ClinVar for MedGen (Select 462431) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1164179	NM_000562.3(C8A):c.107C>A (p.Ala36Glu)	C8A (A36E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1028843	NM_000562.3(C8A):c.630C>A (p.Tyr210Ter)	C8A (Y210*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1023205	NM_000562.3(C8A):c.1270C>T (p.Arg424Ter)	C8A (R424*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 791416	NM_000562.3(C8A):c.606T>C (p.Asp202=)	C8A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 789429	NM_000562.3(C8A):c.1331G>A (p.Arg444His)	C8A (R444H)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 626068	NM_000562.3(C8A):c.1589A>T (p.Gln530Leu)	C8A (Q530L)	Single nucleotide variant (missense variant)	Type I complement component 8 deficiency	GUncertain significance
Select item 29660	NM_000562.3(C8A):c.171+1G>T	C8A	Single nucleotide variant (splice donor variant)	Type I complement component 8 deficiency	GPathogenic
Select item 17039	NM_000562.3(C8A):c.277C>A (p.Gln93Lys)	C8A (Q93K)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign

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