"Fulgent Genetics, Fulgent Genetics"[submitter] AND "C6"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1355115	NM_000065.5(C6):c.2335_2336del (p.Gln779fs)	C6 (Q779fs)	Deletion (frameshift variant)	Complement component 6 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 770718	NM_000065.5(C6):c.2087A>G (p.Asp696Gly)	C6 (D696G)	Single nucleotide variant (missense variant)	Complement component 6 deficiency +2 more	GBenign/Likely benign
Select item 809752	NM_000065.5(C6):c.1999G>C (p.Asp667His)	C6 (D667H)	Single nucleotide variant (missense variant)	Complement component 6 deficiency +2 more	GUncertain significance
Select item 1170114	NM_000065.5(C6):c.1881C>T (p.Asp627=)	C6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 505659	NM_000065.5(C6):c.1879del (p.Asp627fs)	C6 (D627fs)	Deletion (frameshift variant)	C6-related condition +2 more	GPathogenic
Select item 208565	NM_000065.5(C6):c.1786C>T (p.Arg596Ter)	C6 (R596*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1167259	NM_000065.5(C6):c.1695C>T (p.Asp565=)	C6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1374116	NM_000065.5(C6):c.1219C>T (p.Arg407Cys)	C6 (R407C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 994396	NM_000065.5(C6):c.1205T>C (p.Ile402Thr)	C6 (I402T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 735134	NM_000065.5(C6):c.1189A>G (p.Lys397Glu)	C6 (K397E)	Single nucleotide variant (missense variant)	C6-related condition +2 more	GBenign/Likely benign
Select item 997513	NM_000065.5(C6):c.1138del (p.Gln380fs)	C6 (Q380fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1167260	NM_000065.5(C6):c.933T>C (p.Ser311=)	C6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1458860	NM_000065.5(C6):c.821del (p.Gln274fs)	C6 (Q274fs)	Deletion (frameshift variant)	C6-related condition +2 more	GPathogenic/Likely pathogenic
Select item 377318	NM_000065.5(C6):c.542C>T (p.Thr181Ile)	C6 (T181I)	Single nucleotide variant (missense variant)	C6-related condition +2 more	GBenign/Likely benign
Select item 996839	NM_000065.5(C6):c.143G>A (p.Arg48Lys)	C6 (R48K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance