ClinVar for MedGen (Select 1622324) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500176	NM_018367.7(ACER3):c.631G>T (p.Gly211Cys)	ACER3 (G116C +2 more)	Single nucleotide variant (missense variant)	Alkaline ceramidase 3 deficiency	GPathogenic
Select item 1236177	NM_018367.7(ACER3):c.238T>C (p.Phe80Leu)	ACER3 (F43L +1 more)	Single nucleotide variant (missense variant +1 more)	Alkaline ceramidase 3 deficiency	GUncertain significance
Select item 1030362	NM_018367.7(ACER3):c.587G>A (p.Cys196Tyr)	ACER3 (C101Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996745	NM_018367.7(ACER3):c.566G>A (p.Trp189Ter)	ACER3 (W152* +2 more)	Single nucleotide variant (nonsense)	Alkaline ceramidase 3 deficiency	GPathogenic
Select item 988663	NM_018367.7(ACER3):c.53T>C (p.Leu18Pro)	ACER3 (L18P)	Single nucleotide variant (missense variant +1 more)	Alkaline ceramidase 3 deficiency	GUncertain significance
Select item 988591	NM_018367.7(ACER3):c.292T>C (p.Tyr98His)	ACER3 (Y3H +2 more)	Single nucleotide variant (missense variant)	Alkaline ceramidase 3 deficiency	GUncertain significance
Select item 928843	NM_018367.7(ACER3):c.475C>T (p.Arg159Ter)	ACER3 (R122* +2 more)	Single nucleotide variant (nonsense)	Alkaline ceramidase 3 deficiency	GLikely pathogenic
Select item 548629	NM_018367.7(ACER3):c.607C>T (p.Arg203Ter)	ACER3 (R203* +2 more)	Single nucleotide variant (nonsense)	Alkaline ceramidase 3 deficiency	GPathogenic
Select item 446204	NM_018367.7(ACER3):c.98A>G (p.Glu33Gly)	ACER3 (E33G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance