"Ambry Genetics"[submitter] AND "C6"[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2473454	NM_000065.5(C6):c.2699T>C (p.Met900Thr)	C6 (M900T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334635	NM_000065.5(C6):c.2696A>T (p.Lys899Ile)	C6 (K899I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1503597	NM_000065.5(C6):c.2522G>A (p.Arg841His)	C6 (R841H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2247897	NM_000065.5(C6):c.2317T>C (p.Cys773Arg)	C6 (C773R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296834	NM_000065.5(C6):c.2315A>G (p.His772Arg)	C6 (H772R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136059	NM_000065.5(C6):c.2242G>A (p.Gly748Arg)	C6 (G748R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1436325	NM_000065.5(C6):c.2105C>T (p.Thr702Met)	C6 (T702M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2181179	NM_000065.5(C6):c.2072C>T (p.Thr691Ile)	C6 (T691I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1409732	NM_000065.5(C6):c.2031A>C (p.Glu677Asp)	C6 (E677D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1402720	NM_000065.5(C6):c.2003T>A (p.Val668Asp)	C6 (V668D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 3262534	NM_000065.5(C6):c.1964T>C (p.Ile655Thr)	C6 (I655T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136058	NM_000065.5(C6):c.1942G>T (p.Val648Phe)	C6 (V648F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288434	NM_000065.5(C6):c.1939C>A (p.Pro647Thr)	C6 (P647T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1423647	NM_000065.5(C6):c.1927G>A (p.Gly643Arg)	C6 (G643R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1011338	NM_000065.5(C6):c.1900G>A (p.Asp634Asn)	C6 (D634N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2406042	NM_000065.5(C6):c.1845C>G (p.Ile615Met)	C6 (I615M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325510	NM_000065.5(C6):c.1803T>G (p.Cys601Trp)	C6 (C601W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136056	NM_000065.5(C6):c.1802G>A (p.Cys601Tyr)	C6 (C601Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1137982	NM_000065.5(C6):c.1787G>A (p.Arg596Gln)	C6 (R596Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3136055	NM_000065.5(C6):c.1778C>T (p.Ala593Val)	C6 (A593V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1382098	NM_000065.5(C6):c.1769A>G (p.Asn590Ser)	C6 (N590S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3136054	NM_000065.5(C6):c.1767C>G (p.Cys589Trp)	C6 (C589W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2419115	NM_000065.5(C6):c.1760G>A (p.Arg587Gln)	C6 (R587Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1489187	NM_000065.5(C6):c.1747A>G (p.Arg583Gly)	C6 (R583G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1448343	NM_000065.5(C6):c.1696G>A (p.Gly566Arg)	C6 (G566R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1465340	NM_000065.5(C6):c.1618C>G (p.Leu540Val)	C6 (L540V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1400677	NM_000065.5(C6):c.1612G>A (p.Glu538Lys)	C6 (E538K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2316223	NM_000065.5(C6):c.1600C>T (p.Leu534Phe)	C6 (L534F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521930	NM_000065.5(C6):c.1592G>A (p.Arg531Gln)	C6 (R531Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136053	NM_000065.5(C6):c.1515C>A (p.Asn505Lys)	C6 (N505K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1367814	NM_000065.5(C6):c.1510C>T (p.Arg504Trp)	C6 (R504W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1175125	NM_000065.5(C6):c.1498G>T (p.Ala500Ser)	C6 (A500S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2623755	NM_000065.5(C6):c.1479G>T (p.Leu493Phe)	C6 (L493F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136052	NM_000065.5(C6):c.1477T>G (p.Leu493Val)	C6 (L493V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212691	NM_000065.5(C6):c.1397A>C (p.Glu466Ala)	C6 (E466A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136051	NM_000065.5(C6):c.1387G>A (p.Gly463Ser)	C6 (G463S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1428653	NM_000065.5(C6):c.1382G>A (p.Ser461Asn)	C6 (S461N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1957876	NM_000065.5(C6):c.1366G>A (p.Ala456Thr)	C6 (A456T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1401063	NM_000065.5(C6):c.1334G>A (p.Arg445Gln)	C6 (R445Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2569782	NM_000065.5(C6):c.1324T>C (p.Ser442Pro)	C6 (S442P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1430366	NM_000065.5(C6):c.1318T>G (p.Ser440Ala)	C6 (S440A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2243005	NM_000065.5(C6):c.1286A>G (p.His429Arg)	C6 (H429R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 994396	NM_000065.5(C6):c.1205T>C (p.Ile402Thr)	C6 (I402T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3262535	NM_000065.5(C6):c.1203G>T (p.Arg401Ser)	C6 (R401S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 999262	NM_000065.5(C6):c.1169G>A (p.Gly390Asp)	C6 (G390D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3262538	NM_000065.5(C6):c.1079A>T (p.Asp360Val)	C6 (D360V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1496562	NM_000065.5(C6):c.1067G>A (p.Arg356Gln)	C6 (R356Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 636397	NM_000065.5(C6):c.955G>A (p.Val319Met)	C6 (V319M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1381867	NM_000065.5(C6):c.919C>T (p.His307Tyr)	C6 (H307Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2170338	NM_000065.5(C6):c.907A>G (p.Ile303Val)	C6 (I303V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3262537	NM_000065.5(C6):c.847A>G (p.Ile283Val)	C6 (I283V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492955	NM_000065.5(C6):c.838A>T (p.Ser280Cys)	C6 (S280C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1170177	NM_000065.5(C6):c.823G>T (p.Gly275Trp)	C6 (G275W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1371270	NM_000065.5(C6):c.821A>G (p.Gln274Arg)	C6 (Q274R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2519705	NM_000065.5(C6):c.806G>A (p.Gly269Asp)	C6 (G269D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309872	NM_000065.5(C6):c.805G>A (p.Gly269Ser)	C6 (G269S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1444357	NM_000065.5(C6):c.750G>C (p.Leu250Phe)	C6 (L250F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3136061	NM_000065.5(C6):c.697C>T (p.Pro233Ser)	C6 (P233S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1019553	NM_000065.5(C6):c.650T>C (p.Ile217Thr)	C6 (I217T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1463793	NM_000065.5(C6):c.449G>A (p.Arg150His)	C6 (R150H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1419529	NM_000065.5(C6):c.434G>A (p.Arg145His)	C6 (R145H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1419194	NM_000065.5(C6):c.323G>A (p.Arg108His)	C6 (R108H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1467210	NM_000065.5(C6):c.307G>A (p.Val103Ile)	C6 (V103I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1419070	NM_000065.5(C6):c.272C>T (p.Ser91Leu)	C6 (S91L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2417470	NM_000065.5(C6):c.230G>C (p.Arg77Thr)	C6 (R77T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 994397	NM_000065.5(C6):c.186A>C (p.Glu62Asp)	C6 (E62D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3262536	NM_000065.5(C6):c.98C>T (p.Thr33Ile)	C6 (T33I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605318	NM_000065.5(C6):c.50A>C (p.Asn17Thr)	C6 (N17T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2163242	NM_000065.5(C6):c.48C>G (p.Ile16Met)	C6 (I16M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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Items: 70