"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "APTX"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 136416	NM_001195248.2(APTX):c.971A>T (p.Gln324Leu)	APTX (Q324L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 559301	NM_001195248.2(APTX):c.548A>G (p.Tyr183Cys)	APTX (Y183C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 290890	NM_001195248.2(APTX):c.484-25_484-3del	APTX	Deletion (intron variant)	not specified +1 more	GLikely benign
Select item 218539	NM_001195248.2(APTX):c.484-3del	APTX	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 518398	NM_001195248.2(APTX):c.484-25_484-4del	APTX	Deletion (intron variant)	not specified +2 more	GBenign
Select item 198285	NM_001195248.2(APTX):c.484-25_484-5del	APTX	Deletion (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +4 more	GBenign/Likely benign
Select item 559304	NM_001195248.2(APTX):c.484-25_484-6del	APTX	Deletion (intron variant)	not provided +1 more	GBenign
Select item 136414	NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr)	APTX (S144Y +2 more)	Single nucleotide variant (missense variant +2 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +2 more	GBenign/Likely benign
Select item 3381048	NM_001195248.2(APTX):c.397_407dup (p.Gly137fs)	APTX (G137fs +2 more)	Duplication (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 136413	NM_001195248.2(APTX):c.318C>T (p.Asn106=)	APTX	Single nucleotide variant (synonymous variant +2 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +2 more	GBenign
Select item 1256342	NM_001195248.2(APTX):c.191A>G (p.Asn64Ser)	APTX (N64S)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3379856	NM_001195248.2(APTX):c.120T>G (p.Cys40Trp)	APTX (C40W)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 214126	NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)	APTX (W6C)	Single nucleotide variant (missense variant +2 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +4 more	GConflicting classifications of pathogenicity