"PreventionGenetics, part of Exact Sciences"[submitter] AND "C7"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1084122	NM_000587.4(C7):c.134C>T (p.Thr45Ile)	C7 (T45I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1169027	NM_000587.4(C7):c.183G>A (p.Gln61=)	C7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1992071	NM_000587.4(C7):c.253del (p.Cys85fs)	C7 (C85fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 432759	NM_000587.4(C7):c.405del (p.Asn136fs)	C7 (N136fs)	Deletion (frameshift variant)	C7-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 1936746	NM_000587.4(C7):c.897C>T (p.Tyr299=)	C7	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1166137	NM_000587.4(C7):c.996C>T (p.Val332=)	C7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 12108	NM_000587.4(C7):c.1135G>C (p.Gly379Arg)	C7 (G379R)	Single nucleotide variant (missense variant)	Complement component 7 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1948673	NM_000587.4(C7):c.1204C>T (p.Arg402Ter)	C7 (R402*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1546525	NM_000587.4(C7):c.1261-9T>C	C7	Single nucleotide variant (intron variant)	C7-related disorder +1 more	GBenign/Likely benign
Select item 2038937	NM_000587.4(C7):c.1482T>G (p.Asn494Lys)	C7 (N494K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1630486	NM_000587.4(C7):c.1542A>G (p.Gln514=)	C7	Single nucleotide variant (synonymous variant)	C7-related disorder +1 more	GBenign/Likely benign
Select item 1170592	NM_000587.4(C7):c.2350+9C>A	C7	Single nucleotide variant (intron variant)	C7-related disorder +1 more	GBenign
Select item 3049747	NM_000587.4(C7):c.2385G>A (p.Ser795=)	C7	Single nucleotide variant (synonymous variant)	C7-related disorder	GLikely benign