ClinVar for Gene (Select 26098) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148924	GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 3087217	NM_001202438.2(EDRF1):c.755C>T (p.Pro252Leu)	EDRF1 (P252L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087216	NM_001202438.2(EDRF1):c.695C>G (p.Ser232Cys)	EDRF1 (S232C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087215	NM_001202438.2(EDRF1):c.3568A>G (p.Ile1190Val)	EDRF1 (I1156V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3087214	NM_001202438.2(EDRF1):c.3409G>T (p.Ala1137Ser)	EDRF1 (A1103S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087213	NM_001202438.2(EDRF1):c.3124G>T (p.Val1042Phe)	EDRF1, EDRF1-AS1 (V1008F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3087212	NM_001202438.2(EDRF1):c.2206G>A (p.Glu736Lys)	EDRF1 (E702K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087211	NM_001202438.2(EDRF1):c.1655G>T (p.Ser552Ile)	EDRF1 (S552I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087210	NM_001202438.2(EDRF1):c.1336G>C (p.Asp446His)	EDRF1 (D446H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063175	GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1	ABRAXAS2, ADAM12 +55 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063149	GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1	ABRAXAS2, ADAM12 +54 more	Copy number loss	not specified	GPathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2640955	NM_001202438.2(EDRF1):c.3528A>G (p.Ser1176=)	EDRF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2627108	NM_001202438.2(EDRF1):c.2140C>T (p.Arg714Ter)	EDRF1 (R680* +1 more)	Single nucleotide variant (nonsense +1 more)	See cases	GUncertain significance
Select item 2623446	NM_001202438.2(EDRF1):c.68G>A (p.Ser23Asn)	EDRF1 (S23N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620696	NM_001202438.2(EDRF1):c.3136C>A (p.His1046Asn)	EDRF1, EDRF1-AS1 (H1012N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2615022	NM_001202438.2(EDRF1):c.773A>T (p.Asp258Val)	EDRF1 (D258V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605667	NM_001202438.2(EDRF1):c.2798G>C (p.Gly933Ala)	EDRF1, EDRF1-AS1 (G899A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596637	NM_001202438.2(EDRF1):c.2582A>G (p.Glu861Gly)	EDRF1 (E861G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580338	GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1	ABRAXAS2, ADAM12 +62 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	GLRX3, GPR26 +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2556348	NM_001202438.2(EDRF1):c.2809A>T (p.Asn937Tyr)	EDRF1, EDRF1-AS1 (N937Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537049	NM_001202438.2(EDRF1):c.1360A>G (p.Met454Val)	EDRF1 (M420V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528378	NM_001202438.2(EDRF1):c.1247A>G (p.Lys416Arg)	EDRF1 (K382R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522217	NM_001202438.2(EDRF1):c.1058A>G (p.Tyr353Cys)	EDRF1 (Y319C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518280	NM_001202438.2(EDRF1):c.11C>A (p.Ala4Asp)	EDRF1 (A4D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516280	NM_001202438.2(EDRF1):c.3620A>G (p.Asn1207Ser)	EDRF1 (N1173S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515131	NM_001202438.2(EDRF1):c.697A>G (p.Ser233Gly)	EDRF1 (S233G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508345	NM_001202438.2(EDRF1):c.641A>G (p.Asn214Ser)	EDRF1 (N214S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 2480149	NM_001202438.2(EDRF1):c.1380G>C (p.Leu460Phe)	EDRF1 (L426F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473093	NM_001202438.2(EDRF1):c.1546G>A (p.Glu516Lys)	EDRF1 (E482K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472909	NM_001202438.2(EDRF1):c.1630G>A (p.Asp544Asn)	EDRF1 (D544N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386423	NM_001202438.2(EDRF1):c.1364C>T (p.Pro455Leu)	EDRF1 (P455L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374604	NM_001202438.2(EDRF1):c.1933G>A (p.Gly645Arg)	EDRF1 (G645R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351785	NM_001202438.2(EDRF1):c.3331A>G (p.Met1111Val)	EDRF1 (M1077V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303743	NM_001202438.2(EDRF1):c.188C>T (p.Ala63Val)	EDRF1 (A63V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268326	NM_001202438.2(EDRF1):c.2420C>T (p.Ser807Phe)	EDRF1 (S773F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259358	NM_001202438.2(EDRF1):c.3409G>A (p.Ala1137Thr)	EDRF1 (A1103T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2253325	NM_001202438.2(EDRF1):c.3652G>A (p.Val1218Ile)	EDRF1 (V1218I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244518	NM_001202438.2(EDRF1):c.2777G>C (p.Arg926Pro)	EDRF1, EDRF1-AS1 (R926P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238342	NM_001202438.2(EDRF1):c.3330A>G (p.Ile1110Met)	EDRF1 (I1076M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236784	NM_001202438.2(EDRF1):c.124C>T (p.Leu42Phe)	EDRF1 (L42F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233952	NM_001202438.2(EDRF1):c.1352C>T (p.Pro451Leu)	EDRF1 (P417L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231422	NM_001202438.2(EDRF1):c.2614G>A (p.Glu872Lys)	EDRF1, EDRF1-AS1 (E838K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218718	NM_001202438.2(EDRF1):c.515G>A (p.Gly172Asp)	EDRF1 (G172D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211469	NM_001202438.2(EDRF1):c.3685G>A (p.Gly1229Ser)	EDRF1 (G1195S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808847	GRCh37/hg19 10q26.13-26.3(chr10:126662496-133985966)x3	ADAM12, BCCIP +24 more	Copy number gain	not provided	GUncertain significance
Select item 1711099	GRCh37/hg19 10q26.13-26.3(chr10:127198625-135427143)x3	ADAM12, ADAM8 +47 more	Copy number gain	See cases	GPathogenic
Select item 1711096	GRCh37/hg19 10q26.13-26.3(chr10:126914469-135427143)x1	ADAM12, ADAM8 +47 more	Copy number loss	See cases	GPathogenic
Select item 1707466	Single allele	BCCIP, CTBP2 +34 more	Duplication	not specified	GUncertain significance
Select item 1527609	GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)	FAM24A, FAM24B +80 more	Copy number loss	not specified	GPathogenic
Select item 1527608	GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)	ABRAXAS2, ACADSB +68 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1340727	GRCh37/hg19 10q26.13-26.2(chr10:127128172-127999424)x3	ADAM12, BCCIP +6 more	Copy number gain	not provided	GUncertain significance
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1172570	GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1	FANK1, FGFR2 +79 more	Copy number loss	See cases	GPathogenic
Select item 815379	GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3	FGFR2, FOXI2 +95 more	Copy number gain	not provided	GPathogenic
Select item 790632	NM_001202438.2(EDRF1):c.2193C>T (p.Thr731=)	EDRF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 786177	NM_001202438.2(EDRF1):c.1440T>C (p.Thr480=)	EDRF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 776770	NM_001202438.2(EDRF1):c.2445T>A (p.Ala815=)	EDRF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 773240	NM_001202438.2(EDRF1):c.477A>G (p.Leu159=)	EDRF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 688100	GRCh37/hg19 10q26.13-26.3(chr10:124988334-135427143)x3	ABRAXAS2, ADAM12 +58 more	Copy number gain	not provided	GPathogenic
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 563799	GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3	ABRAXAS2, ACADSB +86 more	Copy number gain	not provided	GPathogenic
Select item 563798	GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1	ABRAXAS2, ACADSB +79 more	Copy number loss	not provided	GPathogenic
Select item 563797	GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1	ABRAXAS2, ACADSB +78 more	Copy number loss	not provided	GPathogenic
Select item 563796	GRCh37/hg19 10q26.13-26.3(chr10:125450893-135427143)x1	ABRAXAS2, ADAM12 +58 more	Copy number loss	not provided	GPathogenic
Select item 563794	GRCh37/hg19 10q26.13-26.3(chr10:127375792-135427143)x1	TCERG1L, LINC01166 +46 more	Copy number loss	not provided	GPathogenic
Select item 563778	GRCh37/hg19 10q26.13-26.2(chr10:126652011-128433378)x3	CTBP2, MMP21 +9 more	Copy number gain	not provided	GUncertain significance
Select item 563751	GRCh37/hg19 10q26.13-26.2(chr10:127396411-127933662)x3	MMP21, FANK1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 395627	GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1	ABRAXAS2, ACADSB +73 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic
Select item 253439	GRCh37/hg19 10q26.12-26.2(chr10:122239239-128203032)x1	C10orf90, CHST15 +40 more	Copy number loss	See cases	GPathogenic
Select item 219035	GRCh37/hg19 10q26.13-26.3(chr10:123731209-135353867)x1	ACADSB, ADAM12 +75 more	Copy number loss	See cases	GPathogenic
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	ABRAXAS2, ADAM12 +311 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 152830	GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3	ADAM12, ADAM8 +241 more	Copy number gain	See cases	GPathogenic
Select item 150776	GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1	LOC126861090, LOC126861091 +250 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 more	Copy number loss	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 148580	GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1	LOC130005026, LOC130005027 +257 more	Copy number loss	See cases	GPathogenic
Select item 147735	GRCh38/hg38 10q26.13-26.2(chr10:124032888-127368827)x3	ABRAXAS2, ADAM12 +117 more	Copy number gain	See cases	GPathogenic

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