147409[geneid] - 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 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 889236	NM_177986.5(DSG4):c.-133C>T	DSG1-AS1, DSG4	Single nucleotide variant (5 prime UTR variant)	Hypotrichosis 6	GUncertain significance
Select item 326408	NM_177986.5(DSG4):c.-101T>A	DSG1-AS1, DSG4	Single nucleotide variant (5 prime UTR variant)	Hypotrichosis 6	GUncertain significance
Select item 326409	NM_177986.5(DSG4):c.-88A>G	DSG1-AS1, DSG4	Single nucleotide variant (5 prime UTR variant)	Hypotrichosis 6	GUncertain significance
Select item 326410	NM_177986.5(DSG4):c.-66G>A	DSG1-AS1, DSG4	Single nucleotide variant (5 prime UTR variant)	Hypotrichosis 6	GUncertain significance
Select item 326411	NM_177986.5(DSG4):c.-52G>A	DSG1-AS1, DSG4	Single nucleotide variant (5 prime UTR variant)	Hypotrichosis 6	GUncertain significance
Select item 889914	NM_177986.5(DSG4):c.-43A>C	DSG1-AS1, DSG4	Single nucleotide variant (5 prime UTR variant)	Hypotrichosis 6	GUncertain significance
Select item 326412	NM_177986.5(DSG4):c.-43A>G	DSG1-AS1, DSG4	Single nucleotide variant (5 prime UTR variant)	Hypotrichosis 6	GUncertain significance
Select item 326413	NM_177986.5(DSG4):c.-16A>G	DSG1-AS1, DSG4	Single nucleotide variant (5 prime UTR variant)	Hypotrichosis 6	GUncertain significance
Select item 326414	NM_177986.5(DSG4):c.-10A>G	DSG1-AS1, DSG4	Single nucleotide variant (5 prime UTR variant)	Hypotrichosis 6	GUncertain significance
Select item 2394940	NM_177986.5(DSG4):c.18C>A (p.Phe6Leu)	DSG1-AS1, DSG4 (F6L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 326415	NM_177986.5(DSG4):c.21A>G (p.Arg7=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 326416	NM_177986.5(DSG4):c.30C>T (p.Cys10=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1241012	NM_177986.5(DSG4):c.48+150A>T	DSG1-AS1, DSG4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231139	NM_177986.5(DSG4):c.49-239T>C	DSG1-AS1, DSG4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3085976	NM_177986.5(DSG4):c.49G>A (p.Val17Met)	DSG1-AS1, DSG4 (V17M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2074327	NM_177986.5(DSG4):c.51G>A (p.Val17=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 992347	NM_177986.5(DSG4):c.82G>T (p.Glu28Ter)	DSG1-AS1, DSG4 (E28*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1275488	NM_177986.5(DSG4):c.85-133G>C	DSG1-AS1, DSG4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2720	NM_177986.5(DSG4):c.87del (p.Lys30fs)	DSG1-AS1, DSG4 (K30fs)	Deletion (frameshift variant)	Hypotrichosis 6	GLikely pathogenic
Select item 2400701	NM_177986.5(DSG4):c.100A>G (p.Ile34Val)	DSG1-AS1, DSG4 (I34V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2502918	NM_177986.5(DSG4):c.126_129del (p.Thr43fs)	DSG1-AS1, DSG4 (T43fs)	Deletion (frameshift variant)	Hypotrichosis 6	GPathogenic
Select item 2074248	NM_177986.5(DSG4):c.129A>C (p.Thr43=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 326417	NM_177986.5(DSG4):c.176G>A (p.Arg59Gln)	DSG1-AS1, DSG4 (R59Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2056287	NM_177986.5(DSG4):c.196A>G (p.Lys66Glu)	DSG1-AS1, DSG4 (K66E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2398309	NM_177986.5(DSG4):c.202A>G (p.Asn68Asp)	DSG1-AS1, DSG4 (N68D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523847	NM_177986.5(DSG4):c.208A>G (p.Ile70Val)	DSG1-AS1, DSG4 (I70V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2420482	NM_177986.5(DSG4):c.216A>G (p.Lys72=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2723	NM_177986.5(DSG4):c.216+1G>T	DSG1-AS1, DSG4	Single nucleotide variant (splice donor variant)	Hypotrichosis 6	GPathogenic
Select item 3057986	NM_177986.5(DSG4):c.216+7G>A	DSG1-AS1, DSG4	Single nucleotide variant (intron variant)	DSG4-related disorder	GLikely benign
Select item 779466	NM_177986.5(DSG4):c.236C>T (p.Ser79Leu)	DSG1-AS1, DSG4 (S79L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 326418	NM_177986.5(DSG4):c.258G>A (p.Arg86=)	DSG4, DSG1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 326419	NM_177986.5(DSG4):c.259A>C (p.Ile87Leu)	DSG1-AS1, DSG4 (I87L)	Single nucleotide variant (missense variant)	Hypotrichosis 6	GUncertain significance
Select item 3085971	NM_177986.5(DSG4):c.268G>A (p.Val90Ile)	DSG1-AS1, DSG4 (V90I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2418503	NM_177986.5(DSG4):c.314G>A (p.Arg105His)	DSG1-AS1, DSG4 (R105H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2537085	NM_177986.5(DSG4):c.347A>G (p.Asp116Gly)	DSG1-AS1, DSG4 (D116G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2719	NM_177986.5(DSG4):c.373-32_1005+292del	DSG1-AS1, DSG4	Deletion (splice acceptor variant +1 more)	Hypotrichosis 6	GPathogenic
Select item 2362122	NM_177986.5(DSG4):c.377A>G (p.Tyr126Cys)	DSG1-AS1, DSG4 (Y126C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242087	NM_177986.5(DSG4):c.386_400del (p.Ala129_Arg133del)	DSG1-AS1, DSG4	Deletion (inframe_deletion)	Hypotrichosis 6	GUncertain significance
Select item 891462	NM_177986.5(DSG4):c.398G>A (p.Arg133Gln)	DSG1-AS1, DSG4 (R133Q)	Single nucleotide variant (missense variant)	Hypotrichosis 6	GUncertain significance
Select item 326420	NM_177986.5(DSG4):c.417G>C (p.Arg139Ser)	DSG4, DSG1-AS1 (R139S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 891463	NM_177986.5(DSG4):c.428T>G (p.Leu143Arg)	DSG1-AS1, DSG4 (L143R)	Single nucleotide variant (missense variant)	Hypotrichosis 6	GUncertain significance
Select item 777289	NM_177986.5(DSG4):c.460G>A (p.Ala154Thr)	DSG1-AS1, DSG4 (A154T)	Single nucleotide variant (missense variant)	Hypotrichosis 6 +1 more	GBenign/Likely benign
Select item 891464	NM_177986.5(DSG4):c.474G>T (p.Ser158=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	Hypotrichosis 6	GUncertain significance
Select item 326421	NM_177986.5(DSG4):c.495C>T (p.Ser165=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3085975	NM_177986.5(DSG4):c.497T>C (p.Ile166Thr)	DSG1-AS1, DSG4 (I166T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1929691	NM_177986.5(DSG4):c.498T>G (p.Ile166Met)	DSG1-AS1, DSG4 (I166M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 891721	NM_177986.5(DSG4):c.517+7A>T	DSG1-AS1, DSG4	Single nucleotide variant (intron variant)	Hypotrichosis 6	GUncertain significance
Select item 3036597	NM_177986.5(DSG4):c.517+8G>A	DSG1-AS1, DSG4	Single nucleotide variant (intron variant)	DSG4-related disorder	GLikely benign
Select item 1177833	NM_177986.5(DSG4):c.517+27C>T	DSG1-AS1, DSG4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226462	NM_177986.5(DSG4):c.517+37T>G	DSG1-AS1, DSG4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264981	NM_177986.5(DSG4):c.517+63T>C	DSG1-AS1, DSG4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225085	NM_177986.5(DSG4):c.518-94G>A	DSG1-AS1, DSG4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2721	NM_177986.5(DSG4):c.574T>C (p.Ser192Pro)	DSG1-AS1, DSG4 (S192P)	Single nucleotide variant (missense variant)	Hypotrichosis 6	GPathogenic
Select item 3085977	NM_177986.5(DSG4):c.581T>C (p.Ile194Thr)	DSG1-AS1, DSG4 (I194T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 326422	NM_177986.5(DSG4):c.587A>G (p.Tyr196Cys)	DSG1-AS1, DSG4 (Y196C)	Single nucleotide variant (missense variant)	Hypotrichosis 6	GUncertain significance
Select item 326423	NM_177986.5(DSG4):c.590A>G (p.Lys197Arg)	DSG1-AS1, DSG4 (K197R)	Single nucleotide variant (missense variant)	Hypotrichosis 6	GUncertain significance
Select item 2211872	NM_177986.5(DSG4):c.595G>A (p.Val199Ile)	DSG1-AS1, DSG4 (V199I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2269174	NM_177986.5(DSG4):c.623T>C (p.Met208Thr)	DSG1-AS1, DSG4 (M208T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2476367	NM_177986.5(DSG4):c.625T>C (p.Phe209Leu)	DSG1-AS1, DSG4 (F209L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 326424	NM_177986.5(DSG4):c.628A>T (p.Ile210Phe)	DSG1-AS1, DSG4 (I210F)	Single nucleotide variant (missense variant)	Hypotrichosis 6	GUncertain significance
Select item 3045681	NM_177986.5(DSG4):c.678C>T (p.Asp226=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	DSG4-related disorder	GLikely benign
Select item 1248016	NM_177986.5(DSG4):c.685-59G>A	DSG1-AS1, DSG4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2217665	NM_177986.5(DSG4):c.713G>C (p.Arg238Thr)	DSG1-AS1, DSG4 (R238T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 326425	NM_177986.5(DSG4):c.715G>A (p.Gly239Ser)	DSG1-AS1, DSG4 (G239S)	Single nucleotide variant (missense variant)	Hypotrichosis 6	GUncertain significance
Select item 2187457	NM_177986.5(DSG4):c.737C>T (p.Ala246Val)	DSG1-AS1, DSG4 (A246V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2725	NM_177986.5(DSG4):c.763del (p.Cys255fs)	DSG1-AS1, DSG4 (C255fs)	Deletion (frameshift variant)	Hypotrichosis 6	GPathogenic
Select item 2724	NM_177986.5(DSG4):c.800C>G (p.Pro267Arg)	DSG1-AS1, DSG4 (P267R)	Single nucleotide variant (missense variant)	Hypotrichosis 6	GPathogenic
Select item 1976210	NM_177986.5(DSG4):c.816T>G (p.Thr272=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1295148	NM_177986.5(DSG4):c.819+309G>A	DSG1-AS1, DSG4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 152559	GRCh38/hg38 18q12.1(chr18:31392177-31439972)x1	DSG1-AS1, DSG4 +2 more	Copy number loss	See cases	GBenign
Select item 326426	NM_177986.5(DSG4):c.855G>A (p.Ser285=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	Hypotrichosis 6 +1 more	GBenign/Likely benign
Select item 2726	NM_177986.5(DSG4):c.865C>T (p.Arg289Ter)	DSG1-AS1, DSG4 (R289*)	Single nucleotide variant (nonsense)	Hypotrichosis 6	GPathogenic
Select item 2599714	NM_177986.5(DSG4):c.884T>C (p.Leu295Pro)	DSG1-AS1, DSG4 (L295P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220205	NM_177986.5(DSG4):c.892G>A (p.Glu298Lys)	DSG1-AS1, DSG4 (E298K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 326427	NM_177986.5(DSG4):c.919T>G (p.Tyr307Asp)	DSG1-AS1, DSG4 (Y307D)	Single nucleotide variant (missense variant)	Hypotrichosis 6 +1 more	GUncertain significance
Select item 326428	NM_177986.5(DSG4):c.920A>G (p.Tyr307Cys)	DSG1-AS1, DSG4 (Y307C)	Single nucleotide variant (missense variant)	Hypotrichosis 6	GUncertain significance
Select item 326429	NM_177986.5(DSG4):c.928C>A (p.Leu310Ile)	DSG1-AS1, DSG4 (L310I)	Single nucleotide variant (missense variant)	Hypotrichosis 6	GUncertain significance
Select item 889292	NM_177986.5(DSG4):c.930C>T (p.Leu310=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	Hypotrichosis 6	GUncertain significance
Select item 2398310	NM_177986.5(DSG4):c.935G>A (p.Gly312Glu)	DSG1-AS1, DSG4 (G312E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261715	NM_177986.5(DSG4):c.946A>G (p.Asn316Asp)	DSG1-AS1, DSG4 (N316D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 326430	NM_177986.5(DSG4):c.955G>A (p.Asp319Asn)	DSG1-AS1, DSG4 (D319N)	Single nucleotide variant (missense variant)	Hypotrichosis 6 +1 more	GConflicting classifications of pathogenicity
Select item 2502917	NM_177986.5(DSG4):c.968A>G (p.Asp323Gly)	DSG1-AS1, DSG4 (D323G)	Single nucleotide variant (missense variant)	Hypotrichosis 6	GPathogenic

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