Related gene-specific medical variations for Gene (Select 112939) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434019	NM_052876.4(NACC1):c.673G>C (p.Ala225Pro)	NACC1 (A225P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	GUncertain significance
Select item 2434018	NM_052876.4(NACC1):c.1414C>T (p.Arg472Cys)	NACC1 (R472C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	GUncertain significance
Select item 2434017	NM_052876.4(NACC1):c.947C>T (p.Ala316Val)	NACC1 (A316V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	GUncertain significance
Select item 1342358	NM_052876.4(NACC1):c.1042A>G (p.Ile348Val)	NACC1 (I348V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	GUncertain significance
Select item 931953	NM_052876.4(NACC1):c.1325-4A>C	NACC1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	GUncertain significance
Select item 931635	NM_052876.4(NACC1):c.1038A>C (p.Glu346Asp)	NACC1 (E346D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	GUncertain significance
Select item 931073	NM_052876.4(NACC1):c.1325-14A>C	NACC1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	GUncertain significance