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

Search results

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2408897	NM_001085377.2(MCC):c.2966A>G (p.Glu989Gly)	MCC (E799G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526174	NM_001085377.2(MCC):c.2936A>G (p.Lys979Arg)	MCC (K789R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508111	NM_001085377.2(MCC):c.2854G>A (p.Val952Met)	MCC (V762M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368330	NM_001085377.2(MCC):c.2801T>C (p.Leu934Ser)	MCC (L744S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213058	NM_001085377.2(MCC):c.2795G>A (p.Ser932Asn)	MCC (S742N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223285	NM_001085377.2(MCC):c.2786A>G (p.Glu929Gly)	MCC (E739G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592733	NM_001085377.2(MCC):c.2753G>A (p.Arg918His)	MCC (R918H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610994	NM_001085377.2(MCC):c.2737T>C (p.Phe913Leu)	MCC (F723L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261439	NM_001085377.2(MCC):c.2731G>T (p.Ala911Ser)	MCC (A911S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221918	NM_001085377.2(MCC):c.2716G>A (p.Glu906Lys)	MCC (E906K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550877	NM_001085377.2(MCC):c.2699T>G (p.Leu900Arg)	MCC (L710R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369890	NM_001085377.2(MCC):c.2695G>A (p.Glu899Lys)	MCC (E709K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468267	NM_001085377.2(MCC):c.2654A>T (p.Lys885Met)	MCC (K695M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369870	NM_001085377.2(MCC):c.2528G>A (p.Arg843Gln)	MCC (R843Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219411	NM_001085377.2(MCC):c.2525C>T (p.Thr842Met)	MCC (T652M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605460	NM_001085377.2(MCC):c.2504C>A (p.Ala835Asp)	MCC (A835D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369422	NM_001085377.2(MCC):c.2425A>C (p.Met809Leu)	MCC (M619L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326611	NM_001085377.2(MCC):c.2266G>A (p.Glu756Lys)	MCC (E566K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279796	NM_001085377.2(MCC):c.2248G>A (p.Glu750Lys)	MCC (E560K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608673	NM_001085377.2(MCC):c.2198C>T (p.Ser733Phe)	MCC (S733F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360654	NM_001085377.2(MCC):c.2158G>A (p.Val720Met)	MCC (V720M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404392	NM_001085377.2(MCC):c.1927G>A (p.Glu643Lys)	MCC (E453K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311852	NM_001085377.2(MCC):c.1909C>A (p.Leu637Met)	MCC (L447M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307149	NM_001085377.2(MCC):c.1847G>A (p.Ser616Asn)	MCC (S426N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469792	NM_001085377.2(MCC):c.1811A>T (p.Asn604Ile)	MCC (N414I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376465	NM_001085377.2(MCC):c.1738G>A (p.Glu580Lys)	LOC126807478, MCC (E390K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476386	NM_001085377.2(MCC):c.1676A>C (p.Gln559Pro)	LOC126807478, MCC (Q559P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313244	NM_001085377.2(MCC):c.1601G>A (p.Arg534Gln)	MCC (R534Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224131	NM_001085377.2(MCC):c.1540G>A (p.Ala514Thr)	MCC (A324T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531113	NM_001085377.2(MCC):c.1460G>A (p.Arg487His)	MCC (R297H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476277	NM_001085377.2(MCC):c.1450A>C (p.Ser484Arg)	MCC (S294R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468478	NM_001085377.2(MCC):c.1385G>A (p.Arg462Gln)	MCC (R272Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388331	NM_001085377.2(MCC):c.1223G>A (p.Arg408Gln)	MCC (R408Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402057	NM_001085377.2(MCC):c.1129G>A (p.Glu377Lys)	MCC (E377K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512294	NM_001085377.2(MCC):c.1123G>A (p.Val375Met)	MCC (V375M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245618	NM_001085377.2(MCC):c.1094G>T (p.Gly365Val)	MCC (G365V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325539	NM_001085377.2(MCC):c.1024A>G (p.Met342Val)	MCC (M342V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234563	NM_001085377.2(MCC):c.996A>T (p.Glu332Asp)	MCC (E332D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464569	NM_001085377.2(MCC):c.977C>A (p.Thr326Asn)	MCC (T326N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408938	NM_001085377.2(MCC):c.919C>T (p.Leu307Phe)	MCC (L117F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456503	NM_001085377.2(MCC):c.893A>T (p.Asp298Val)	MCC (D108V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532555	NM_001085377.2(MCC):c.814A>G (p.Ile272Val)	MCC (I272V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597487	NM_001085377.2(MCC):c.809A>G (p.Glu270Gly)	MCC (E80G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593253	NM_001085377.2(MCC):c.791C>T (p.Thr264Met)	MCC (T264M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458221	NM_001085377.2(MCC):c.788G>A (p.Arg263Gln)	MCC (R263Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268912	NM_001085377.2(MCC):c.771T>G (p.His257Gln)	MCC (H67Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387515	NM_001085377.2(MCC):c.756C>A (p.His252Gln)	MCC (H252Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349395	NM_001085377.2(MCC):c.750G>C (p.Gln250His)	MCC (Q250H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604849	NM_001085377.2(MCC):c.749A>G (p.Gln250Arg)	MCC (Q250R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1050178	NM_001085377.2(MCC):c.745G>A (p.Glu249Lys)	MCC (E249K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292767	NM_001085377.2(MCC):c.623A>G (p.Asn208Ser)	MCC (N208S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396582	NM_001085377.2(MCC):c.356G>C (p.Cys119Ser)	MCC (C119S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377447	NM_001085377.2(MCC):c.331C>G (p.Leu111Val)	MCC (L111V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321996	NM_001085377.2(MCC):c.302T>C (p.Val101Ala)	MCC (V101A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613832	NM_001085377.2(MCC):c.293T>A (p.Met98Lys)	MCC (M98K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396995	NM_001085377.2(MCC):c.220G>A (p.Ala74Thr)	MCC (A74T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219899	NM_001085377.2(MCC):c.174T>G (p.Asn58Lys)	MCC (N58K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483661	NM_032028.4(TSSK1B):c.1069C>T (p.Pro357Ser)	MCC, TSSK1B (P357S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220865	NM_032028.4(TSSK1B):c.1016C>T (p.Ser339Leu)	MCC, TSSK1B (S339L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210847	NM_032028.4(TSSK1B):c.1012C>G (p.Gln338Glu)	TSSK1B, MCC (Q338E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595437	NM_032028.4(TSSK1B):c.896C>A (p.Thr299Asn)	MCC, TSSK1B (T299N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609567	NM_032028.4(TSSK1B):c.891G>T (p.Leu297Phe)	MCC, TSSK1B (L297F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2384826	NM_032028.4(TSSK1B):c.875G>A (p.Arg292Gln)	MCC, TSSK1B (R292Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465391	NM_032028.4(TSSK1B):c.874C>T (p.Arg292Trp)	MCC, TSSK1B (R292W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2412421	NM_032028.4(TSSK1B):c.830G>A (p.Arg277Gln)	TSSK1B, MCC (R277Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474929	NM_032028.4(TSSK1B):c.739G>A (p.Asp247Asn)	MCC, TSSK1B (D247N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293576	NM_032028.4(TSSK1B):c.725C>T (p.Thr242Ile)	TSSK1B, MCC (T242I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327995	NM_032028.4(TSSK1B):c.649G>A (p.Asp217Asn)	MCC, TSSK1B (D217N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342886	NM_032028.4(TSSK1B):c.625A>G (p.Met209Val)	MCC, TSSK1B (M209V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330564	NM_032028.4(TSSK1B):c.592G>A (p.Asp198Asn)	MCC, TSSK1B (D198N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407144	NM_032028.4(TSSK1B):c.586G>A (p.Val196Met)	MCC, TSSK1B (V196M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376435	NM_032028.4(TSSK1B):c.545C>T (p.Ala182Val)	MCC, TSSK1B (A182V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289102	NM_032028.4(TSSK1B):c.500G>A (p.Gly167Asp)	MCC, TSSK1B (G167D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341715	NM_032028.4(TSSK1B):c.488G>A (p.Arg163Gln)	MCC, TSSK1B (R163Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2343279	NM_032028.4(TSSK1B):c.397G>A (p.Val133Ile)	TSSK1B, MCC (V133I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397209	NM_032028.4(TSSK1B):c.271G>C (p.Glu91Gln)	TSSK1B, MCC (E91Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344691	NM_032028.4(TSSK1B):c.196A>G (p.Met66Val)	TSSK1B, MCC (M66V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376676	NM_032028.4(TSSK1B):c.26G>A (p.Arg9Gln)	TSSK1B, MCC (R9Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392591	NM_032028.4(TSSK1B):c.10G>A (p.Ala4Thr)	TSSK1B, MCC (A4T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330094	NM_001085377.2(MCC):c.137C>G (p.Thr46Arg)	MCC (T46R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247585	NM_001085377.2(MCC):c.103G>A (p.Gly35Ser)	MCC (G35S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296585	NM_001085377.2(MCC):c.61G>C (p.Gly21Arg)	LOC121079957, MCC (G21R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 82