Related gene-specific medical variations for Gene (Select 535) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361577	NM_001130021.3(ATP6V0A1):c.1355T>G (p.Leu452Trp)	ATP6V0A1 (L381W +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342258	NM_001130021.3(ATP6V0A1):c.287A>T (p.Asp96Val)	ATP6V0A1 (D36V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 104 +1 more	GUncertain significance
Select item 3068292	NM_001130021.3(ATP6V0A1):c.118-2A>G	ATP6V0A1	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy 104	GLikely pathogenic
Select item 3065920	NM_001130021.3(ATP6V0A1):c.2492G>A (p.Arg831Gln)	ATP6V0A1 (G732R +28 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 104	GUncertain significance
Select item 3065213	NM_001130021.3(ATP6V0A1):c.1949T>C (p.Met650Thr)	ATP6V0A1 (M568T +10 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 104	GUncertain significance
Select item 1679785	NM_001130021.3(ATP6V0A1):c.1470-6T>C	ATP6V0A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 691414	NM_001130021.3(ATP6V0A1):c.1340G>A (p.Arg447Gln)	ATP6V0A1 (R447Q +9 more)	Single nucleotide variant (missense variant +1 more)	Esophageal atresia +1 more	GUncertain significance
Select item 161630	NM_001130021.3(ATP6V0A1):c.1023+1G>T	ATP6V0A1	Single nucleotide variant (splice donor variant +1 more)	Malignant tumor of prostate	GUncertain significance