Related gene-specific medical variations for Gene (Select 2580) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280472	NM_005255.4(GAK):c.2653G>A (p.Gly885Ser)	GAK, LOC126806940 (G806S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280471	NM_005255.4(GAK):c.2561C>G (p.Ala854Gly)	GAK, LOC126806940 (A775G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280469	NM_005255.4(GAK):c.3004G>A (p.Ala1002Thr)	GAK, LOC126806940 (A1002T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097969	NM_005255.4(GAK):c.3004G>T (p.Ala1002Ser)	LOC126806940, GAK (A1002S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097968	NM_005255.4(GAK):c.2852G>A (p.Arg951Lys)	GAK, LOC126806940 (R872K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097967	NM_005255.4(GAK):c.2707G>T (p.Ala903Ser)	GAK, LOC126806940 (A824S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097966	NM_005255.4(GAK):c.2404G>A (p.Glu802Lys)	GAK, LOC126806940 (E723K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592443	NM_005255.4(GAK):c.2674G>A (p.Ala892Thr)	GAK, LOC126806940 (A892T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560201	NM_005255.4(GAK):c.2635G>C (p.Asp879His)	GAK, LOC126806940 (D800H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544493	NM_005255.4(GAK):c.2966C>T (p.Ser989Phe)	GAK, LOC126806940 (S910F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542988	NM_005255.4(GAK):c.2938C>A (p.Leu980Ile)	GAK, LOC126806940 (L901I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516149	NM_005255.4(GAK):c.2681C>T (p.Pro894Leu)	GAK, LOC126806940 (P894L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511647	NM_005255.4(GAK):c.2602C>G (p.Pro868Ala)	GAK, LOC126806940 (P868A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486602	NM_005255.4(GAK):c.2574G>T (p.Gln858His)	GAK, LOC126806940 (Q779H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459430	NM_005255.4(GAK):c.2899T>A (p.Ser967Thr)	GAK, LOC126806940 (S967T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406697	NM_005255.4(GAK):c.2536G>A (p.Asp846Asn)	GAK, LOC126806940 (D767N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399649	NM_005255.4(GAK):c.2947G>A (p.Glu983Lys)	GAK, LOC126806940 (E904K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380244	NM_005255.4(GAK):c.2869G>A (p.Ala957Thr)	GAK, LOC126806940 (A878T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378389	NM_005255.4(GAK):c.2848C>G (p.Pro950Ala)	GAK, LOC126806940 (P950A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346375	NM_005255.4(GAK):c.2725G>A (p.Asp909Asn)	GAK, LOC126806940 (D830N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261037	NM_005255.4(GAK):c.2897C>T (p.Pro966Leu)	GAK, LOC126806940 (P966L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2246060	NM_005255.4(GAK):c.2986T>C (p.Phe996Leu)	GAK, LOC126806940 (F917L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235863	NM_005255.4(GAK):c.2869G>C (p.Ala957Pro)	GAK, LOC126806940 (A957P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225595	NM_005255.4(GAK):c.2515G>A (p.Glu839Lys)	GAK, LOC126806940 (E760K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207514	NM_005255.4(GAK):c.2777C>A (p.Pro926Gln)	GAK, LOC126806940 (P847Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206707	NM_005255.4(GAK):c.2827C>G (p.Pro943Ala)	GAK, LOC126806940 (P943A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778843	NM_005255.4(GAK):c.2446G>A (p.Glu816Lys)	GAK, LOC126806940 (E737K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 754209	NM_005255.4(GAK):c.2535C>T (p.Ala845=)	GAK, LOC126806940	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Links from Gene

Items: 28