ClinVar for MedGen (Select 320461) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2692449	NM_005215.4(DCC):c.2551C>T (p.Gln851Ter)	DCC (Q851*)	Single nucleotide variant (nonsense)	Mirror movements 1	GLikely pathogenic
Select item 2626888	NM_005215.4(DCC):c.2280_2286del (p.Ile760fs)	DCC (I760fs)	Deletion (frameshift variant)	Mirror movements 1	GPathogenic
Select item 2579282	GRCh38/hg38 18q21.2(chr18:53157259-53340005)x1	DCC, MIR4528	Copy number loss	Mirror movements 1	GUncertain significance
Select item 2576977	NM_005215.4(DCC):c.3778C>T (p.Gln1260Ter)	DCC (Q1260*)	Single nucleotide variant (nonsense)	Mirror movements 1	GLikely pathogenic
Select item 2429879	NM_005215.4(DCC):c.1154T>A (p.Leu385Ter)	DCC (L385*)	Single nucleotide variant (nonsense)	Mirror movements 1	GPathogenic
Select item 2412759	NM_005215.4(DCC):c.2304C>G (p.Tyr768Ter)	DCC (Y768*)	Single nucleotide variant (nonsense)	Mirror movements 1	GLikely pathogenic
Select item 2412758	NM_005215.4(DCC):c.1256del (p.Lys419fs)	DCC (K419fs)	Deletion (frameshift variant)	Mirror movements 1	GLikely pathogenic
Select item 1992322	NM_005215.4(DCC):c.2220CAT[2] (p.Ile742del)	DCC (I742del)	Microsatellite (inframe_deletion)	Mirror movements 1	GUncertain significance
Select item 1710471	NM_005215.4(DCC):c.2034_2038del (p.Asn678fs)	DCC (N678fs)	Deletion (frameshift variant)	Mirror movements 1	GLikely pathogenic
Select item 1676259	NM_005215.4(DCC):c.2266C>T (p.Arg756Ter)	DCC (R756*)	Single nucleotide variant (nonsense)	Mirror movements 1	GPathogenic
Select item 1300257	NM_005215.4(DCC):c.2774dup (p.Asn925fs)	DCC (N925fs)	Duplication (frameshift variant)	Mirror movements 1	GPathogenic
Select item 1255458	NM_005215.4(DCC):c.3130+10A>G	DCC	Single nucleotide variant (intron variant)	Mirror movements 1 +2 more	GBenign
Select item 1255457	NM_005215.4(DCC):c.3108T>C (p.Pro1036=)	DCC	Single nucleotide variant (synonymous variant)	Gaze palsy, familial horizontal, with progressive scoliosis, 2 +2 more	GBenign
Select item 1255456	NM_005215.4(DCC):c.2053+13A>G	DCC	Single nucleotide variant (intron variant)	Mirror movements 1 +1 more	GBenign
Select item 1255455	NM_005215.4(DCC):c.354G>A (p.Glu118=)	DCC	Single nucleotide variant (synonymous variant)	DCC-related disorder +2 more	GBenign
Select item 1255454	NM_005215.4(DCC):c.67T>C (p.Phe23Leu)	DCC (F23L)	Single nucleotide variant (missense variant)	Mirror movements 1 +1 more	GBenign
Select item 1031521	NM_005215.4(DCC):c.2624C>T (p.Thr875Met)	DCC (T875M)	Single nucleotide variant (missense variant)	Mirror movements 1	GUncertain significance
Select item 1029949	NM_005215.4(DCC):c.2316_2317delinsAA (p.Arg773Ser)	DCC (R773S)	Indel (missense variant)	Mirror movements 1	GUncertain significance
Select item 1027397	NM_005215.4(DCC):c.3073C>T (p.Arg1025Ter)	DCC (R1025*)	Single nucleotide variant (nonsense)	Mirror movements 1	GPathogenic
Select item 803493	NM_005215.4(DCC):c.601C>G (p.Arg201Gly)	DCC (R201G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 778536	NM_005215.4(DCC):c.2053+9T>C	DCC	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 773345	NM_005215.4(DCC):c.1062C>T (p.Val354=)	DCC	Single nucleotide variant (synonymous variant)	Malignant tumor of esophagus +4 more	GBenign/Likely benign
Select item 714873	NM_005215.4(DCC):c.2158C>T (p.Leu720=)	DCC	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 709096	NM_005215.4(DCC):c.91+7G>A	DCC	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 560075	Single allele	DCC	Duplication	Mirror movements 1	GUncertain significance
Select item 375283	NM_005215.4(DCC):c.2414G>A (p.Gly805Glu)	DCC (G805E)	Single nucleotide variant (missense variant)	Mirror movements 1 +1 more	GPathogenic
Select item 375282	NM_005215.4(DCC):c.2378T>G (p.Val793Gly)	DCC (V793G)	Single nucleotide variant (missense variant)	Mirror movements 1 +1 more	GPathogenic
Select item 375281	NM_005215.4(DCC):c.925del (p.Thr309fs)	DCC (T309fs)	Deletion (frameshift variant)	Mirror movements 1 +1 more	GPathogenic
Select item 187801	NM_005215.3(DCC):c.698-?_985+?del (p.Asp233_Leu328del)	DCC	Deletion	Mirror movements 1	GPathogenic
Select item 187800	NM_005215.4(DCC):c.3836_3837del (p.Leu1279fs)	DCC (L1279fs)	Microsatellite (frameshift variant)	Mirror movements 1	GPathogenic
Select item 187799	NM_005215.4(DCC):c.2873_2877dup (p.Pro960fs)	DCC (P960fs)	Microsatellite (frameshift variant)	Mirror movements 1	Gnot provided
Select item 187798	NM_005215.4(DCC):c.1336_1337insAGCC (p.Arg446fs)	DCC (R446fs)	Insertion (frameshift variant)	Mirror movements 1	Gnot provided
Select item 187797	NM_005215.4(DCC):c.1140+1G>A	DCC	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 187796	NM_005215.4(DCC):c.823C>T (p.Arg275Ter)	DCC (R275*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 187795	NM_005215.4(DCC):c.571dup (p.Val191fs)	DCC (V191fs)	Duplication (frameshift variant)	Mirror movements 1	GPathogenic
Select item 187794	NM_005215.4(DCC):c.377C>A (p.Ser126Ter)	DCC (S126*)	Single nucleotide variant (nonsense)	Mirror movements 1	Gnot provided
Select item 187793	NM_005215.4(DCC):c.2407G>A (p.Gly803Arg)	DCC (G803R)	Single nucleotide variant (missense variant)	Mirror movements 1	GUncertain significance
Select item 187792	NM_005215.4(DCC):c.2105A>G (p.Asn702Ser)	DCC (N702S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 187791	NM_005215.4(DCC):c.2000G>A (p.Arg667His)	DCC (R667H)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 187790	NM_005215.4(DCC):c.1409G>A (p.Gly470Asp)	DCC (G470D)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 187789	NM_005215.4(DCC):c.527A>G (p.Asn176Ser)	DCC (N176S)	Single nucleotide variant (missense variant)	Mirror movements 1	Gnot provided

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Items: 41