"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "TMEM63A"[g - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1298454	NM_014698.3(TMEM63A):c.2369A>G (p.Gln790Arg)	TMEM63A (Q790R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701126	NM_014698.3(TMEM63A):c.2286G>A (p.Ser762=)	TMEM63A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2570753	NM_014698.3(TMEM63A):c.2251-6T>C	TMEM63A	Single nucleotide variant (intron variant)	TMEM63A-related condition +1 more	GLikely benign
Select item 2672384	NM_014698.3(TMEM63A):c.1906C>G (p.Leu636Val)	TMEM63A (L636V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2639963	NM_014698.3(TMEM63A):c.1895C>T (p.Ala632Val)	TMEM63A (A632V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3067495	NM_014698.3(TMEM63A):c.1721G>A (p.Arg574Gln)	TMEM63A (R574Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2639964	NM_014698.3(TMEM63A):c.1583dup (p.Phe529fs)	TMEM63A (F529fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1879113	NM_014698.3(TMEM63A):c.1533C>T (p.Ile511=)	TMEM63A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1711241	NM_014698.3(TMEM63A):c.1309A>G (p.Thr437Ala)	TMEM63A (T437A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3026113	NM_014698.3(TMEM63A):c.1020C>G (p.Arg340=)	TMEM63A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634413	NM_014698.3(TMEM63A):c.828delA (p.Lys277fs)	TMEM63A (K277fs)	Deletion (frameshift variant)	TMEM63A-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2639965	NM_014698.3(TMEM63A):c.498C>T (p.Leu166=)	TMEM63A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2341459	NM_014698.3(TMEM63A):c.478G>A (p.Val160Ile)	TMEM63A (V160I)	Single nucleotide variant (missense variant)	TMEM63A-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2639966	NM_014698.3(TMEM63A):c.210T>C (p.Ile70=)	TMEM63A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639967	NM_014698.3(TMEM63A):c.90C>G (p.Ser30=)	TMEM63A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign