"Ambry Genetics"[submitter] AND "MUC1"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2396204	NM_001204286.1(MUC1):c.1442C>G (p.Ser481Cys)	MUC1 (S174C +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3218848	NM_001204286.1(MUC1):c.1430T>C (p.Val477Ala)	MUC1 (V1223A +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321188	NM_001204286.1(MUC1):c.1363C>G (p.Arg455Gly)	MUC1 (R160G +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359641	NM_001204286.1(MUC1):c.1336C>T (p.Arg446Cys)	MUC1 (R112C +20 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510219	NM_001204286.1(MUC1):c.1247G>A (p.Arg416His)	MUC1 (R109H +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233079	NM_001204286.1(MUC1):c.1219C>T (p.Leu407Phe)	MUC1 (L161F +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2607544	NM_001204286.1(MUC1):c.1213G>A (p.Val405Ile)	MUC1 (C113Y +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3296821	NM_001204286.1(MUC1):c.1206G>T (p.Leu402=)	MUC1 (G111C +1 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3296825	NM_001204286.1(MUC1):c.1203G>A (p.Ala401=)	MUC1 (A171T +1 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2533651	NM_001204286.1(MUC1):c.1186G>A (p.Val396Ile)	MUC1 (V115I +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1031014	NM_001044393.3(MUC1):c.295C>T (p.Arg99Cys)	MUC1 (R160C +1 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3296827	NM_001204286.1(MUC1):c.1160G>A (p.Gly387Asp)	MUC1 (G115D +14 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3218827	NM_001204286.1(MUC1):c.1147G>T (p.Ala383Ser)	MUC1 (A1129S +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3218822	NM_001204286.1(MUC1):c.1147G>A (p.Ala383Thr)	MUC1 (A102T +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364650	NM_001204286.1(MUC1):c.1058A>G (p.Tyr353Cys)	MUC1 (Y110C +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2412243	NM_001204286.1(MUC1):c.1053T>A (p.Asn351Lys)	MUC1 (N342K +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3218929	NM_001204286.1(MUC1):c.937G>A (p.Gly313Arg)	MUC1 (G102R +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3296822	NM_001204286.1(MUC1):c.932A>G (p.Lys311Arg)	MUC1 (K109R +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288690	NM_001204286.1(MUC1):c.926T>C (p.Ile309Thr)	MUC1 (I300T +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622800	NM_001204286.1(MUC1):c.914T>C (p.Met305Thr)	MUC1 (M1051T +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3218921	NM_001204286.1(MUC1):c.818T>G (p.Phe273Cys)	MUC1 (F62C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334610	NM_001204286.1(MUC1):c.792G>T (p.Gln264His)	MUC1 (Q264H +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2616529	NM_001204286.1(MUC1):c.767C>T (p.Ser256Phe)	MUC1 (S247F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208060	NM_001204286.1(MUC1):c.749C>T (p.Thr250Met)	MUC1 (T996M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3218906	NM_001204286.1(MUC1):c.719A>C (p.Lys240Thr)	MUC1 (K240T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382428	NM_001204286.1(MUC1):c.703G>T (p.Ala235Ser)	MUC1 (A235S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3218901	NM_001204286.1(MUC1):c.695C>T (p.Thr232Ile)	MUC1 (T223I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3296826	NM_001204286.1(MUC1):c.664T>G (p.Ser222Ala)	MUC1 (S213A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3218895	NM_001204286.1(MUC1):c.616A>T (p.Thr206Ser)	MUC1 (T206S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394109	NM_001204286.1(MUC1):c.526G>A (p.Ala176Thr)	MUC1 (A167T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558907	NM_001204286.1(MUC1):c.524C>T (p.Pro175Leu)	MUC1 (P921L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333871	NM_001204286.1(MUC1):c.518A>G (p.Asn173Ser)	MUC1 (N173S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2290235	NM_001204286.1(MUC1):c.506C>G (p.Ser169Trp)	MUC1 (S915W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472745	NM_001204286.1(MUC1):c.487C>A (p.Pro163Thr)	MUC1 (P163T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3296824	NM_001204286.1(MUC1):c.478A>C (p.Thr160Pro)	MUC1 (T151P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401458	NM_001204286.1(MUC1):c.473G>T (p.Gly158Val)	MUC1 (G149V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400110	NM_001204286.1(MUC1):c.470C>T (p.Pro157Leu)	MUC1 (P148L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206728	NM_001204286.1(MUC1):c.458C>A (p.Thr153Asn)	MUC1 (T153N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527087	NM_001204286.1(MUC1):c.407C>A (p.Ala136Asp)	MUC1 (A136D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3218857	NM_001204286.1(MUC1):c.398A>C (p.Asn133Thr)	MUC1 (N124T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2278850	NM_001204286.1(MUC1):c.392C>T (p.Pro131Leu)	MUC1 (P122L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3218852	NM_001204286.1(MUC1):c.389C>A (p.Ala130Asp)	MUC1 (A130D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357056	NM_001204286.1(MUC1):c.379G>A (p.Val127Ile)	MUC1 (V127I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487509	NM_001204286.1(MUC1):c.272C>T (p.Pro91Leu)	MUC1 (P82L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2328034	NM_001204286.1(MUC1):c.239C>T (p.Ser80Phe)	MUC1 (S80F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540375	NM_001204286.1(MUC1):c.215G>A (p.Ser72Asn)	MUC1 (S63N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3296823	NM_001204286.1(MUC1):c.121G>A (p.Gly41Ser)	MUC1 (G32S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369110	NM_001204286.1(MUC1):c.113C>T (p.Ser38Phe)	MUC1 (S38F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488966	NM_001204286.1(MUC1):c.94G>A (p.Gly32Ser)	MUC1 (G23S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268440	NM_001204286.1(MUC1):c.79G>A (p.Ala27Thr)	MUC1 (A27T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2251206	NM_001204286.1(MUC1):c.79G>C (p.Ala27Pro)	MUC1 (A27P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231226	NM_001204286.1(MUC1):c.49G>T (p.Val17Leu)	MUC1 (V17L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 52