C3554524[trait identifier] AND "Molecular Genetics of Human Eye Develo - ClinVar - NCBI

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

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1803003	NM_000693.4(ALDH1A3):c.100-2A>G	ALDH1A3	Single nucleotide variant (splice acceptor variant)	Isolated microphthalmia 8	GPathogenic
Select item 1802996	NM_000693.4(ALDH1A3):c.434C>T (p.Ala145Val)	ALDH1A3, ALDH1A3-AS1 (A145V)	Single nucleotide variant (non-coding transcript variant +2 more)	Isolated microphthalmia 8	GLikely pathogenic
Select item 1803002	NM_000693.4(ALDH1A3):c.566G>A (p.Trp189Ter)	ALDH1A3-AS1, ALDH1A3 (W189*)	Single nucleotide variant (non-coding transcript variant +2 more)	Isolated microphthalmia 8	GPathogenic
Select item 1803000	NM_000693.4(ALDH1A3):c.847_849del (p.Gly283del)	ALDH1A3, ALDH1A3-AS1 (G176del +1 more)	Deletion (inframe_deletion)	Isolated microphthalmia 8	GUncertain significance
Select item 1802998	NM_000693.4(ALDH1A3):c.845G>C (p.Gly282Ala)	ALDH1A3-AS1, ALDH1A3 (G175A +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 8 +1 more	GLikely pathogenic
Select item 1802994	NM_000693.4(ALDH1A3):c.874G>T (p.Asp292Tyr)	ALDH1A3, ALDH1A3-AS1 (D185Y +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 8	GUncertain significance
Select item 1803001	NM_000693.4(ALDH1A3):c.953C>A (p.Ser318Tyr)	ALDH1A3, ALDH1A3-AS1 (S211Y +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 8	GUncertain significance
Select item 1802995	NM_000693.4(ALDH1A3):c.1144G>A (p.Gly382Arg)	ALDH1A3, ALDH1A3-AS1 (G275R +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 8	GLikely pathogenic
Select item 1803004	NM_000693.4(ALDH1A3):c.1233+2T>C	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (splice donor variant)	Isolated microphthalmia 8	GPathogenic
Select item 1802997	NM_000693.4(ALDH1A3):c.1393A>T (p.Ile465Phe)	ALDH1A3, ALDH1A3-AS1 (I358F +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 8	GUncertain significance
Select item 1802999	NM_000693.4(ALDH1A3):c.1459A>G (p.Arg487Gly)	ALDH1A3, ALDH1A3-AS1 (R380G +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 8	GLikely pathogenic