Related gene-specific medical variations for Gene (Select 92552) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3132261	NM_001135995.2(ATXN3L):c.565C>T (p.Pro189Ser)	ATXN3L, GS1-600G8.3 (P101S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3132260	NM_001135995.2(ATXN3L):c.404C>T (p.Ser135Phe)	ATXN3L, GS1-600G8.3 (S135F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132259	NM_001135995.2(ATXN3L):c.364A>G (p.Thr122Ala)	ATXN3L, GS1-600G8.3 (T122A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2660023	NM_001135995.2(ATXN3L):c.763A>G (p.Met255Val)	ATXN3L, GS1-600G8.3 (M167V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2660022	NM_001135995.2(ATXN3L):c.947C>T (p.Thr316Ile)	ATXN3L, GS1-600G8.3 (T228I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2660021	NM_001135995.2(ATXN3L):c.941CAA[2] (p.Thr316del)	ATXN3L, GS1-600G8.3 (T228del +1 more)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2471587	NM_001135995.2(ATXN3L):c.194C>A (p.Pro65His)	ATXN3L, GS1-600G8.3 (P65H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2464449	NM_001135995.2(ATXN3L):c.307G>A (p.Gly103Ser)	ATXN3L, GS1-600G8.3 (G103S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2394450	NM_001135995.2(ATXN3L):c.528A>T (p.Gln176His)	ATXN3L, GS1-600G8.3 (Q176H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2317696	NM_001135995.2(ATXN3L):c.835C>T (p.Pro279Ser)	ATXN3L, GS1-600G8.3 (P191S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2292841	NM_001135995.2(ATXN3L):c.778G>A (p.Gly260Arg)	ATXN3L, GS1-600G8.3 (G172R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2280114	NM_001135995.2(ATXN3L):c.200A>G (p.Glu67Gly)	ATXN3L, GS1-600G8.3 (E67G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2240271	NM_001135995.2(ATXN3L):c.47A>G (p.Gln16Arg)	ATXN3L, GS1-600G8.3 (Q16R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2217633	NM_001135995.2(ATXN3L):c.695C>T (p.Ala232Val)	ATXN3L, GS1-600G8.3 (A232V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2212147	NM_001135995.2(ATXN3L):c.298C>G (p.Gln100Glu)	ATXN3L, GS1-600G8.3 (Q100E)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2204361	NM_001135995.2(ATXN3L):c.113A>C (p.His38Pro)	ATXN3L, GS1-600G8.3 (H38P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 973116	NM_001135995.2(ATXN3L):c.865A>T (p.Lys289Ter)	ATXN3L, GS1-600G8.3 (K289* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual disability	GLikely benign