"TMEM63A-related disorder"[Disease/phenotype] AND "PreventionGenetics, - 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 2570753	NM_014698.3(TMEM63A):c.2251-6T>C	TMEM63A	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3058199	NM_014698.3(TMEM63A):c.1999G>A (p.Ala667Thr)	TMEM63A (A667T)	Single nucleotide variant (missense variant)	TMEM63A-related disorder	GLikely benign
Select item 2672384	NM_014698.3(TMEM63A):c.1906C>G (p.Leu636Val)	TMEM63A (L636V)	Single nucleotide variant (missense variant)	TMEM63A-related disorder +1 more	GBenign/Likely benign
Select item 3041317	NM_014698.3(TMEM63A):c.1750C>T (p.Arg584Cys)	TMEM63A (R584C)	Single nucleotide variant (missense variant)	TMEM63A-related disorder	GLikely benign
Select item 2634313	NM_014698.3(TMEM63A):c.1635-2A>C	TMEM63A	Single nucleotide variant (splice acceptor variant)	TMEM63A-related disorder	GUncertain significance
Select item 2634413	NM_014698.3(TMEM63A):c.828delA (p.Lys277fs)	TMEM63A (K277fs)	Deletion (frameshift variant)	TMEM63A-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1342230	NM_014698.3(TMEM63A):c.507C>T (p.Asp169=)	TMEM63A	Single nucleotide variant (synonymous variant)	TMEM63A-related disorder +1 more	GBenign
Select item 2341459	NM_014698.3(TMEM63A):c.478G>A (p.Val160Ile)	TMEM63A (V160I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3049055	NM_014698.3(TMEM63A):c.406G>A (p.Ala136Thr)	TMEM63A (A136T)	Single nucleotide variant (missense variant)	TMEM63A-related disorder	GLikely benign
Select item 2359022	NM_014698.3(TMEM63A):c.43G>A (p.Val15Met)	TMEM63A (V15M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2629815	NM_014698.3(TMEM63A):c.14C>G (p.Pro5Arg)	TMEM63A (P5R)	Single nucleotide variant (missense variant)	TMEM63A-related disorder	GUncertain significance