ClinVar for Gene (Select 394263) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296901	NM_001010909.5(MUC21):c.1372A>G (p.Thr458Ala)	LOC126859647, MUC21 (T458A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296900	NM_001010909.5(MUC21):c.268G>A (p.Ala90Thr)	MUC21 (A90T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296899	NM_001010909.5(MUC21):c.398G>A (p.Ser133Asn)	MUC21 (S133N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296897	NM_001010909.5(MUC21):c.1451C>A (p.Thr484Asn)	LOC126859647, MUC21 (T484N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296896	NM_001010909.5(MUC21):c.198C>A (p.Ser66Arg)	MUC21 (S66R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296895	NM_001010909.5(MUC21):c.803G>A (p.Gly268Asp)	LOC126859647, MUC21 (G268D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296894	NM_001010909.5(MUC21):c.203C>T (p.Thr68Ile)	MUC21 (T68I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296893	NM_001010909.5(MUC21):c.386C>T (p.Ser129Phe)	MUC21 (S129F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3250763	NM_001010909.5(MUC21):c.800_801insTAGCACAGCCACCAACTCTGACTCCAGCACAACCTCCAGTGGGGC (p.Ala267_Gly268insSerThrAlaThrAsnSerAspSerSerThrThrSerSerGlyAla)	LOC126859647, MUC21	Indel (inframe_insertion +1 more)	not provided	GLikely benign
Select item 3250737	NM_001010909.5(MUC21):c.798G>A (p.Gly266=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3250625	NM_001010909.5(MUC21):c.981C>T (p.Ala327=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3234452	NM_001010909.5(MUC21):c.1275C>T (p.Ser425=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3234360	NM_001010909.5(MUC21):c.1203G>A (p.Gly401=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3234293	NM_001010909.5(MUC21):c.339C>G (p.Thr113=)	MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3234135	NM_001010909.5(MUC21):c.1212A>T (p.Thr404=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3220203	NM_001010909.5(MUC21):c.917G>A (p.Ser306Asn)	LOC126859647, MUC21 (S336N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220181	NM_001010909.5(MUC21):c.713G>A (p.Ser238Asn)	LOC126859647, MUC21 (S268N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220178	NM_001010909.5(MUC21):c.671C>G (p.Thr224Arg)	LOC126859647, MUC21 (T224R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220168	NM_001010909.5(MUC21):c.436G>A (p.Gly146Arg)	MUC21 (G146R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220150	NM_001010909.5(MUC21):c.1630C>T (p.Pro544Ser)	MUC21 (P574S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220146	NM_001010909.5(MUC21):c.1627A>T (p.Ser543Cys)	MUC21 (S573C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220143	NM_001010909.5(MUC21):c.133G>A (p.Ala45Thr)	MUC21 (A45T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220128	NM_001010909.5(MUC21):c.1227G>C (p.Glu409Asp)	LOC126859647, MUC21 (E409D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220114	NM_001010909.5(MUC21):c.1011G>A (p.Thr337=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3067284	NM_001010909.5(MUC21):c.1077A>T (p.Thr359=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3067198	NM_001010909.5(MUC21):c.531C>T (p.Ala177=)	MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3062937	GRCh37/hg19 6p21.33(chr6:30629521-30962674)x3	DDR1, DHX16 +11 more	Copy number gain	not specified	GUncertain significance
Select item 3052265	NM_001010909.5(MUC21):c.717A>T (p.Thr239=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	MUC21-related disorder	GLikely benign
Select item 3025699	NM_001010909.5(MUC21):c.744C>A (p.Pro248=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025687	NM_001010909.5(MUC21):c.963C>T (p.Ser321=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025037	NM_001010909.5(MUC21):c.924C>T (p.Thr308=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2681416	NM_001010909.5(MUC21):c.1122A>T (p.Thr374=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2656381	NM_001010909.5(MUC21):c.1239G>C (p.Val413=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656380	NM_001010909.5(MUC21):c.1176C>T (p.Thr392=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656379	NM_001010909.5(MUC21):c.1161C>T (p.Ala387=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2656378	NM_001010909.5(MUC21):c.1140C>T (p.Ser380=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656377	NM_001010909.5(MUC21):c.1137G>C (p.Glu379Asp)	LOC126859647, MUC21 (E379D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2656376	NM_001010909.5(MUC21):c.1131C>T (p.Asn377=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656375	NM_001010909.5(MUC21):c.1116C>T (p.Thr372=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656374	NM_001010909.5(MUC21):c.1114A>G (p.Thr372Ala)	LOC126859647, MUC21 (T372A)	Single nucleotide variant (no sequence alteration +2 more)	not provided	GLikely benign
Select item 2656373	NM_001010909.5(MUC21):c.1113G>A (p.Gly371=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656372	NM_001010909.5(MUC21):c.1098C>T (p.Ser366=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2656371	NM_001010909.5(MUC21):c.1057A>C (p.Thr353Pro)	LOC126859647, MUC21 (T353P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2656370	NM_001010909.5(MUC21):c.1041C>T (p.Asn347=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2656369	NM_001010909.5(MUC21):c.1032A>T (p.Thr344=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656368	NM_001010909.5(MUC21):c.1026C>T (p.Ala342=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656367	NM_001010909.5(MUC21):c.1005C>T (p.Ser335=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656366	NM_001010909.5(MUC21):c.982A>G (p.Ser328Gly)	LOC126859647, MUC21 (N358D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2656365	NM_001010909.5(MUC21):c.966A>G (p.Thr322=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656364	NM_001010909.5(MUC21):c.966A>C (p.Thr322=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656363	NM_001010909.5(MUC21):c.942A>T (p.Thr314=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656362	NM_001010909.5(MUC21):c.933G>A (p.Gly311=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656361	NM_001010909.5(MUC21):c.897A>T (p.Thr299=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656360	NM_001010909.5(MUC21):c.879C>G (p.Pro293=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656359	NM_001010909.5(MUC21):c.825C>T (p.Ser275=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656358	NM_001010909.5(MUC21):c.801C>T (p.Ala267=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2656357	NM_001010909.5(MUC21):c.711C>T (p.Ala237=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656356	NM_001010909.5(MUC21):c.696G>A (p.Thr232=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656355	NM_001010909.5(MUC21):c.672A>T (p.Thr224=)	LOC126859647, MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656354	NM_001010909.5(MUC21):c.651G>A (p.Thr217=)	MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656353	NM_001010909.5(MUC21):c.528G>A (p.Gly176=)	MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656352	NM_001010909.5(MUC21):c.513C>T (p.Ser171=)	MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656351	NM_001010909.5(MUC21):c.486C>T (p.Ala162=)	MUC21	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2656350	NM_001010909.5(MUC21):c.420C>T (p.Ser140=)	MUC21	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2656349	NM_001010909.5(MUC21):c.375C>T (p.Ser125=)	MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656348	NM_001010909.5(MUC21):c.303G>A (p.Gly101=)	MUC21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2559093	NM_001010909.5(MUC21):c.326A>G (p.Glu109Gly)	MUC21 (E109G)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2555343	NM_001010909.5(MUC21):c.1304C>T (p.Ala435Val)	LOC126859647, MUC21 (A465V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555342	NM_001010909.5(MUC21):c.1294G>A (p.Ala432Thr)	LOC126859647, MUC21 (A462T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2555341	NM_001010909.5(MUC21):c.1283C>T (p.Thr428Ile)	LOC126859647, MUC21 (T428I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555340	NM_001010909.5(MUC21):c.1282A>G (p.Thr428Ala)	LOC126859647, MUC21 (T488A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517603	NM_001010909.5(MUC21):c.1064G>A (p.Ser355Asn)	LOC126859647, MUC21 (S355N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507708	NM_001010909.5(MUC21):c.175A>G (p.Thr59Ala)	MUC21 (T59A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474548	NM_001010909.5(MUC21):c.1016C>T (p.Ser339Phe)	LOC126859647, MUC21 (S369F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470722	NM_001010909.5(MUC21):c.830C>T (p.Thr277Ile)	LOC126859647, MUC21 (T277I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 2390487	NM_001010909.5(MUC21):c.875C>T (p.Thr292Ile)	LOC126859647, MUC21 (T292I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384135	NM_001010909.5(MUC21):c.1202G>A (p.Gly401Glu)	LOC126859647, MUC21 (G401E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2379483	NM_001010909.5(MUC21):c.715A>G (p.Thr239Ala)	LOC126859647, MUC21 (T239A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358315	NM_001010909.5(MUC21):c.397A>G (p.Ser133Gly)	MUC21 (S133G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350258	NM_001010909.5(MUC21):c.1117A>G (p.Ser373Gly)	LOC126859647, MUC21 (N403D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348090	NM_001010909.5(MUC21):c.389G>A (p.Ser130Asn)	MUC21 (S130N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344376	NM_001010909.5(MUC21):c.1220A>C (p.Asn407Thr)	LOC126859647, MUC21 (N407T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343904	NM_001010909.5(MUC21):c.893A>G (p.Asn298Ser)	LOC126859647, MUC21 (N298S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2334821	NM_001010909.5(MUC21):c.244A>G (p.Thr82Ala)	MUC21 (T82A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330695	NM_001010909.5(MUC21):c.556A>G (p.Ser186Gly)	MUC21 (S186G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311116	NM_001010909.5(MUC21):c.839G>A (p.Ser280Asn)	LOC126859647, MUC21 (S310N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297662	NM_001010909.5(MUC21):c.1010C>T (p.Thr337Met)	LOC126859647, MUC21 (T367M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279995	NM_001010909.5(MUC21):c.372G>C (p.Glu124Asp)	MUC21 (E124D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269611	NM_001010909.5(MUC21):c.247A>G (p.Thr83Ala)	MUC21 (T83A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258657	NM_001010909.5(MUC21):c.199G>A (p.Val67Met)	MUC21 (V67M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257269	NM_001010909.5(MUC21):c.802G>T (p.Gly268Cys)	LOC126859647, MUC21 (S298C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238050	NM_001010909.5(MUC21):c.1614C>G (p.His538Gln)	MUC21 (H538Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221162	NM_001010909.5(MUC21):c.918T>G (p.Ser306Arg)	LOC126859647, MUC21 (S336R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205694	NM_001010909.5(MUC21):c.995A>C (p.Asn332Thr)	LOC126859647, MUC21 (N362T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1679763	Single allele	DDR1, GTF2H4 +8 more	Duplication	not provided	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic

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