21150[HGNC] - 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 57135	GRCh38/hg38 18q12.1-12.3(chr18:31655749-42564094)x3	ASXL3, B4GALT6 +146 more	Copy number gain	See cases	GPathogenic
Select item 1715375	NM_017831.4(RNF125):c.10G>C (p.Val4Leu)	LOC121852963, RNF125 (V4L)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 3155002	NM_017831.4(RNF125):c.11T>G (p.Val4Gly)	LOC121852963, RNF125 (V4G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1168280	NM_017831.4(RNF125):c.21C>T (p.Thr7=)	LOC121852963, RNF125	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1806236	NM_017831.4(RNF125):c.24C>G (p.Asp8Glu)	LOC121852963, RNF125 (D8E)	Single nucleotide variant (missense variant)	Tenorio syndrome +1 more	GConflicting classifications of pathogenicity
Select item 707497	NM_017831.4(RNF125):c.28_30del (p.Gly10del)	LOC121852963, RNF125 (G10del)	Deletion (inframe_deletion)	Tenorio syndrome	GBenign
Select item 1679769	NM_017831.4(RNF125):c.40C>T (p.Pro14Ser)	LOC121852963, RNF125 (P14S)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 2821728	NM_017831.4(RNF125):c.42C>G (p.Pro14=)	LOC121852963, RNF125	Single nucleotide variant (synonymous variant)	Tenorio syndrome	GLikely benign
Select item 542140	NM_017831.4(RNF125):c.47C>G (p.Ser16Cys)	LOC121852963, RNF125 (S16C)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 1979017	NM_017831.4(RNF125):c.70C>T (p.Arg24Cys)	LOC121852963, RNF125 (R24C)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 542141	NM_017831.4(RNF125):c.81C>A (p.Asp27Glu)	LOC121852963, RNF125 (D27E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3314710	NM_017831.4(RNF125):c.82C>A (p.Pro28Thr)	LOC121852963, RNF125 (P28T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348725	NM_017831.4(RNF125):c.82C>T (p.Pro28Ser)	LOC121852963, RNF125 (P28S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 726819	NM_017831.4(RNF125):c.90G>A (p.Leu30=)	LOC121852963, RNF125	Single nucleotide variant (synonymous variant)	Tenorio syndrome	GBenign
Select item 377122	NM_017831.4(RNF125):c.92C>T (p.Pro31Leu)	LOC121852963, RNF125 (P31L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2876918	NM_017831.4(RNF125):c.111C>T (p.Cys37=)	LOC121852963, RNF125	Single nucleotide variant (synonymous variant)	Tenorio syndrome	GLikely benign
Select item 436546	NM_017831.4(RNF125):c.122T>C (p.Leu41Pro)	LOC121852963, RNF125 (L41P)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1954081	NM_017831.4(RNF125):c.127G>A (p.Val43Met)	LOC121852963, RNF125 (V43M)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 772500	NM_017831.4(RNF125):c.132A>G (p.Leu44=)	LOC121852963, RNF125	Single nucleotide variant (synonymous variant)	Tenorio syndrome	GBenign
Select item 2627044	NM_017831.4(RNF125):c.164+5G>A	RNF125	Single nucleotide variant (intron variant)	Tenorio syndrome	GUncertain significance
Select item 1421722	NM_017831.4(RNF125):c.175T>C (p.Ser59Pro)	RNF125 (S59P)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 2226586	NM_017831.4(RNF125):c.176C>T (p.Ser59Phe)	RNF125 (S59F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1334768	NM_017831.4(RNF125):c.181A>T (p.Ile61Phe)	RNF125 (I61F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3155003	NM_017831.4(RNF125):c.198G>T (p.Lys66Asn)	RNF125 (K66N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155004	NM_017831.4(RNF125):c.200A>T (p.Asn67Ile)	RNF125 (N67I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3059184	NM_017831.4(RNF125):c.207G>A (p.Lys69=)	RNF125	Single nucleotide variant (synonymous variant)	RNF125-related disorder	GLikely benign
Select item 2042469	NM_017831.4(RNF125):c.227G>A (p.Arg76Gln)	RNF125 (R76Q)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 771560	NM_017831.4(RNF125):c.253C>T (p.Pro85Ser)	RNF125 (P85S)	Single nucleotide variant (missense variant)	Tenorio syndrome	GLikely benign
Select item 2717588	NM_017831.4(RNF125):c.264T>C (p.Asp88=)	RNF125	Single nucleotide variant (synonymous variant)	Tenorio syndrome	GLikely benign
Select item 771247	NM_017831.4(RNF125):c.300C>T (p.Cys100=)	RNF125	Single nucleotide variant (synonymous variant)	Tenorio syndrome	GBenign
Select item 1175931	NM_017831.4(RNF125):c.301G>A (p.Ala101Thr)	RNF125 (A101T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327959	NM_017831.4(RNF125):c.318+23T>G	RNF125	Single nucleotide variant (intron variant)	Tenorio syndrome +1 more	GBenign
Select item 772069	NM_017831.4(RNF125):c.324C>T (p.Cys108=)	RNF125	Single nucleotide variant (synonymous variant)	Tenorio syndrome	GBenign
Select item 183420	NM_017831.4(RNF125):c.336G>A (p.Met112Ile)	RNF125 (M112I)	Single nucleotide variant (missense variant)	Tenorio syndrome	GPathogenic
Select item 1016415	NM_017831.4(RNF125):c.368T>C (p.Ile123Thr)	RNF125 (I123T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 643501	NM_017831.4(RNF125):c.379G>A (p.Gly127Arg)	RNF125 (G127R)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 2741332	NM_017831.4(RNF125):c.382C>A (p.Pro128Thr)	RNF125 (P128T)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 475384	NM_017831.4(RNF125):c.387A>G (p.Leu129=)	RNF125	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2329504	NM_017831.4(RNF125):c.400G>A (p.Glu134Lys)	RNF125 (E134K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1721637	NM_017831.4(RNF125):c.410C>T (p.Ala137Val)	RNF125 (A137V)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 2888703	NM_017831.4(RNF125):c.414-8A>G	RNF125	Single nucleotide variant (intron variant)	Tenorio syndrome	GLikely benign
Select item 1801335	NM_017831.4(RNF125):c.420_423del (p.Cys141fs)	RNF125 (C141fs)	Deletion (frameshift variant)	Tenorio syndrome	GUncertain significance
Select item 707675	NM_017831.4(RNF125):c.445T>G (p.Tyr149Asp)	RNF125 (Y149D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 939378	NM_017831.4(RNF125):c.454A>G (p.Ser152Gly)	RNF125 (S152G)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 3337523	NM_017831.4(RNF125):c.458T>G (p.Leu153Trp)	RNF125 (L153W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 848755	NM_017831.4(RNF125):c.472A>G (p.Ile158Val)	RNF125 (I158V)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 183421	NM_017831.4(RNF125):c.488C>T (p.Ser163Leu)	RNF125 (S163L)	Single nucleotide variant (missense variant)	Tenorio syndrome +1 more	GUncertain significance
Select item 772145	NM_017831.4(RNF125):c.489G>A (p.Ser163=)	RNF125	Single nucleotide variant (synonymous variant)	Tenorio syndrome +1 more	GBenign/Likely benign
Select item 718169	NM_017831.4(RNF125):c.493C>T (p.Arg165Trp)	RNF125 (R165W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1167211	NM_017831.4(RNF125):c.494G>A (p.Arg165Gln)	RNF125 (R165Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1609517	NM_017831.4(RNF125):c.504+18A>G	RNF125	Single nucleotide variant (intron variant)	Tenorio syndrome	GLikely benign
Select item 2235610	NM_017831.4(RNF125):c.518G>A (p.Cys173Tyr)	RNF125 (C173Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 183422	NM_017831.4(RNF125):c.520C>T (p.Arg174Cys)	RNF125 (R174C)	Single nucleotide variant (missense variant)	Tenorio syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2143353	NM_017831.4(RNF125):c.521G>T (p.Arg174Leu)	RNF125 (R174L)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 1523002	NM_017831.4(RNF125):c.521G>A (p.Arg174His)	RNF125 (R174H)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 2026027	NM_017831.4(RNF125):c.524del (p.Arg174_Leu175insTer)	RNF125	Deletion (nonsense)	Tenorio syndrome	GUncertain significance
Select item 3155006	NM_017831.4(RNF125):c.524T>C (p.Leu175Ser)	RNF125 (L175S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2037666	NM_017831.4(RNF125):c.532G>A (p.Asp178Asn)	RNF125 (D178N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 475385	NM_017831.4(RNF125):c.570A>T (p.Arg190Ser)	RNF125 (R190S)	Single nucleotide variant (missense variant)	Tenorio syndrome +1 more	GBenign
Select item 2544572	NM_017831.4(RNF125):c.573T>A (p.His191Gln)	RNF125 (H191Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3061485	NM_017831.4(RNF125):c.584_588del (p.Ser195fs)	RNF125 (S195fs)	Deletion (frameshift variant)	RNF125-related disorder	GUncertain significance
Select item 3032067	NM_017831.4(RNF125):c.594G>T (p.Leu198Phe)	RNF125 (L198F)	Single nucleotide variant (missense variant)	RNF125-related disorder	GUncertain significance
Select item 2435447	NM_017831.4(RNF125):c.612+1G>A	RNF125	Single nucleotide variant (splice donor variant)	Tenorio syndrome	GUncertain significance
Select item 642635	NC_000018.9:g.(?_29648241)_(29648367_?)dup	RNF125	Duplication	Tenorio syndrome	GUncertain significance
Select item 2790301	NM_017831.4(RNF125):c.613-14_613-12del	RNF125	Deletion (intron variant)	Tenorio syndrome	GUncertain significance
Select item 2349179	NM_017831.4(RNF125):c.659G>A (p.Arg220Gln)	RNF125 (R220Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242220	NM_017831.4(RNF125):c.661T>A (p.Ser221Thr)	RNF125 (S221T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1922910	NM_017831.4(RNF125):c.670G>C (p.Glu224Gln)	RNF125 (E224Q)	Single nucleotide variant (missense variant)	Tenorio syndrome +1 more	GUncertain significance
Select item 1184433	NM_017831.4(RNF125):c.679A>T (p.Asn227Tyr)	RNF125 (N227Y)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 2112577	NM_017831.4(RNF125):c.683A>G (p.His228Arg)	RNF125 (H228R)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 3032622	NM_017831.4(RNF125):c.687G>A (p.Ser229=)	RNF125	Single nucleotide variant (synonymous variant)	RNF125-related disorder	GLikely benign
Select item 707273	NM_017831.4(RNF125):c.690C>T (p.Asn230=)	RNF125	Single nucleotide variant (synonymous variant)	Tenorio syndrome +1 more	GBenign
Select item 151096	GRCh38/hg38 18q12.1(chr18:32072818-32156568)x1	LOC129390981, LOC129390982 +8 more	Copy number loss	See cases	GUncertain significance
Select item 2685618	GRCh37/hg19 18q12.1-12.3(chr18:26595964-38643072)x1	ASXL3, B4GALT6 +35 more	Copy number loss	not provided	GPathogenic
Select item 2426360	NC_000018.9:g.(?_29645845)_(29648347_?)dup	RNF125	Duplication	Tenorio syndrome	GUncertain significance
Select item 2426359	NC_000018.9:g.(?_29598827)_(29648347_?)dup	RNF125	Duplication	Tenorio syndrome	GUncertain significance
Select item 2424326	NC_000018.9:g.(?_28647981)_(29648347_?)dup	B4GALT6, DSC1 +9 more	Duplication	not provided	GUncertain significance
Select item 1807786	GRCh37/hg19 18q12.1(chr18:29524181-29617255)x1	RNF125	Copy number loss	not provided	GLikely pathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1412089	NC_000018.9:g.(?_29598827)_(29617252_?)del	RNF125	Deletion	Tenorio syndrome	GUncertain significance
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 1047553	NC_000018.9:g.(?_29598807)_(29625715_?)dup	RNF125	Duplication	Tenorio syndrome	GUncertain significance
Select item 983154	GRCh37/hg19 18q11.2-12.2(chr18:23971647-33737300)x1	AQP4, ASXL3 +35 more	Copy number loss	See cases	GPathogenic

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