ClinVar for Gene (Select 54941) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3155004	NM_017831.4(RNF125):c.200A>T (p.Asn67Ile)	RNF125 (N67I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 3061485	NM_017831.4(RNF125):c.584_588del (p.Ser195fs)	RNF125 (S195fs)	Deletion (frameshift variant)	RNF125-related disorder	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 3032622	NM_017831.4(RNF125):c.687G>A (p.Ser229=)	RNF125	Single nucleotide variant (synonymous variant)	RNF125-related disorder	GLikely benign
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 2888703	NM_017831.4(RNF125):c.414-8A>G	RNF125	Single nucleotide variant (intron variant)	Tenorio syndrome	GLikely benign
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 2821728	NM_017831.4(RNF125):c.42C>G (p.Pro14=)	LOC121852963, RNF125	Single nucleotide variant (synonymous variant)	Tenorio syndrome	GLikely benign
Select item 2790301	NM_017831.4(RNF125):c.613-14_613-12del	RNF125	Deletion (intron 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 2717588	NM_017831.4(RNF125):c.264T>C (p.Asp88=)	RNF125	Single nucleotide variant (synonymous variant)	Tenorio syndrome	GLikely benign
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 2627044	NM_017831.4(RNF125):c.164+5G>A	RNF125	Single nucleotide variant (intron variant)	Tenorio syndrome	GUncertain significance
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 2435447	NM_017831.4(RNF125):c.612+1G>A	RNF125	Single nucleotide variant (splice donor variant)	Tenorio syndrome	GUncertain significance
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 2349179	NM_017831.4(RNF125):c.659G>A (p.Arg220Gln)	RNF125 (R220Q)	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 2329504	NM_017831.4(RNF125):c.400G>A (p.Glu134Lys)	RNF125 (E134K)	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 2235610	NM_017831.4(RNF125):c.518G>A (p.Cys173Tyr)	RNF125 (C173Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2143353	NM_017831.4(RNF125):c.521G>T (p.Arg174Leu)	RNF125 (R174L)	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 2042469	NM_017831.4(RNF125):c.227G>A (p.Arg76Gln)	RNF125 (R76Q)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 2037666	NM_017831.4(RNF125):c.532G>A (p.Asp178Asn)	RNF125 (D178N)	Single nucleotide variant (missense variant)	Tenorio syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2026027	NM_017831.4(RNF125):c.524del (p.Arg174_Leu175insTer)	RNF125	Deletion (nonsense)	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 1954081	NM_017831.4(RNF125):c.127G>A (p.Val43Met)	LOC121852963, RNF125 (V43M)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 1922910	NM_017831.4(RNF125):c.670G>C (p.Glu224Gln)	RNF125 (E224Q)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 1807786	GRCh37/hg19 18q12.1(chr18:29524181-29617255)x1	RNF125	Copy number loss	not provided	GLikely pathogenic
Select item 1806236	NM_017831.4(RNF125):c.24C>G (p.Asp8Glu)	LOC121852963, RNF125 (D8E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1801335	NM_017831.4(RNF125):c.420_423del (p.Cys141fs)	RNF125 (C141fs)	Deletion (frameshift variant)	Tenorio syndrome	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 1715375	NM_017831.4(RNF125):c.10G>C (p.Val4Leu)	LOC121852963, RNF125 (V4L)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
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 1609517	NM_017831.4(RNF125):c.504+18A>G	RNF125	Single nucleotide variant (intron variant)	Tenorio syndrome	GLikely benign
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
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 1421722	NM_017831.4(RNF125):c.175T>C (p.Ser59Pro)	RNF125 (S59P)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 1412089	NC_000018.9:g.(?_29598827)_(29617252_?)del	RNF125	Deletion	Tenorio syndrome	GUncertain significance
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 1327959	NM_017831.4(RNF125):c.318+23T>G	RNF125	Single nucleotide variant (intron variant)	Tenorio syndrome	GBenign
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
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 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
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 1168280	NM_017831.4(RNF125):c.21C>T (p.Thr7=)	LOC121852963, RNF125	Single nucleotide variant (synonymous variant)	Tenorio syndrome	GBenign
Select item 1167211	NM_017831.4(RNF125):c.494G>A (p.Arg165Gln)	RNF125 (R165Q)	Single nucleotide variant (missense variant)	Tenorio syndrome	GBenign
Select item 1047553	NC_000018.9:g.(?_29598807)_(29625715_?)dup	RNF125	Duplication	Tenorio syndrome	GUncertain significance
Select item 1016415	NM_017831.4(RNF125):c.368T>C (p.Ile123Thr)	RNF125 (I123T)	Single nucleotide variant (missense variant)	Tenorio syndrome +1 more	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
Select item 979691	GRCh37/hg19 18q12.1(chr18:25329706-29734723)x3	B4GALT6, CDH2 +12 more	Copy number gain	not provided	GUncertain significance
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 848755	NM_017831.4(RNF125):c.472A>G (p.Ile158Val)	RNF125 (I158V)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 816014	GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3	ACAA2, ANKRD29 +97 more	Copy number gain	not provided	GPathogenic
Select item 815998	GRCh37/hg19 18q11.2-12.2(chr18:22868759-34335753)x1	AQP4, ASXL3 +40 more	Copy number loss	not provided	GPathogenic
Select item 815996	GRCh37/hg19 18q12.1(chr18:29164927-29757460)x3	B4GALT6, RNF125 +4 more	Copy number gain	not provided	GUncertain significance
Select item 815995	GRCh37/hg19 18q12.1(chr18:29295480-29637636)x3	SLC25A52, TRAPPC8 +1 more	Copy number gain	not provided	GUncertain significance
Select item 815994	GRCh37/hg19 18q12.1(chr18:29233698-29632784)x3	RNF125, SLC25A52 +2 more	Copy number gain	not provided	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 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 772069	NM_017831.4(RNF125):c.324C>T (p.Cys108=)	RNF125	Single nucleotide variant (synonymous variant)	Tenorio syndrome	GBenign
Select item 771560	NM_017831.4(RNF125):c.253C>T (p.Pro85Ser)	RNF125 (P85S)	Single nucleotide variant (missense variant)	RNF125-related disorder +1 more	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 726819	NM_017831.4(RNF125):c.90G>A (p.Leu30=)	LOC121852963, RNF125	Single nucleotide variant (synonymous variant)	RNF125-related disorder +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 707675	NM_017831.4(RNF125):c.445T>G (p.Tyr149Asp)	RNF125 (Y149D)	Single nucleotide variant (missense variant)	Tenorio syndrome	GBenign
Select item 707497	NM_017831.4(RNF125):c.28_30del (p.Gly10del)	LOC121852963, RNF125 (G10del)	Deletion (inframe_deletion)	Tenorio syndrome	GBenign
Select item 707273	NM_017831.4(RNF125):c.690C>T (p.Asn230=)	RNF125	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 687618	GRCh37/hg19 18q12.1(chr18:29264027-29737668)x3	B4GALT6, RNF125 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686665	GRCh37/hg19 18q12.1(chr18:29532253-29637734)x3	RNF125	Copy number gain	not provided	GUncertain significance
Select item 685305	GRCh37/hg19 18q12.1(chr18:29527883-29616695)x1	RNF125	Copy number loss	not provided	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 642635	NC_000018.9:g.(?_29648241)_(29648367_?)dup	RNF125	Duplication	Tenorio syndrome	GUncertain significance
Select item 564507	GRCh37/hg19 18q12.1(chr18:29283144-29685964)x3	RNF125, RNF138 +2 more	Copy number gain	not provided	GUncertain significance
Select item 542141	NM_017831.4(RNF125):c.81C>A (p.Asp27Glu)	LOC121852963, RNF125 (D27E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 475385	NM_017831.4(RNF125):c.570A>T (p.Arg190Ser)	RNF125 (R190S)	Single nucleotide variant (missense variant)	Tenorio syndrome	GBenign
Select item 475384	NM_017831.4(RNF125):c.387A>G (p.Leu129=)	RNF125	Single nucleotide variant (synonymous variant)	Tenorio syndrome +1 more	GBenign/Likely benign
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443062	GRCh37/hg19 18q11.2-12.2(chr18:20069932-36887326)x1	ANKRD29, AQP4 +56 more	Copy number loss	See cases	GPathogenic
Select item 443054	GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3	ARK2C, ARK2N +62 more	Copy number gain	See cases	GLikely benign
Select item 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 more	Copy number gain	See cases	GPathogenic
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic
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 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 377122	NM_017831.4(RNF125):c.92C>T (p.Pro31Leu)	RNF125, LOC121852963 (P31L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic
Select item 183422	NM_017831.4(RNF125):c.520C>T (p.Arg174Cys)	RNF125 (R174C)	Single nucleotide variant (missense variant)	Tenorio syndrome	GPathogenic
Select item 183421	NM_017831.4(RNF125):c.488C>T (p.Ser163Leu)	RNF125 (S163L)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 183420	NM_017831.4(RNF125):c.336G>A (p.Met112Ile)	RNF125 (M112I)	Single nucleotide variant (missense variant)	Tenorio syndrome	GPathogenic

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