ClinVar for MedGen (Select 1715138) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439623	NM_145698.5(ACBD5):c.462del (p.Ser155fs)	ACBD5 (S120fs +4 more)	Deletion (frameshift variant)	Retinal dystrophy with leukodystrophy	GLikely pathogenic
Select item 2438826	NM_145698.5(ACBD5):c.1565+2T>A	ACBD5	Single nucleotide variant (splice donor variant)	Retinal dystrophy with leukodystrophy	GUncertain significance
Select item 1188853	NM_145698.5(ACBD5):c.15+54G>T	ACBD5	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GBenign
Select item 1188852	NM_145698.5(ACBD5):c.491-51A>G	ACBD5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1166118	NM_145698.5(ACBD5):c.519A>G (p.Pro173=)	ACBD5	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy with leukodystrophy +1 more	GBenign
Select item 1125562	NM_145698.5(ACBD5):c.1178A>G (p.Glu393Gly)	ACBD5 (E216G +17 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 969184	NM_145698.5(ACBD5):c.122C>A (p.Ser41Tyr)	ACBD5, LOC130003557 (S48Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 915976	GRCh37/hg19 10p12.1(chr10:27504464-27504571)	ACBD5	Copy number loss	Retinal dystrophy with leukodystrophy	GPathogenic
Select item 870223	NM_145698.4:c.626-689_937-234delins936+1075_c.936+1230inv	ACBD5	Indel	Retinal dystrophy with leukodystrophy	GPathogenic
Select item 854374	NM_145698.5(ACBD5):c.1285G>A (p.Asp429Asn)	ACBD5 (D252N +17 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 242989	NM_145698.5(ACBD5):c.1204+1G>A	ACBD5	Single nucleotide variant (splice donor variant)	Retinal dystrophy with leukodystrophy	GPathogenic