4582[geneid] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 60040	GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	LOC129931527, LOC129931528 +91 more	Copy number loss	See cases	GPathogenic
Select item 151444	GRCh38/hg38 1q21.3-22(chr1:155006546-155464263)x3	ADAM15, ADAM15-EFNA4 +67 more	Copy number gain	See cases	GUncertain significance
Select item 57458	GRCh38/hg38 1q22(chr1:155182457-155787428)x3	ASH1L, ASH1L-AS1 +45 more	Copy number gain	See cases	GUncertain significance
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 3061706	NM_002456.6(MUC1):c.800C>G (p.Ala267Gly)	MUC1 (A1224G +17 more)	Single nucleotide variant (missense variant +1 more)	MUC1-related disorder	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 3065546	NM_001204285.2(MUC1):c.1354-1G>A	MUC1	Single nucleotide variant (splice acceptor variant)	Tubulointerstitial kidney disease, autosomal dominant, 2	GLikely pathogenic
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 3068105	NM_002456.6(MUC1):c.717del (p.Ser240fs)	MUC1 (S117fs +17 more)	Deletion (frameshift variant +1 more)	Tubulointerstitial kidney disease, autosomal dominant, 2	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 3036300	NM_002456.6(MUC1):c.628G>A (p.Gly210Arg)	MUC1 (G114R +20 more)	Single nucleotide variant (missense variant)	MUC1-related disorder	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 3337336	NM_001204287.2(MUC1):c.590T>C (p.Leu197Pro)	MUC1 (L104P +14 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 1049509	NM_001204288.2(MUC1):c.493G>A (p.Gly165Ser)	MUC1 (G104S +1 more)	Single nucleotide variant (synonymous variant +2 more)	MUC1-related disorder	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 3036365	NM_002456.6(MUC1):c.468C>T (p.Asp156=)	MUC1	Single nucleotide variant (synonymous variant +1 more)	MUC1-related disorder	GLikely benign
Select item 3052067	NM_002456.6(MUC1):c.459G>A (p.Thr153=)	MUC1	Single nucleotide variant (synonymous variant +1 more)	MUC1-related disorder	GLikely benign
Select item 3350358	NM_002456.6(MUC1):c.431C>T (p.Thr144Met)	MUC1 (T101M +11 more)	Single nucleotide variant (missense variant +1 more)	MUC1-related disorder	GUncertain significance
Select item 974433	NM_002456.6(MUC1):c.430dup (p.Thr144fs)	MUC1 (T110fs +11 more)	Duplication (frameshift variant +1 more)	Tubulointerstitial kidney disease, autosomal dominant, 2	GPathogenic
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 2635023	NM_002456.6(MUC1):c.367C>G (p.Leu123Val)	MUC1 (L105V +11 more)	Single nucleotide variant (missense variant +1 more)	MUC1-related disorder	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 1301998	NM_002456.6(MUC1):c.253C>T (p.Gln85Ter)	MUC1 (Q1042* +6 more)	Single nucleotide variant (nonsense +2 more)	Tubulointerstitial kidney disease, autosomal dominant, 2	Gnot provided
Select item 1690490	NM_002456.6(MUC1):c.203C>A (p.Ser68Ter)	MUC1 (S1025* +4 more)	Single nucleotide variant (nonsense +1 more)	See cases	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 3257605	NM_002456.6(MUC1):c.160-52C>G	MUC1 (H238Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 2639393	NM_002456.6(MUC1):c.159+309C>T	MUC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 591327	NM_002456.6(MUC1):c.159+236dup	MUC1 (A135fs +1 more)	Duplication (frameshift variant +1 more)	not provided	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 2639394	NM_002456.6(MUC1):c.159+219A>G	MUC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 591579	NM_001204285.2(MUC1):c.302_361del (p.Val101_Ser120del)	MUC1	Deletion (inframe_deletion +1 more)	not provided	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 3341647	NM_002456.6(MUC1):c.159+180G>C	MUC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1879094	NM_001371720.2(MUC1):c.327G>C (p.Ser109=)	MUC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2506459	NM_001204285.2(MUC1):c.293_296dup (p.Ser100fs)	MUC1 (S100fs +1 more)	Duplication (frameshift variant +1 more)	Tubulointerstitial kidney disease, autosomal dominant, 2	GLikely pathogenic
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 3065438	NM_001204285.2(MUC1):c.184del (p.Ser62fs)	MUC1 (S62fs +1 more)	Deletion (frameshift variant +1 more)	Tubulointerstitial kidney disease, autosomal dominant, 2	GLikely pathogenic
Select item 3238849	NM_002456.6(MUC1):c.159+5G>C	MUC1 (S55T +1 more)	Single nucleotide variant (missense variant +1 more)	Tubulointerstitial kidney disease, autosomal dominant, 2	GUncertain significance
Select item 2630759	NM_002456.6(MUC1):c.151_159+5del	MUC1 (K51fs +1 more)	Deletion (frameshift variant +1 more)	MUC1-related disorder	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 2639395	NM_001204290.2(MUC1):c.59-23T>C	MUC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1321177	NM_001204286.1(MUC1):c.93G>A (p.Thr31=)	MUC1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
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
Select item 3051173	NM_002456.6(MUC1):c.31C>T (p.Leu11=)	MUC1	Single nucleotide variant (synonymous variant)	MUC1-related disorder	GLikely benign
Select item 1050501	NM_001371720.2(MUC1):c.28T>C (p.Phe10Leu)	MUC1 (F10L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	ADAM15, ADAR +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	YY1AP1, CRCT1 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814131	GRCh37/hg19 1q21.3-22(chr1:154898854-155242457)x3	EFNA4, ENTREP3 +23 more	Copy number gain	not provided	GUncertain significance
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 55830	NC_000001.10:g.(155160963_155162030)insC	MUC1	Insertion	Tubulointerstitial kidney disease, autosomal dominant, 2	GPathogenic

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Items: 98