"GeneDx"[submitter] AND "DSC3"[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60207	GRCh38/hg38 18q12.1(chr18:29444510-31247986)x3	DSC1, DSC2 +9 more	Copy number gain	See cases	GUncertain significance
Select item 1253461	NM_001941.5(DSC3):c.259_260dup	DSC3	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1242844	NM_001941.5(DSC3):c.*260dup	DSC3	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1221013	NM_001941.5(DSC3):c.*144A>G	DSC3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1276898	NM_001941.5(DSC3):c.2494-134C>T	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287128	NM_001941.5(DSC3):c.2494-176del	DSC3	Deletion (intron variant)	not provided	GBenign
Select item 1266158	NM_001941.5(DSC3):c.2494-219A>C	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233670	NM_001941.5(DSC3):c.2493+224T>G	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267408	NM_001941.5(DSC3):c.2457G>A (p.Ser819=)	DSC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1240769	NM_001941.5(DSC3):c.2236-265G>C	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290529	NM_001941.5(DSC3):c.2236-301G>T	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290685	NM_001941.5(DSC3):c.2235+142A>G	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270107	NM_001941.5(DSC3):c.2113+238A>G	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290445	NM_001941.5(DSC3):c.2113+170A>C	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241095	NM_001941.5(DSC3):c.2113+127A>G	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236753	NM_001941.5(DSC3):c.2113+81G>T	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274578	NM_001941.5(DSC3):c.1889-224C>A	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260749	NM_001941.5(DSC3):c.1888+327T>C	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242124	NM_001941.5(DSC3):c.1888+253A>G	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288388	NM_001941.5(DSC3):c.1797T>C (p.Pro599=)	DSC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1240668	NM_001941.5(DSC3):c.1664-83A>G	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267666	NM_001941.5(DSC3):c.1664-180G>C	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1310015	NM_001941.5(DSC3):c.1511A>G (p.Asn504Ser)	DSC3 (N504S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1263224	NM_001941.5(DSC3):c.1264-46G>A	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231814	NM_001941.5(DSC3):c.1264-245G>A	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 58324	GRCh38/hg38 18q12.1(chr18:31016495-31171928)x1	DSC1, DSC2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 1242561	NM_001941.5(DSC3):c.1263+106A>G	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2054815	NM_001941.5(DSC3):c.1225_1228del (p.Asp409fs)	DSC3 (D409fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 1236545	NM_001941.5(DSC3):c.943-86_943-85del	DSC3	Microsatellite (intron variant)	not provided	GBenign
Select item 1221885	NM_001941.5(DSC3):c.943-106CA[2]	DSC3	Microsatellite (intron variant)	not provided	GBenign
Select item 1271890	NM_001941.5(DSC3):c.943-312G>A	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230155	NM_001941.5(DSC3):c.942+118T>C	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250516	NM_001941.5(DSC3):c.942+18T>C	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295632	NM_001941.5(DSC3):c.776-300G>T	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269085	NM_001941.5(DSC3):c.775+211C>T	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273415	NM_001941.5(DSC3):c.630+234A>T	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239294	NM_001941.5(DSC3):c.630+11T>A	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295636	NM_001941.5(DSC3):c.475-229A>G	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288248	NM_001941.5(DSC3):c.474+271A>G	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182337	NM_001941.5(DSC3):c.474+255G>A	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295639	NM_001941.5(DSC3):c.355-176G>A	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257911	NM_001941.5(DSC3):c.354+62T>G	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257293	NM_001941.5(DSC3):c.354+52T>C	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243193	NM_001941.5(DSC3):c.354+32dup	DSC3	Duplication (intron variant)	not provided	GBenign
Select item 1295645	NM_001941.5(DSC3):c.305G>A (p.Arg102Lys)	DSC3 (R102K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1248384	NM_001941.5(DSC3):c.232T>A (p.Ser78Thr)	DSC3 (S78T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 402800	NM_001941.5(DSC3):c.155-1=	DSC3	Single nucleotide variant (splice acceptor variant)	not specified +1 more	GBenign
Select item 1280328	NM_001941.5(DSC3):c.155-282del	DSC3	Deletion (intron variant)	not provided	GBenign
Select item 1268029	NM_001941.5(DSC3):c.83C>A (p.Ala28Asp)	DSC3 (A28D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1275976	NM_001941.5(DSC3):c.70-278_70-277del	DSC3	Deletion (intron variant)	not provided	GBenign
Select item 1274546	NM_001941.5(DSC3):c.70-278T>C	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274808	NM_001941.5(DSC3):c.69+34G>A	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245157	NC_000018.10:g.31043005G>C	DSC3	Single nucleotide variant	not provided	GBenign
Select item 1227860	NC_000018.10:g.31043035G>A	DSC3	Single nucleotide variant	not provided	GBenign
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

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Items: 56