ClinVar for MedGen (Select 1823957) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377270	NM_001130021.3(ATP6V0A1):c.118-1del	ATP6V0A1	Deletion (splice acceptor variant)	Neurodevelopmental disorder with epilepsy and brain atrophy	GLikely pathogenic
Select item 3377259	NM_001130021.3(ATP6V0A1):c.1023G>A (p.Thr341=)	ATP6V0A1	Single nucleotide variant (synonymous variant +1 more)	Neurodevelopmental disorder with epilepsy and brain atrophy	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 1698405	NM_001130021.3(ATP6V0A1):c.445del (p.Glu149fs)	ATP6V0A1 (E106fs +5 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with epilepsy and brain atrophy	GPathogenic
Select item 1698403	NM_001130021.3(ATP6V0A1):c.2411G>A (p.Arg804His)	ATP6V0A1 (R722H +21 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 104 +1 more	GPathogenic
Select item 1698400	NM_001130021.3(ATP6V0A1):c.196+1G>A	ATP6V0A1	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with epilepsy and brain atrophy	GPathogenic
Select item 1698399	NM_001130021.3(ATP6V0A1):c.1579A>G (p.Asn527Asp)	ATP6V0A1 (N534D +10 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with epilepsy and brain atrophy	GPathogenic
Select item 1698398	NC_000017.10:g.40599557_40649783del	ATP6V0A1	Deletion	Neurodevelopmental disorder with epilepsy and brain atrophy	GPathogenic
Select item 1698397	NM_001130021.3(ATP6V0A1):c.1513G>C (p.Ala505Pro)	ATP6V0A1 (A512P +9 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with epilepsy and brain atrophy	GPathogenic