1828[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 1260818	NM_001942.4(DSG1):c.-63A>G	DSG1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3049198	NM_001942.4(DSG1):c.-8C>A	DSG1	Single nucleotide variant (5 prime UTR variant)	DSG1-related disorder	GLikely benign
Select item 1720327	NM_001942.4(DSG1):c.4G>C (p.Asp2His)	DSG1 (D2H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1483882	NM_001942.4(DSG1):c.9G>C (p.Trp3Cys)	DSG1 (W3C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2194463	NM_001942.4(DSG1):c.19A>G (p.Arg7Gly)	DSG1 (R7G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 402801	NM_001942.4(DSG1):c.31A>G (p.Met11Val)	DSG1 (M11V)	Single nucleotide variant (missense variant)	Severe dermatitis-multiple allergies-metabolic wasting syndrome +3 more	GBenign
Select item 2838406	NM_001942.4(DSG1):c.34C>T (p.Leu12=)	DSG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1718668	NM_001942.4(DSG1):c.40A>G (p.Ile14Val)	DSG1 (I14V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1626817	NM_001942.4(DSG1):c.40A>T (p.Ile14Phe)	DSG1 (I14F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1443223	NM_001942.4(DSG1):c.45dup (p.Leu16fs)	DSG1 (L16fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1349327	NM_001942.4(DSG1):c.48+3G>C	DSG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2748255	NM_001942.4(DSG1):c.48+7G>A	DSG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2110330	NM_001942.4(DSG1):c.48+8G>T	DSG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2013814	NM_001942.4(DSG1):c.48+12C>T	DSG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766199	NM_001942.4(DSG1):c.48+16T>C	DSG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907465	NM_001942.4(DSG1):c.48+19A>C	DSG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236054	NM_001942.4(DSG1):c.48+256G>A	DSG1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1265775	NM_001942.4(DSG1):c.49-84T>C	DSG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291718	NM_001942.4(DSG1):c.49-83G>A	DSG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 88661	NM_001942.4(DSG1):c.49-1G>A	DSG1	Single nucleotide variant (splice acceptor variant)	Severe dermatitis-multiple allergies-metabolic wasting syndrome	GPathogenic
Select item 3018420	NM_001942.4(DSG1):c.50T>C (p.Val17Ala)	DSG1 (V17A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 88657	NM_001942.4(DSG1):c.76C>T (p.Arg26Ter)	DSG1 (R26*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1923248	NM_001942.4(DSG1):c.77G>A (p.Arg26Gln)	DSG1 (R26Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1614561	NM_001942.4(DSG1):c.78A>G (p.Arg26=)	DSG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1544870	NM_001942.4(DSG1):c.84+9T>C	DSG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1630808	NM_001942.4(DSG1):c.84+19A>G	DSG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1628948	NM_001942.4(DSG1):c.85-20C>A	DSG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1555443	NM_001942.4(DSG1):c.85-20C>T	DSG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1927183	NM_001942.4(DSG1):c.85-16A>G	DSG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 16819	NM_001942.4(DSG1):c.85-1G>A	DSG1	Single nucleotide variant (splice acceptor variant)	Palmoplantar keratoderma i, striate, focal, or diffuse	GPathogenic
Select item 1713346	NM_001942.4(DSG1):c.85G>A (p.Val29Ile)	DSG1 (V29I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118547	NM_001942.4(DSG1):c.87A>G (p.Val29=)	DSG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613454	NM_001942.4(DSG1):c.97A>G (p.Asn33Asp)	DSG1 (N33D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1922773	NM_001942.4(DSG1):c.101C>T (p.Thr34Ile)	DSG1 (T34I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904459	NM_001942.4(DSG1):c.104A>T (p.Lys35Ile)	DSG1 (K35I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2000458	NM_001942.4(DSG1):c.115A>G (p.Ile39Val)	DSG1 (I39V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 88658	NM_001942.4(DSG1):c.121dup (p.Trp41fs)	DSG1 (W41fs)	Duplication (frameshift variant)	Palmoplantar keratoderma i, striate, focal, or diffuse	GPathogenic
Select item 495107	NM_001942.4(DSG1):c.133C>T (p.Arg45Ter)	DSG1 (R45*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1439950	NM_001942.4(DSG1):c.134G>A (p.Arg45Gln)	DSG1 (R45Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1721317	NM_001942.4(DSG1):c.146G>T (p.Arg49Leu)	DSG1 (R49L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1412676	NM_001942.4(DSG1):c.154A>T (p.Ile52Phe)	DSG1 (I52F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1942989	NM_001942.4(DSG1):c.162C>T (p.Phe54=)	DSG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866694	NM_001942.4(DSG1):c.163G>T (p.Ala55Ser)	DSG1 (A55S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068735	NM_001942.4(DSG1):c.169G>A (p.Ala57Thr)	DSG1 (A57T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2748560	NM_001942.4(DSG1):c.174T>A (p.Cys58Ter)	DSG1 (C58*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2874683	NM_001942.4(DSG1):c.175C>T (p.Arg59Cys)	DSG1 (R59C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1435340	NM_001942.4(DSG1):c.176G>A (p.Arg59His)	DSG1 (R59H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1610838	NM_001942.4(DSG1):c.183T>G (p.Gly61=)	DSG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2035774	NM_001942.4(DSG1):c.198G>A (p.Lys66=)	DSG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1994708	NM_001942.4(DSG1):c.208A>G (p.Ile70Val)	DSG1 (I70V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895243	NM_001942.4(DSG1):c.216+4G>A	DSG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2792406	NM_001942.4(DSG1):c.216+7A>G	DSG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798293	NM_001942.4(DSG1):c.216+11A>G	DSG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1563176	NM_001942.4(DSG1):c.216+20C>A	DSG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178434	NM_001942.4(DSG1):c.216+128C>T	DSG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266834	NM_001942.4(DSG1):c.216+258T>G	DSG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236050	NM_001942.4(DSG1):c.217-62G>A	DSG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2831935	NM_001942.4(DSG1):c.217-18C>T	DSG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1994728	NM_001942.4(DSG1):c.217-13G>C	DSG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639296	NM_001942.4(DSG1):c.217-12T>C	DSG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2182012	NM_001942.4(DSG1):c.217-8T>C	DSG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2415032	NM_001942.4(DSG1):c.218T>C (p.Ile73Thr)	DSG1 (I73T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1598239	NM_001942.4(DSG1):c.219T>C (p.Ile73=)	DSG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764098	NM_001942.4(DSG1):c.224C>G (p.Ser75Ter)	DSG1 (S75*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 872391	NM_001942.4(DSG1):c.241C>T (p.Gln81Ter)	DSG1 (Q81*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 787461	NM_001942.4(DSG1):c.243G>C (p.Gln81His)	DSG1 (Q81H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2061488	NM_001942.4(DSG1):c.245A>G (p.Gln82Arg)	DSG1 (Q82R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1616811	NM_001942.4(DSG1):c.249T>C (p.Val83=)	DSG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856338	NM_001942.4(DSG1):c.250A>T (p.Thr84Ser)	DSG1 (T84S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473170	NM_001942.4(DSG1):c.256C>T (p.Arg86Cys)	DSG1 (R86C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631524	NM_001942.4(DSG1):c.280C>T (p.Gln94Ter)	DSG1 (Q94*)	Single nucleotide variant (nonsense)	DSG1-related disorder	GPathogenic
Select item 2706943	NM_001942.4(DSG1):c.295A>T (p.Ile99Phe)	DSG1 (I99F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1454139	NM_001942.4(DSG1):c.316del (p.Thr106fs)	DSG1 (T106fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2082809	NM_001942.4(DSG1):c.317C>G (p.Thr106Ser)	DSG1 (T106S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969312	NM_001942.4(DSG1):c.321T>C (p.Gly107=)	DSG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2126033	NM_001942.4(DSG1):c.331A>G (p.Ile111Val)	DSG1 (I111V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2738332	NM_001942.4(DSG1):c.337dup (p.Ser113fs)	DSG1 (S113fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2168797	NM_001942.4(DSG1):c.339C>G (p.Ser113=)	DSG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1925215	NM_001942.4(DSG1):c.343G>A (p.Val115Ile)	DSG1 (V115I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974257	NM_001942.4(DSG1):c.344T>C (p.Val115Ala)	DSG1 (V115A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1437228	NM_001942.4(DSG1):c.346G>A (p.Asp116Asn)	DSG1 (D116N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2189050	NM_001942.4(DSG1):c.350G>A (p.Arg117Gln)	DSG1 (R117Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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