1830[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 143

<< First< Prev

Page of 2

	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 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 152371	GRCh38/hg38 18q12.1(chr18:31173251-31677694)x3	B4GALT6, DSG1 +21 more	Copy number gain	See cases	GUncertain significance
Select item 150285	GRCh38/hg38 18q12.1(chr18:31318837-31586401)x3	DSG1, DSG1-AS1 +12 more	Copy number gain	See cases	GLikely benign
Select item 1283575	NC_000018.10:g.31447438C>T	DSG3	Single nucleotide variant	not provided	GBenign
Select item 1225011	NM_001944.3(DSG3):c.-96C>T	DSG3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1267671	NM_001944.3(DSG3):c.-84C>T	DSG3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1183480	NM_001944.3(DSG3):c.-70C>T	DSG3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2388495	NM_001944.3(DSG3):c.5T>C (p.Met2Thr)	DSG3 (M2T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1174288	NM_001944.3(DSG3):c.48+296C>G	DSG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182152	NM_001944.3(DSG3):c.49-87A>G	DSG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284172	NM_001944.3(DSG3):c.85-114C>G	DSG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2462610	NM_001944.3(DSG3):c.142A>G (p.Lys48Glu)	DSG3 (K48E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1228227	NM_001944.3(DSG3):c.216+44T>C	DSG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247017	NM_001944.3(DSG3):c.216+329A>T	DSG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285963	NM_001944.3(DSG3):c.217-285A>C	DSG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288881	NM_001944.3(DSG3):c.217-145G>A	DSG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275634	NM_001944.3(DSG3):c.217-92T>C	DSG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3085955	NM_001944.3(DSG3):c.335C>A (p.Thr112Lys)	DSG3 (T112K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554051	NM_001944.3(DSG3):c.340A>G (p.Ile114Val)	DSG3 (I114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553421	NM_001944.3(DSG3):c.341T>C (p.Ile114Thr)	DSG3 (I114T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1277439	NM_001944.3(DSG3):c.345C>T (p.Val115=)	DSG3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3085956	NM_001944.3(DSG3):c.346G>C (p.Asp116His)	DSG3 (D116H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561129	NM_001944.3(DSG3):c.350G>A (p.Arg117Gln)	DSG3 (R117Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1290846	NM_001944.3(DSG3):c.372+203G>A	DSG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3273863	NM_001944.3(DSG3):c.382C>T (p.Arg128Trp)	DSG3 (R128W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468632	NM_001944.3(DSG3):c.486C>A (p.Phe162Leu)	DSG3 (F162L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546205	NM_001944.3(DSG3):c.512C>A (p.Ala171Asp)	DSG3 (A171D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1287909	NM_001944.3(DSG3):c.517+143G>A	DSG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290293	NM_001944.3(DSG3):c.518-47T>C	DSG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3065739	NM_001944.3(DSG3):c.518-1G>A	DSG3	Single nucleotide variant (splice acceptor variant)	Blistering, acantholytic, of oral and laryngeal mucosa	GUncertain significance
Select item 2339947	NM_001944.3(DSG3):c.563A>T (p.Asn188Ile)	DSG3 (N188I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771505	NM_001944.3(DSG3):c.656G>T (p.Arg219Leu)	DSG3 (R219L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 715176	NM_001944.3(DSG3):c.679C>A (p.Arg227=)	DSG3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3085957	NM_001944.3(DSG3):c.682G>A (p.Glu228Lys)	DSG3 (E228K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1226959	NM_001944.3(DSG3):c.685-40T>A	DSG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2601025	NM_001944.3(DSG3):c.700C>T (p.Arg234Cys)	DSG3 (R234C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349495	NM_001944.3(DSG3):c.757T>C (p.Cys253Arg)	DSG3 (C253R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085958	NM_001944.3(DSG3):c.767A>C (p.Lys256Thr)	DSG3 (K256T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085959	NM_001944.3(DSG3):c.823C>G (p.Arg275Gly)	DSG3 (R275G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328986	NM_001944.3(DSG3):c.827T>C (p.Ile276Thr)	DSG3 (I276T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1013500	NM_001944.3(DSG3):c.859C>T (p.Arg287Ter)	DSG3 (R287*)	Single nucleotide variant (nonsense)	Blistering, acantholytic, of oral and laryngeal mucosa	GPathogenic
Select item 3085960	NM_001944.3(DSG3):c.929G>A (p.Gly310Glu)	DSG3 (G310E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367010	NM_001944.3(DSG3):c.938G>A (p.Gly313Glu)	DSG3 (G313E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227560	NM_001944.3(DSG3):c.964C>A (p.Pro322Thr)	DSG3 (P322T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384928	NM_001944.3(DSG3):c.978A>T (p.Glu326Asp)	DSG3 (E326D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1278271	NM_001944.3(DSG3):c.999+35T>A	DSG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3085946	NM_001944.3(DSG3):c.1026C>A (p.Ser342Arg)	DSG3 (S342R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333225	NM_001944.3(DSG3):c.1151G>A (p.Arg384His)	DSG3 (R384H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589579	NM_001944.3(DSG3):c.1214T>A (p.Ile405Asn)	DSG3 (I405N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1250762	NM_001944.3(DSG3):c.1272-179dup	DSG3	Duplication (intron variant)	not provided	GBenign
Select item 1257299	NM_001944.3(DSG3):c.1272-24G>A	DSG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3085947	NM_001944.3(DSG3):c.1355G>A (p.Arg452Gln)	DSG3 (R452Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1256671	NM_001944.3(DSG3):c.1412-348T>C	DSG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249073	NM_001944.3(DSG3):c.1412-301C>T	DSG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271055	NM_001944.3(DSG3):c.1412-95G>A	DSG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287942	NM_001944.3(DSG3):c.1412-92T>C	DSG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277402	NM_001944.3(DSG3):c.1412-63T>G	DSG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2286457	NM_001944.3(DSG3):c.1421G>A (p.Gly474Asp)	DSG3 (G474D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1253293	NM_001944.3(DSG3):c.1525G>A (p.Val509Met)	DSG3 (V509M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2369976	NM_001944.3(DSG3):c.1537G>A (p.Ala513Thr)	DSG3 (A513T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085948	NM_001944.3(DSG3):c.1612G>A (p.Val538Ile)	DSG3 (V538I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1250852	NM_001944.3(DSG3):c.1636+250T>C	DSG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267314	NM_001944.3(DSG3):c.1637-34C>T	DSG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2217551	NM_001944.3(DSG3):c.1643C>T (p.Ser548Leu)	DSG3 (S548L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365361	NM_001944.3(DSG3):c.1672C>A (p.Pro558Thr)	DSG3 (P558T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465738	NM_001944.3(DSG3):c.1673C>G (p.Pro558Arg)	DSG3 (P558R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597307	NM_001944.3(DSG3):c.1690A>G (p.Ile564Val)	DSG3 (I564V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 782045	NM_001944.3(DSG3):c.1723C>T (p.Arg575Trp)	DSG3 (R575W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2293223	NM_001944.3(DSG3):c.1799C>T (p.Pro600Leu)	DSG3 (P600L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559913	NM_001944.3(DSG3):c.1889T>A (p.Leu630Gln)	DSG3 (L630Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1179510	NM_001944.3(DSG3):c.1897+60A>G	DSG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2277570	NM_001944.3(DSG3):c.1898T>C (p.Leu633Ser)	DSG3 (L633S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251873	NM_001944.3(DSG3):c.1927T>G (p.Cys643Gly)	DSG3 (C643G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085949	NM_001944.3(DSG3):c.1951G>A (p.Val651Met)	DSG3 (V651M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085950	NM_001944.3(DSG3):c.1957G>A (p.Gly653Ser)	DSG3 (G653S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085951	NM_001944.3(DSG3):c.1979A>G (p.Asp660Gly)	DSG3 (D660G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1272728	NM_001944.3(DSG3):c.2101+132G>C	DSG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233714	NM_001944.3(DSG3):c.2101+253A>C	DSG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222303	NM_001944.3(DSG3):c.2102-208T>C	DSG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2348311	NM_001944.3(DSG3):c.2207G>C (p.Gly736Ala)	DSG3 (G736A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733031	NM_001944.3(DSG3):c.2208C>T (p.Gly736=)	DSG3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2589525	NM_001944.3(DSG3):c.2333A>T (p.Asp778Val)	DSG3 (D778V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273864	NM_001944.3(DSG3):c.2348C>T (p.Ala783Val)	DSG3 (A783V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331705	NM_001944.3(DSG3):c.2384A>T (p.Gln795Leu)	DSG3 (Q795L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1174230	NM_001944.3(DSG3):c.2386-141T>C	DSG3	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 2