DSC3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	ABHD3, ANKRD29 +282 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 151144	GRCh38/hg38 18q12.1(chr18:29365057-31236305)x1	DSC1, DSC2 +10 more	Copy number loss	See cases	GPathogenic
Select item 60207	GRCh38/hg38 18q12.1(chr18:29444510-31247986)x3	DSC1, DSC2 +9 more	Copy number gain	See cases	GUncertain significance
Select item 57393	GRCh38/hg38 18q12.1-12.3(chr18:29444510-40403652)x1	ASXL3, B4GALT6 +167 more	Copy number loss	See cases	GPathogenic
Select item 60208	GRCh38/hg38 18q12.1(chr18:29879161-31727247)x3	B4GALT6, DSC1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 152370	GRCh38/hg38 18q12.1(chr18:30496396-31108811)x3	DSC2, DSC3 +2 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 2219564	NM_001941.5(DSC3):c.2494-108A>C	DSC3 (H837P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483067	NM_001941.5(DSC3):c.2494-114G>C	DSC3 (R835T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1050204	NM_001941.5(DSC3):c.2493+1G>A	DSC3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 714748	NM_001941.5(DSC3):c.2488G>A (p.Gly830Ser)	DSC3 (G830S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3273794	NM_001941.5(DSC3):c.2482C>T (p.Arg828Cys)	DSC3 (R828C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1267408	NM_001941.5(DSC3):c.2457G>A (p.Ser819=)	DSC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2554049	NM_001941.5(DSC3):c.2402T>G (p.Leu801Arg)	DSC3 (L801R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 764893	NM_001941.5(DSC3):c.2383dup (p.Ala795fs)	DSC3 (A795fs)	Duplication (frameshift variant)	not provided	GLikely benign
Select item 3085866	NM_001941.5(DSC3):c.2378G>T (p.Arg793Leu)	DSC3 (R793L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273797	NM_001941.5(DSC3):c.2336T>C (p.Ile779Thr)	DSC3 (I779T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273799	NM_001941.5(DSC3):c.2305T>C (p.Ser769Pro)	DSC3 (S769P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2072986	NM_001941.5(DSC3):c.2236-1G>T	DSC3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2077763	NM_001941.5(DSC3):c.2236-2A>G	DSC3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 3085865	NM_001941.5(DSC3):c.2228A>T (p.Asp743Val)	DSC3 (D743V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212163	NM_001941.5(DSC3):c.2227G>A (p.Asp743Asn)	DSC3 (D743N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033281	NM_001941.5(DSC3):c.2218C>T (p.Pro740Ser)	DSC3 (P740S)	Single nucleotide variant (missense variant)	DSC3-related disorder	GLikely benign
Select item 1065567	NM_001941.5(DSC3):c.2180T>G (p.Leu727Ter)	DSC3 (L727*)	Single nucleotide variant (nonsense)	Hereditary hypotrichosis with recurrent skin vesicles	GPathogenic
Select item 2484870	NM_001941.5(DSC3):c.2167T>C (p.Phe723Leu)	DSC3 (F723L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593107	NM_001941.5(DSC3):c.2165G>A (p.Arg722His)	DSC3 (R722H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085864	NM_001941.5(DSC3):c.2164C>T (p.Arg722Cys)	DSC3 (R722C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 9231	NM_001941.5(DSC3):c.2129T>G (p.Leu710Ter)	DSC3 (L710*)	Single nucleotide variant (nonsense)	Hereditary hypotrichosis with recurrent skin vesicles	GPathogenic
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 3273800	NM_001941.5(DSC3):c.2105T>A (p.Leu702Gln)	DSC3 (L702Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273793	NM_001941.5(DSC3):c.1943T>C (p.Ile648Thr)	DSC3 (I648T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085863	NM_001941.5(DSC3):c.1942A>G (p.Ile648Val)	DSC3 (I648V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2214547	NM_001941.5(DSC3):c.1900C>T (p.Arg634Cys)	DSC3 (R634C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3085862	NM_001941.5(DSC3):c.1850C>T (p.Pro617Leu)	DSC3 (P617L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330066	NM_001941.5(DSC3):c.1826A>G (p.Tyr609Cys)	DSC3 (Y609C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085860	NM_001941.5(DSC3):c.1825T>G (p.Tyr609Asp)	DSC3 (Y609D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085859	NM_001941.5(DSC3):c.1811A>G (p.His604Arg)	DSC3 (H604R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1288388	NM_001941.5(DSC3):c.1797T>C (p.Pro599=)	DSC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2320379	NM_001941.5(DSC3):c.1670G>T (p.Arg557Ile)	DSC3 (R557I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2317967	NM_001941.5(DSC3):c.1634A>G (p.Tyr545Cys)	DSC3 (Y545C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085858	NM_001941.5(DSC3):c.1627G>C (p.Glu543Gln)	DSC3 (E543Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050367	NM_001941.5(DSC3):c.1608G>A (p.Glu536=)	DSC3	Single nucleotide variant (synonymous variant)	DSC3-related disorder	GLikely benign
Select item 2484056	NM_001941.5(DSC3):c.1595T>A (p.Ile532Asn)	DSC3 (I532N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617220	NM_001941.5(DSC3):c.1585A>G (p.Thr529Ala)	DSC3 (T529A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513744	NM_001941.5(DSC3):c.1547G>T (p.Gly516Val)	DSC3 (G516V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2681249	NM_001941.5(DSC3):c.1473C>T (p.Asn491=)	DSC3	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3085856	NM_001941.5(DSC3):c.1436G>A (p.Arg479Gln)	DSC3 (R479Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341852	NM_001941.5(DSC3):c.1406C>T (p.Pro469Leu)	DSC3 (P469L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085855	NM_001941.5(DSC3):c.1387A>G (p.Arg463Gly)	DSC3 (R463G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085854	NM_001941.5(DSC3):c.1379T>C (p.Val460Ala)	DSC3 (V460A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273798	NM_001941.5(DSC3):c.1364G>C (p.Arg455Thr)	DSC3 (R455T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303925	NM_001941.5(DSC3):c.1335A>C (p.Arg445Ser)	DSC3 (R445S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085853	NM_001941.5(DSC3):c.1322C>T (p.Ala441Val)	DSC3 (A441V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2354413	NM_001941.5(DSC3):c.1294A>G (p.Asn432Asp)	DSC3 (N432D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2441782	NM_001941.5(DSC3):c.1123C>T (p.Arg375Ter)	DSC3 (R375*)	Single nucleotide variant (nonsense)	Hereditary hypotrichosis with recurrent skin vesicles	GLikely pathogenic
Select item 2601489	NM_001941.5(DSC3):c.1118T>C (p.Ile373Thr)	DSC3 (I373T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306322	NM_001941.5(DSC3):c.1111G>A (p.Val371Met)	DSC3 (V371M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273792	NM_001941.5(DSC3):c.1075G>T (p.Ala359Ser)	DSC3 (A359S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273801	NM_001941.5(DSC3):c.1022G>C (p.Cys341Ser)	DSC3 (C341S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040227	NM_001941.5(DSC3):c.972A>G (p.Lys324=)	DSC3	Single nucleotide variant (synonymous variant)	DSC3-related disorder	GLikely benign
Select item 3085870	NM_001941.5(DSC3):c.969G>A (p.Met323Ile)	DSC3 (M323I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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

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