"GeneDx"[submitter] AND "DCC"[gene] - ClinVar

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Search results

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	ALPK2, ATP8B1 +340 more	Copy number loss	See cases	GPathogenic
Select item 1305425	NM_005215.4(DCC):c.163G>C (p.Gly55Arg)	DCC (G55R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2386158	NM_005215.4(DCC):c.250G>A (p.Gly84Arg)	DCC (G84R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1804232	NM_005215.4(DCC):c.532C>G (p.Gln178Glu)	DCC (Q178E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 803493	NM_005215.4(DCC):c.601C>G (p.Arg201Gly)	DCC (R201G)	Single nucleotide variant (missense variant)	Mirror movements 1 +2 more	GBenign
Select item 1311001	NM_005215.4(DCC):c.628T>G (p.Tyr210Asp)	DCC (Y210D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504683	NM_005215.4(DCC):c.632G>C (p.Arg211Pro)	DCC (R211P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662231	NM_005215.4(DCC):c.709C>A (p.His237Asn)	DCC (H237N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442734	NM_005215.4(DCC):c.743A>G (p.Asn248Ser)	DCC (N248S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312381	NM_005215.4(DCC):c.793G>A (p.Gly265Ser)	DCC (G265S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504839	NM_005215.4(DCC):c.840C>G (p.Ile280Met)	DCC (I280M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1177892	NM_005215.4(DCC):c.848+13T>G	DCC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3373266	NM_005215.4(DCC):c.849G>A (p.Arg283=)	DCC	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1309019	NM_005215.4(DCC):c.1054T>C (p.Cys352Arg)	DCC (C352R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306650	NM_005215.4(DCC):c.1060G>A (p.Val354Ile)	DCC (V354I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1204338	NM_005215.4(DCC):c.1084G>A (p.Val362Met)	DCC (V362M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446590	NM_005215.4(DCC):c.1117C>T (p.Pro373Ser)	DCC (P373S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 187797	NM_005215.4(DCC):c.1140+1G>A	DCC	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3343600	NM_005215.4(DCC):c.1198T>C (p.Cys400Arg)	DCC (C400R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503235	NM_005215.4(DCC):c.1268C>G (p.Pro423Arg)	DCC (P423R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343379	NM_005215.4(DCC):c.1322C>T (p.Ser441Phe)	DCC (S441F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373353	NM_005215.4(DCC):c.1420G>C (p.Glu474Gln)	DCC (E474Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663565	NM_005215.4(DCC):c.1508T>C (p.Val503Ala)	DCC (V503A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252379	NM_005215.4(DCC):c.1754T>A (p.Leu585Gln)	DCC (L585Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370764	NM_005215.4(DCC):c.1766A>T (p.Lys589Ile)	DCC (K589I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426741	NM_005215.4(DCC):c.1789C>T (p.Arg597Ter)	DCC (R597*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3365981	NM_005215.4(DCC):c.1838T>C (p.Ile613Thr)	DCC (I613T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 489193	NM_005215.4(DCC):c.1911+1G>C	DCC	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3368988	NM_005215.4(DCC):c.1964T>G (p.Ile655Ser)	DCC (I655S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364737	NM_005215.4(DCC):c.2071C>G (p.Gln691Glu)	DCC (Q691E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 187792	NM_005215.4(DCC):c.2105A>G (p.Asn702Ser)	DCC (N702S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3342508	NM_005215.4(DCC):c.2177C>T (p.Pro726Leu)	DCC (P726L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313318	NM_005215.4(DCC):c.2212A>G (p.Thr738Ala)	DCC (T738A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312382	NM_005215.4(DCC):c.2576C>T (p.Ala859Val)	DCC (A859V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252665	NM_005215.4(DCC):c.2617C>A (p.Gln873Lys)	DCC (Q873K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581941	NM_005215.4(DCC):c.2676T>G (p.Ser892Arg)	DCC (S892R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698153	NM_005215.4(DCC):c.2913G>C (p.Leu971Phe)	DCC (L971F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579758	NM_005215.4(DCC):c.3056A>G (p.Tyr1019Cys)	DCC (Y1019C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1255457	NM_005215.4(DCC):c.3108T>C (p.Pro1036=)	DCC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1255458	NM_005215.4(DCC):c.3130+10A>G	DCC	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2442720	NM_005215.4(DCC):c.3199A>G (p.Thr1067Ala)	DCC (T1067A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2366933	NM_005215.4(DCC):c.3238A>G (p.Ile1080Val)	DCC (I1080V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1708738	NM_005215.4(DCC):c.3238A>T (p.Ile1080Phe)	DCC (I1080F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373142	NM_005215.4(DCC):c.3242G>A (p.Gly1081Glu)	DCC (G1081E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2662289	NM_005215.4(DCC):c.3271A>T (p.Thr1091Ser)	DCC (T1091S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253148	NM_005215.4(DCC):c.3425A>G (p.Lys1142Arg)	DCC (K1142R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253526	NM_005215.4(DCC):c.3446G>T (p.Arg1149Leu)	DCC (R1149L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503376	NM_005215.4(DCC):c.3506C>G (p.Ser1169Cys)	DCC (S1169C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723498	NM_005215.4(DCC):c.3529G>C (p.Asp1177His)	DCC (D1177H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306793	NM_005215.4(DCC):c.3620-2A>G	DCC	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GUncertain significance
Select item 1308083	NM_005215.4(DCC):c.3779A>G (p.Gln1260Arg)	DCC (Q1260R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313242	NM_005215.4(DCC):c.3931C>T (p.Pro1311Ser)	DCC (P1311S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308082	NM_005215.4(DCC):c.4058C>T (p.Pro1353Leu)	DCC (P1353L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136233	NM_005215.4(DCC):c.4079A>C (p.Lys1360Thr)	DCC (K1360T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504815	NM_005215.4(DCC):c.4186C>T (p.Pro1396Ser)	DCC (P1396S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3028994	NM_005215.4(DCC):c.4211_4215dup (p.Ser1406fs)	DCC (S1406fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1312241	NM_005215.4(DCC):c.4229A>G (p.His1410Arg)	DCC (H1410R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804395	NM_005215.4(DCC):c.4254T>A (p.Asn1418Lys)	DCC (N1418K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449620	NM_005215.4(DCC):c.4254+3A>G	DCC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic
Select item 3359795	NM_005215.4(DCC):c.851C>T (p.Ser284Phe)	DCC (S284F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 62