Related gene-specific medical variations for Gene (Select 727) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245307	NC_000009.11:g.(?_123742341)_(123745112_?)del	C5	Deletion	not provided	GPathogenic
Select item 3245305	NC_000009.11:g.(?_123768177)_(123770796_?)del	C5	Deletion	not provided	GPathogenic
Select item 2998264	NM_001735.3(C5):c.5004C>T (p.Ala1668=)	C5, C5-OT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2630965	NM_001317163.2(C5):c.63C>A (p.Phe21Leu)	C5, LOC130002496 (F21L)	Single nucleotide variant (missense variant)	C5-related disorder	GUncertain significance
Select item 1917669	NM_001735.3(C5):c.4996G>A (p.Glu1666Lys)	C5, C5-OT1 (E1666K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1644150	NM_001735.3(C5):c.4968G>A (p.Ser1656=)	C5, C5-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1640950	NM_001735.3(C5):c.5017T>C (p.Leu1673=)	C5-OT1, C5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1565464	NM_001735.3(C5):c.5031A>G (p.Ter1677=)	C5, C5-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Complement component 5 deficiency +2 more	GLikely benign
Select item 1444040	NM_001735.3(C5):c.5011A>G (p.Ile1671Val)	C5, C5-OT1 (I1677V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GUncertain significance
Select item 1432048	NM_001735.3(C5):c.4949G>A (p.Arg1650Lys)	C5, C5-OT1 (R1650K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 1421436	NM_001735.3(C5):c.5005G>A (p.Glu1669Lys)	C5, C5-OT1 (E1675K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GUncertain significance
Select item 1394084	NM_001735.3(C5):c.4985C>T (p.Ala1662Val)	C5, C5-OT1 (A1668V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1342383	NM_001735.3(C5):c.4654G>A (p.Ala1552Thr)	C5 (A1552T +1 more)	Single nucleotide variant (missense variant)	Complement component 5 deficiency +1 more	GUncertain significance
Select item 1049860	NM_001317163.2(C5):c.79del (p.Cys27fs)	LOC130002496, C5 (C27fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1045011	NM_001735.3(C5):c.5024G>A (p.Gly1675Glu)	C5, C5-OT1 (G1675E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 161582	NM_001735.3(C5):c.3286A>G (p.Asn1096Asp)	C5 (N1096D +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 17054	C5, HAPLOTYPE, C5_1	C5	Variation	Reclassified - variant of unknown significance	GUncertain significance