6 (K436E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208076	NM_001395430.1(PAK6):c.1292G>T (p.Arg431Leu)	BUB1B-PAK6, PAK6 (R431L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208075	NM_001395430.1(PAK6):c.1069G>A (p.Ala357Thr)	BUB1B-PAK6, PAK6 (A357T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613842	NM_001395430.1(PAK6):c.1124G>A (p.Gly375Asp)	BUB1B-PAK6, PAK6 (G375D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602264	NM_001395430.1(PAK6):c.682C>T (p.Arg228Trp)	BUB1B-PAK6, PAK6 (R228W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598797	NM_001395430.1(PAK6):c.113C>G (p.Pro38Arg)	BUB1B-PAK6, PAK6 (P38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596655	NM_001395430.1(PAK6):c.1273C>T (p.Arg425Trp)	BUB1B-PAK6, PAK6 (R425W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589083	NM_001395430.1(PAK6):c.325C>T (p.Arg109Trp)	BUB1B-PAK6, PAK6 (R109W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589069	NM_001395430.1(PAK6):c.772C>T (p.Arg258Cys)	BUB1B-PAK6, PAK6 (R258C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550417	NM_001395430.1(PAK6):c.566C>T (p.Ser189Leu)	BUB1B-PAK6, PAK6 (S189L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540596	NM_001395430.1(PAK6):c.520G>A (p.Ala174Thr)	BUB1B-PAK6, PAK6 (A174T)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2523878	NM_001395430.1(PAK6):c.625C>G (p.Pro209Ala)	BUB1B-PAK6, PAK6 (P209A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519654	NM_001395430.1(PAK6):c.1606C>T (p.Leu536Phe)	BUB1B-PAK6, PAK6 (L536F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491289	NM_001395430.1(PAK6):c.167C>T (p.Pro56Leu)	BUB1B-PAK6, PAK6 (P56L)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2467417	NM_001395430.1(PAK6):c.1291C>T (p.Arg431Cys)	BUB1B-PAK6, PAK6 (R431C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456787	NM_001395430.1(PAK6):c.484G>A (p.Glu162Lys)	BUB1B-PAK6, PAK6 (E162K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456541	NM_001395430.1(PAK6):c.1057C>T (p.Arg353Cys)	BUB1B-PAK6, PAK6 (R353C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409673	NM_001395430.1(PAK6):c.113C>A (p.Pro38Gln)	BUB1B-PAK6, PAK6 (P38Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401270	NM_001395430.1(PAK6):c.1609G>A (p.Asp537Asn)	BUB1B-PAK6, PAK6 (D537N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385650	NM_001395430.1(PAK6):c.563C>G (p.Ala188Gly)	BUB1B-PAK6, PAK6 (A188G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374486	NM_001395430.1(PAK6):c.499C>T (p.Arg167Trp)	BUB1B-PAK6, PAK6 (R167W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368690	NM_001395430.1(PAK6):c.373G>A (p.Asp125Asn)	BUB1B-PAK6, PAK6 (D125N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361847	NM_001395430.1(PAK6):c.467A>G (p.Lys156Arg)	BUB1B-PAK6, PAK6 (K156R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2357083	NM_001395430.1(PAK6):c.262G>A (p.Asp88Asn)	BUB1B-PAK6, PAK6 (D88N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352349	NM_001395430.1(PAK6):c.1455G>T (p.Gln485His)	BUB1B-PAK6, PAK6 (Q485H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344877	NM_001395430.1(PAK6):c.610C>G (p.Pro204Ala)	BUB1B-PAK6, PAK6 (P204A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315219	NM_001395430.1(PAK6):c.149C>T (p.Pro50Leu)	BUB1B-PAK6, PAK6 (P50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313120	NM_001395430.1(PAK6):c.1303G>A (p.Val435Ile)	BUB1B-PAK6, PAK6 (V435I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284575	NM_001395430.1(PAK6):c.1109C>T (p.Pro370Leu)	BUB1B-PAK6, PAK6 (P370L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263982	NM_001395430.1(PAK6):c.614G>C (p.Gly205Ala)	BUB1B-PAK6, PAK6 (G205A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240516	NM_001395430.1(PAK6):c.8G>T (p.Arg3Leu)	BUB1B-PAK6, PAK6 (R3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238938	NM_001395430.1(PAK6):c.939G>C (p.Gln313His)	BUB1B-PAK6, PAK6 (Q313H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238809	NM_001395430.1(PAK6):c.842C>T (p.Pro281Leu)	BUB1B-PAK6, PAK6 (P281L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217983	NM_001395430.1(PAK6):c.248C>T (p.Ser83Leu)	BUB1B-PAK6, PAK6 (S83L)	Single nucleotide variant (missense variant)	not specified	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 789070	NM_001395430.1(PAK6):c.593G>A (p.Cys198Tyr)	BUB1B-PAK6, PAK6 (C198Y)	Single nucleotide variant (missense variant)	not provided	GBenign
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 769410	NM_001395430.1(PAK6):c.622C>A (p.Pro208Thr)	BUB1B-PAK6, PAK6 (P208T)	Single nucleotide variant (missense variant)	not provided	GBenign
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

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Links from Gene

Items: 56