CHST3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 877218	NM_004273.5(CHST3):c.-300C>G	CHST3	Single nucleotide variant (5 prime UTR variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 300548	NM_004273.5(CHST3):c.-294C>G	CHST3	Single nucleotide variant (5 prime UTR variant)	Larsen syndrome +4 more	GBenign
Select item 300549	NM_004273.5(CHST3):c.-274G>T	CHST3	Single nucleotide variant (5 prime UTR variant)	Skeletal dysplasia +3 more	GLikely benign
Select item 300550	NM_004273.5(CHST3):c.-270del	CHST3	Deletion (5 prime UTR variant)	Skeletal dysplasia +3 more	GLikely benign
Select item 300551	NM_004273.5(CHST3):c.-265C>G	CHST3	Single nucleotide variant (5 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 878258	NM_004273.5(CHST3):c.-164C>T	CHST3	Single nucleotide variant (5 prime UTR variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 300552	NM_004273.5(CHST3):c.-131G>A	CHST3	Single nucleotide variant (5 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300553	NM_004273.5(CHST3):c.-108+6T>G	CHST3	Single nucleotide variant (intron variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 1254668	NM_004273.5(CHST3):c.-107-281T>C	CHST3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 878259	NM_004273.5(CHST3):c.-98G>A	CHST3	Single nucleotide variant (5 prime UTR variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 300554	NM_004273.5(CHST3):c.-51G>A	CHST3	Single nucleotide variant (5 prime UTR variant)	Larsen syndrome +3 more	GUncertain significance
Select item 2177095	NM_004273.5(CHST3):c.2T>C (p.Met1Thr)	CHST3 (M1T)	Single nucleotide variant (missense variant +1 more)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 300555	NM_004273.5(CHST3):c.7A>C (p.Lys3Gln)	CHST3 (K3Q)	Single nucleotide variant (missense variant)	Larsen syndrome +4 more	GUncertain significance
Select item 282999	NM_004273.5(CHST3):c.7A>G (p.Lys3Glu)	CHST3 (K3E)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +1 more	GUncertain significance
Select item 1026534	NM_004273.5(CHST3):c.11G>A (p.Gly4Glu)	CHST3 (G4E)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1477983	NM_004273.5(CHST3):c.19T>A (p.Leu7Met)	CHST3 (L7M)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2372180	NM_004273.5(CHST3):c.22C>T (p.Pro8Ser)	CHST3 (P8S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2154433	NM_004273.5(CHST3):c.34C>T (p.Arg12Trp)	CHST3 (R12W)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2074484	NM_004273.5(CHST3):c.36G>A (p.Arg12=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2173804	NM_004273.5(CHST3):c.37G>A (p.Asp13Asn)	CHST3 (D13N)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1605353	NM_004273.5(CHST3):c.48C>T (p.His16=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2149422	NM_004273.5(CHST3):c.54G>T (p.Leu18=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 1996399	NM_004273.5(CHST3):c.58_77dup (p.Leu26_Phe27insTer)	CHST3	Duplication (nonsense +1 more)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic
Select item 1176876	NM_004273.5(CHST3):c.72C>T (p.Tyr24=)	CHST3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2189368	NM_004273.5(CHST3):c.84_98dup (p.Val32_Ile33insMetValPheValVal)	CHST3	Duplication (inframe_insertion)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2083760	NM_004273.5(CHST3):c.83T>A (p.Leu28Ter)	CHST3 (L28*)	Single nucleotide variant (nonsense)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic
Select item 1351695	NM_004273.5(CHST3):c.85G>T (p.Val29Phe)	CHST3 (V29F)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2189372	NM_004273.5(CHST3):c.100G>A (p.Val34Ile)	CHST3 (V34I)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 776518	NM_004273.5(CHST3):c.108C>G (p.Val36=)	CHST3	Single nucleotide variant (synonymous variant)	Larsen-like syndrome, B3GAT3 type +2 more	GBenign/Likely benign
Select item 1546470	NM_004273.5(CHST3):c.111C>T (p.Phe37=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 1156567	NM_004273.5(CHST3):c.114C>T (p.Ile38=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 1406214	NM_004273.5(CHST3):c.133A>T (p.Ile45Leu)	CHST3 (I45L)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1252450	NM_004273.5(CHST3):c.140+33T>G	CHST3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223882	NM_004273.5(CHST3):c.140+255A>G	CHST3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2973905	NM_004273.5(CHST3):c.141-17C>T	CHST3	Single nucleotide variant (intron variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2183414	NM_004273.5(CHST3):c.141-14C>T	CHST3	Single nucleotide variant (intron variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2431679	NM_004273.5(CHST3):c.141-1_141inv	CHST3	Inversion (splice acceptor variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely pathogenic
Select item 1685635	NM_004273.5(CHST3):c.141-1G>C	CHST3	Single nucleotide variant (splice acceptor variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic
Select item 2707124	NM_004273.5(CHST3):c.162G>C (p.Gln54His)	CHST3 (Q54H)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 871056	NM_004273.5(CHST3):c.168_186dup (p.Asn63fs)	CHST3 (N63fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 546274	NM_004273.5(CHST3):c.167C>A (p.Pro56His)	CHST3 (P56H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1536609	NM_004273.5(CHST3):c.168C>G (p.Pro56=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2189675	NM_004273.5(CHST3):c.175C>T (p.Leu59=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 1491709	NM_004273.5(CHST3):c.182A>G (p.Asp61Gly)	CHST3 (D61G)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 3075971	NM_004273.5(CHST3):c.195del (p.Asp66fs)	CHST3 (D66fs)	Deletion (frameshift variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely pathogenic
Select item 878863	NM_004273.5(CHST3):c.195C>T (p.Thr65=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GConflicting classifications of pathogenicity
Select item 1358925	NM_004273.5(CHST3):c.196G>A (p.Asp66Asn)	CHST3 (D66N)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2013758	NM_004273.5(CHST3):c.201A>T (p.Pro67=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 290059	NM_004273.5(CHST3):c.202G>A (p.Ala68Thr)	CHST3 (A68T)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +1 more	GUncertain significance
Select item 3065955	NM_004273.5(CHST3):c.223G>T (p.Ala75Ser)	CHST3 (A75S)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1458337	NM_004273.5(CHST3):c.238del (p.Ser79_Leu80insTer)	CHST3	Deletion (nonsense)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic
Select item 2017805	NM_004273.5(CHST3):c.243C>T (p.Ser81=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 300556	NM_004273.5(CHST3):c.244G>A (p.Glu82Lys)	CHST3 (E82K)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +3 more	GUncertain significance
Select item 2859830	NM_004273.5(CHST3):c.255A>T (p.Ser85=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2055024	NM_004273.5(CHST3):c.268C>T (p.Leu90Phe)	CHST3 (L90F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 964544	NM_004273.5(CHST3):c.269T>C (p.Leu90Pro)	CHST3 (L90P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1445618	NM_004273.5(CHST3):c.271C>T (p.Gln91Ter)	CHST3 (Q91*)	Single nucleotide variant (nonsense)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic
Select item 300557	NM_004273.5(CHST3):c.276C>A (p.Ser92Arg)	CHST3 (S92R)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +4 more	GUncertain significance
Select item 2892357	NM_004273.5(CHST3):c.279T>C (p.Arg93=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 1020950	NM_004273.5(CHST3):c.295T>A (p.Leu99Met)	CHST3 (L99M)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2174485	NM_004273.5(CHST3):c.296T>C (p.Leu99Ser)	CHST3 (L99S)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 747688	NM_004273.5(CHST3):c.306C>A (p.Gly102=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 300558	NM_004273.5(CHST3):c.306C>T (p.Gly102=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +3 more	GConflicting classifications of pathogenicity
Select item 1989775	NM_004273.5(CHST3):c.307G>A (p.Val103Met)	CHST3 (V103M)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 196376	NM_004273.5(CHST3):c.311A>G (p.Glu104Gly)	CHST3 (E104G)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +1 more	GUncertain significance
Select item 969495	NM_004273.5(CHST3):c.313C>G (p.Pro105Ala)	CHST3 (P105A)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2194067	NM_004273.5(CHST3):c.316G>A (p.Ala106Thr)	CHST3 (A106T)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1384426	NM_004273.5(CHST3):c.320T>A (p.Met107Lys)	CHST3 (M107K)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1965065	NM_004273.5(CHST3):c.322G>A (p.Glu108Lys)	CHST3 (E108K)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2001538	NM_004273.5(CHST3):c.327C>T (p.Ala109=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 1939972	NM_004273.5(CHST3):c.328G>A (p.Ala110Thr)	CHST3 (A110T)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1414025	NM_004273.5(CHST3):c.334G>A (p.Glu112Lys)	CHST3 (E112K)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1039079	NM_004273.5(CHST3):c.334G>T (p.Glu112Ter)	CHST3 (E112*)	Single nucleotide variant (nonsense)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic
Select item 1429973	NM_004273.5(CHST3):c.340G>C (p.Glu114Gln)	CHST3 (E114Q)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1370268	NM_004273.5(CHST3):c.347A>G (p.Glu116Gly)	CHST3 (E116G)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1570116	NM_004273.5(CHST3):c.348G>A (p.Glu116=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 300559	NM_004273.5(CHST3):c.348G>T (p.Glu116Asp)	CHST3 (E116D)	Single nucleotide variant (missense variant)	Larsen syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2788403	NM_004273.5(CHST3):c.360G>A (p.Glu120=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 1406206	NM_004273.5(CHST3):c.362dup (p.Glu122fs)	CHST3 (E122fs)	Duplication (frameshift variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic
Select item 2173003	NM_004273.5(CHST3):c.368C>T (p.Pro123Leu)	CHST3 (P123L)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +1 more	GUncertain significance
Select item 2028477	NM_004273.5(CHST3):c.375_378dup (p.Ala127fs)	CHST3 (A127fs)	Duplication (frameshift variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic
Select item 2154553	NM_004273.5(CHST3):c.377C>T (p.Pro126Leu)	CHST3 (P126L)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1521785	NM_004273.5(CHST3):c.377C>A (p.Pro126Gln)	CHST3 (P126Q)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2748878	NM_004273.5(CHST3):c.378G>C (p.Pro126=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2727367	NM_004273.5(CHST3):c.378G>T (p.Pro126=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 1548203	NM_004273.5(CHST3):c.381C>T (p.Ala127=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 1644263	NM_004273.5(CHST3):c.382G>C (p.Val128Leu)	CHST3 (V128L)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2730517	NM_004273.5(CHST3):c.384G>A (p.Val128=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2906097	NM_004273.5(CHST3):c.386C>A (p.Ala129Glu)	CHST3 (A129E)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2174789	NM_004273.5(CHST3):c.386C>T (p.Ala129Val)	CHST3 (A129V)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 300560	NM_004273.5(CHST3):c.394C>G (p.Arg132Gly)	CHST3 (R132G)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +3 more	GUncertain significance
Select item 2153837	NM_004273.5(CHST3):c.395G>A (p.Arg132Gln)	CHST3 (R132Q)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1393967	NM_004273.5(CHST3):c.398G>A (p.Arg133His)	CHST3 (R133H)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 196378	NM_004273.5(CHST3):c.417C>T (p.Ala139=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia congenita +4 more	GConflicting classifications of pathogenicity
Select item 6048	NM_004273.5(CHST3):c.422C>T (p.Thr141Met)	CHST3 (T141M)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance

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