10994[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 907995	NM_000112.3(SLC26A2):c.-264C>T	LOC129994976, SLC26A2	Single nucleotide variant	Achondrogenesis, type IB +4 more	GUncertain significance
Select item 352012	NM_000112.3(SLC26A2):c.-256G>A	LOC129994976, SLC26A2	Single nucleotide variant	Multiple epiphyseal dysplasia type 4 +4 more	GUncertain significance
Select item 352013	NM_000112.4(SLC26A2):c.-238G>A	LOC129994976, SLC26A2	Single nucleotide variant (5 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GUncertain significance
Select item 352014	NM_000112.4(SLC26A2):c.-235T>C	LOC129994976, SLC26A2	Single nucleotide variant (5 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GUncertain significance
Select item 1191571	NM_000112.4(SLC26A2):c.-231C>T	LOC129994976, SLC26A2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 905477	NM_000112.4(SLC26A2):c.-229T>C	LOC129994976, SLC26A2	Single nucleotide variant (5 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GUncertain significance
Select item 352015	NM_000112.4(SLC26A2):c.-223A>G	LOC129994976, SLC26A2	Single nucleotide variant (5 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GUncertain significance
Select item 352016	NM_000112.4(SLC26A2):c.-206T>A	LOC129994976, SLC26A2	Single nucleotide variant (5 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GUncertain significance
Select item 352017	NM_000112.4(SLC26A2):c.-183G>C	SLC26A2	Single nucleotide variant (5 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GConflicting classifications of pathogenicity
Select item 352018	NM_000112.4(SLC26A2):c.-163T>C	SLC26A2	Single nucleotide variant (5 prime UTR variant)	Multiple epiphyseal dysplasia type 4 +4 more	GUncertain significance
Select item 352019	NM_000112.4(SLC26A2):c.-162T>C	SLC26A2	Single nucleotide variant (5 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GUncertain significance
Select item 352020	NM_000112.4(SLC26A2):c.-40G>A	SLC26A2	Single nucleotide variant (5 prime UTR variant)	Multiple epiphyseal dysplasia type 4 +4 more	GUncertain significance
Select item 1803123	NM_000112.4(SLC26A2):c.-26+1G>A	SLC26A2	Single nucleotide variant (splice donor variant)	Achondrogenesis, type IB	GLikely pathogenic
Select item 4097	NM_000112.4(SLC26A2):c.-26+2T>C	SLC26A2	Single nucleotide variant (splice donor variant)	Diastrophic dysplasia +7 more	GPathogenic
Select item 671455	NM_000112.4(SLC26A2):c.-25-228G>A	SLC26A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671224	NM_000112.4(SLC26A2):c.-25-131A>G	SLC26A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 550984	NM_000112.4(SLC26A2):c.3G>T (p.Met1Ile)	SLC26A2 (M1I)	Single nucleotide variant (missense variant +1 more)	Multiple epiphyseal dysplasia type 4	GLikely pathogenic
Select item 971526	NM_000112.4(SLC26A2):c.15_19del (p.Ser5fs)	SLC26A2 (S5fs)	Deletion (frameshift variant)	Diastrophic dysplasia +3 more	GPathogenic/Likely pathogenic
Select item 1134866	NM_000112.4(SLC26A2):c.12A>G (p.Glu4=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 1117240	NM_000112.4(SLC26A2):c.15T>C (p.Ser5=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 795522	NM_000112.4(SLC26A2):c.21G>A (p.Glu7=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 195017	NM_000112.4(SLC26A2):c.24A>G (p.Gln8=)	SLC26A2	Single nucleotide variant (synonymous variant)	Atelosteogenesis type II +4 more	GConflicting classifications of pathogenicity
Select item 1990790	NM_000112.4(SLC26A2):c.25C>G (p.His9Asp)	SLC26A2 (H9D)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +4 more	GUncertain significance
Select item 1128568	NM_000112.4(SLC26A2):c.30C>T (p.Asn10=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2436004	NM_000112.4(SLC26A2):c.31G>A (p.Val11Ile)	SLC26A2 (V11I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 56024	NM_000112.4(SLC26A2):c.47C>G (p.Ser16Ter)	SLC26A2 (S16*)	Single nucleotide variant (nonsense)	Achondrogenesis, type IB	GLikely pathogenic
Select item 1969658	NM_000112.4(SLC26A2):c.51T>C (p.Ala17=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 1123471	NM_000112.4(SLC26A2):c.51T>G (p.Ala17=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 1453498	NM_000112.4(SLC26A2):c.58_62dup (p.Asp21fs)	SLC26A2 (D21fs)	Duplication (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic
Select item 56026	NM_000112.4(SLC26A2):c.55G>T (p.Gly19Ter)	SLC26A2 (G19*)	Single nucleotide variant (nonsense)	Multiple epiphyseal dysplasia type 4 +4 more	GPathogenic/Likely pathogenic
Select item 1132885	NM_000112.4(SLC26A2):c.57A>G (p.Gly19=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 555480	NM_000112.4(SLC26A2):c.63_64del (p.Asp21fs)	SLC26A2 (D21fs)	Deletion (frameshift variant)	Multiple epiphyseal dysplasia type 4	GLikely pathogenic
Select item 1454165	NM_000112.4(SLC26A2):c.78_88dup (p.Glu30fs)	SLC26A2 (E30fs)	Duplication (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic
Select item 2938589	NM_000112.4(SLC26A2):c.69T>C (p.Tyr23=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2173257	NM_000112.4(SLC26A2):c.69del (p.Pro24fs)	SLC26A2 (P24fs)	Deletion (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic
Select item 2160009	NM_000112.4(SLC26A2):c.72A>G (p.Pro24=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 1597013	NM_000112.4(SLC26A2):c.72A>C (p.Pro24=)	SLC26A2	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia type 4 +3 more	GLikely benign
Select item 2165609	NM_000112.4(SLC26A2):c.74C>G (p.Ser25Cys)	SLC26A2 (S25C)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +3 more	GUncertain significance
Select item 2944422	NM_000112.4(SLC26A2):c.75T>A (p.Ser25=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 1117637	NM_000112.4(SLC26A2):c.75T>C (p.Ser25=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2936121	NM_000112.4(SLC26A2):c.78G>T (p.Gly26=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 1159074	NM_000112.4(SLC26A2):c.81C>T (p.Ile27=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 64386	NM_000112.4(SLC26A2):c.81C>G (p.Ile27Met)	SLC26A2 (I27M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3163848	NM_000112.4(SLC26A2):c.83A>G (p.His28Arg)	SLC26A2 (H28R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2942420	NM_000112.4(SLC26A2):c.90A>G (p.Glu30=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2947392	NM_000112.4(SLC26A2):c.93T>A (p.Leu31=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2156376	NM_000112.4(SLC26A2):c.95A>T (p.Gln32Leu)	SLC26A2 (Q32L)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +4 more	GUncertain significance
Select item 1154836	NM_000112.4(SLC26A2):c.96A>G (p.Gln32=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 1453452	NM_000112.4(SLC26A2):c.100del (p.Glu34fs)	SLC26A2 (E34fs)	Deletion (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic
Select item 2033441	NM_000112.4(SLC26A2):c.104C>G (p.Ser35Ter)	SLC26A2 (S35*)	Single nucleotide variant (nonsense)	Achondrogenesis, type IB +3 more	GPathogenic
Select item 1093452	NM_000112.4(SLC26A2):c.105A>G (p.Ser35=)	SLC26A2	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia type 4 +3 more	GLikely benign
Select item 1090606	NM_000112.4(SLC26A2):c.105A>T (p.Ser35=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2433422	NM_000112.4(SLC26A2):c.110del (p.Thr37fs)	SLC26A2 (T37fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2678894	NM_000112.4(SLC26A2):c.111del (p.Asp38fs)	SLC26A2 (D38fs)	Deletion (frameshift variant)	Achondrogenesis, type IB	GLikely pathogenic
Select item 618366	NM_000112.4(SLC26A2):c.114C>T (p.Asp38=)	SLC26A2	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 2062726	NM_000112.4(SLC26A2):c.117C>G (p.Phe39Leu)	SLC26A2 (F39L)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +3 more	GUncertain significance
Select item 1159080	NM_000112.4(SLC26A2):c.117C>T (p.Phe39=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2110308	NM_000112.4(SLC26A2):c.118A>T (p.Lys40Ter)	SLC26A2 (K40*)	Single nucleotide variant (nonsense)	Achondrogenesis, type IB +3 more	GPathogenic
Select item 1100158	NM_000112.4(SLC26A2):c.132C>G (p.Thr44=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 1087511	NM_000112.4(SLC26A2):c.132C>A (p.Thr44=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2678878	NM_000112.4(SLC26A2):c.134del (p.Asn45fs)	SLC26A2 (N45fs)	Deletion (frameshift variant)	Achondrogenesis, type IB	GLikely pathogenic
Select item 1445454	NM_000112.4(SLC26A2):c.134A>G (p.Asn45Ser)	SLC26A2 (N45S)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +3 more	GUncertain significance
Select item 3319295	NM_000112.4(SLC26A2):c.136G>T (p.Asp46Tyr)	SLC26A2 (D46Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2922642	NM_000112.4(SLC26A2):c.136_137insTT (p.Asp46fs)	SLC26A2 (D46fs)	Insertion (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic
Select item 964035	NM_000112.4(SLC26A2):c.138dup (p.Gln47fs)	SLC26A2 (Q47fs)	Duplication (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic
Select item 2678877	NM_000112.4(SLC26A2):c.139C>T (p.Gln47Ter)	SLC26A2 (Q47*)	Single nucleotide variant (nonsense)	Achondrogenesis, type IB	GLikely pathogenic
Select item 1104521	NM_000112.4(SLC26A2):c.141A>G (p.Gln47=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2941804	NM_000112.4(SLC26A2):c.144C>T (p.Cys48=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 928889	NM_000112.4(SLC26A2):c.145del (p.Arg49fs)	SLC26A2 (R49fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1000175	NM_000112.4(SLC26A2):c.149C>T (p.Pro50Leu)	SLC26A2 (P50L)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +3 more	GUncertain significance
Select item 1089019	NM_000112.4(SLC26A2):c.159G>A (p.Arg53=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2153576	NM_000112.4(SLC26A2):c.162C>T (p.Ile54=)	SLC26A2	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia type 4 +3 more	GLikely benign
Select item 2678885	NM_000112.4(SLC26A2):c.165_166insCT (p.Ile56fs)	SLC26A2 (I56fs)	Insertion (frameshift variant)	Achondrogenesis, type IB	GLikely pathogenic
Select item 2045282	NM_000112.4(SLC26A2):c.165T>C (p.Leu55=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 1129029	NM_000112.4(SLC26A2):c.171G>A (p.Glu57=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 64383	NM_000112.4(SLC26A2):c.172C>T (p.Arg58Cys)	SLC26A2 (R58C)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 4 +4 more	GConflicting classifications of pathogenicity
Select item 1127220	NM_000112.4(SLC26A2):c.173G>A (p.Arg58His)	SLC26A2 (R58H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1090218	NM_000112.4(SLC26A2):c.177A>G (p.Gln59=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 371772	NM_000112.4(SLC26A2):c.185C>G (p.Ser62Ter)	SLC26A2 (S62*)	Single nucleotide variant (nonsense)	Achondrogenesis, type IB +3 more	GLikely pathogenic
Select item 870763	NM_000112.4(SLC26A2):c.188A>G (p.Asp63Gly)	SLC26A2 (D63G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 371736	NM_000112.4(SLC26A2):c.188del (p.Asp63fs)	SLC26A2 (D63fs)	Deletion (frameshift variant)	Atelosteogenesis type II +3 more	GLikely pathogenic
Select item 1096971	NM_000112.4(SLC26A2):c.193A>G (p.Asn65Asp)	SLC26A2 (N65D)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +5 more	GConflicting classifications of pathogenicity
Select item 1108591	NM_000112.4(SLC26A2):c.196T>C (p.Phe66Leu)	SLC26A2 (F66L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1961692	NM_000112.4(SLC26A2):c.199A>C (p.Lys67Gln)	SLC26A2 (K67Q)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +3 more	GUncertain significance
Select item 1094881	NM_000112.4(SLC26A2):c.204G>A (p.Glu68=)	SLC26A2	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia type 4 +3 more	GLikely benign
Select item 2092769	NM_000112.4(SLC26A2):c.205T>C (p.Phe69Leu)	SLC26A2 (F69L)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +3 more	GUncertain significance
Select item 371687	NM_000112.4(SLC26A2):c.207del (p.Phe69fs)	SLC26A2 (F69fs)	Deletion (frameshift variant)	Atelosteogenesis type II +3 more	GLikely pathogenic
Select item 1105720	NM_000112.4(SLC26A2):c.210T>A (p.Val70=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2106147	NM_000112.4(SLC26A2):c.214A>T (p.Lys72Ter)	SLC26A2 (K72*)	Single nucleotide variant (nonsense)	Achondrogenesis, type IB +3 more	GPathogenic/Likely pathogenic
Select item 1453606	NM_000112.4(SLC26A2):c.218del (p.Lys73fs)	SLC26A2 (K73fs)	Deletion (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic
Select item 1538119	NM_000112.4(SLC26A2):c.216A>G (p.Lys72=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 3240495	NM_000112.4(SLC26A2):c.223del (p.Gln75fs)	SLC26A2 (Q75fs)	Deletion (frameshift variant)	Achondrogenesis, type IB	GLikely pathogenic
Select item 1043792	NM_000112.4(SLC26A2):c.225GAA[1] (p.Lys76del)	SLC26A2 (K76del)	Microsatellite (inframe_deletion)	not provided +4 more	GUncertain significance
Select item 1153773	NM_000112.4(SLC26A2):c.228G>A (p.Lys76=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 281118	NM_000112.4(SLC26A2):c.229A>C (p.Asn77His)	SLC26A2 (N77H)	Single nucleotide variant (missense variant)	Diastrophic dysplasia +6 more	GConflicting classifications of pathogenicity
Select item 371749	NM_000112.4(SLC26A2):c.239_243dup (p.Pro82fs)	SLC26A2 (P82fs)	Duplication (frameshift variant)	Diastrophic dysplasia +3 more	GPathogenic/Likely pathogenic

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