ClinVar for MedGen (Select 373381) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3065004	NM_004273.5(CHST3):c.911G>C (p.Arg304Pro)	CHST3 (R304P)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely pathogenic
Select item 3064422	NM_004273.5(CHST3):c.808dup (p.Met270fs)	CHST3 (M270fs)	Duplication (frameshift variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 3061778	NM_004273.5(CHST3):c.857T>A (p.Leu286Gln)	CHST3 (L286Q)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely pathogenic
Select item 3015981	NM_004273.5(CHST3):c.1260C>T (p.Asn420=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2995365	NM_004273.5(CHST3):c.588C>T (p.Phe196=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2994011	NM_004273.5(CHST3):c.1318_1327del (p.Val440fs)	CHST3 (V440fs)	Deletion (frameshift variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2988377	NM_004273.5(CHST3):c.1408C>T (p.Leu470=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2981355	NM_004273.5(CHST3):c.618C>T (p.Phe206=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
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 2920455	NM_004273.5(CHST3):c.915C>A (p.Ala305=)	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 2901213	NM_004273.5(CHST3):c.1404C>T (p.Ser468=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
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 2889671	NM_004273.5(CHST3):c.1017G>A (p.Gln339=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2889670	NM_004273.5(CHST3):c.903C>G (p.Arg301=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2889669	NM_004273.5(CHST3):c.795C>G (p.Arg265=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2885428	NM_004273.5(CHST3):c.465G>C (p.Gln155His)	CHST3 (Q155H)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GBenign
Select item 2874979	NM_004273.5(CHST3):c.906C>T (p.Asp302=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2868693	NM_004273.5(CHST3):c.1251G>A (p.Thr417=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2861373	NM_004273.5(CHST3):c.705G>C (p.Thr235=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
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 2821233	NM_004273.5(CHST3):c.534C>T (p.Gly178=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2796590	NM_004273.5(CHST3):c.1350C>G (p.Leu450=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
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 2754702	NM_004273.5(CHST3):c.1293C>T (p.Ser431=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
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 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 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 2725241	NM_004273.5(CHST3):c.840G>A (p.Leu280=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2708183	NM_004273.5(CHST3):c.780C>T (p.Ala260=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
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 2696000	NM_004273.5(CHST3):c.928C>A (p.Arg310Ser)	CHST3 (R310S)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2585014	NM_004273.5(CHST3):c.947del (p.Gly316fs)	CHST3 (G316fs)	Deletion (frameshift variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
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 2428495	NM_004273.5(CHST3):c.431G>A (p.Gly144Asp)	CHST3 (G144D)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely pathogenic
Select item 2428494	NM_004273.5(CHST3):c.976dup (p.Asp326fs)	CHST3 (D326fs)	Duplication (frameshift variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic
Select item 2198938	NM_004273.5(CHST3):c.845T>A (p.Phe282Tyr)	CHST3 (F282Y)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2194872	NM_004273.5(CHST3):c.1263C>G (p.Ser421=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
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 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 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 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 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 2180830	NM_004273.5(CHST3):c.993C>T (p.Asp331=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2178671	NM_004273.5(CHST3):c.594C>T (p.Cys198=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2177427	NM_004273.5(CHST3):c.1275C>T (p.Phe425=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
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 2176177	NM_004273.5(CHST3):c.530G>C (p.Gly177Ala)	CHST3 (G177A)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2175291	NM_004273.5(CHST3):c.445G>A (p.Gly149Ser)	CHST3 (G149S)	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 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 2174458	NM_004273.5(CHST3):c.1332C>T (p.Cys444=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +1 more	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 2173003	NM_004273.5(CHST3):c.368C>T (p.Pro123Leu)	CHST3 (P123L)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2167101	NM_004273.5(CHST3):c.1263C>T (p.Ser421=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2156518	NM_004273.5(CHST3):c.469A>G (p.Asn157Asp)	CHST3 (N157D)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2156014	NM_004273.5(CHST3):c.711C>T (p.Phe237=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
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 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 2153996	NM_004273.5(CHST3):c.597C>A (p.Asp199Glu)	CHST3 (D199E)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	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 2153598	NM_004273.5(CHST3):c.549C>T (p.Gly183=)	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 2140959	NM_004273.5(CHST3):c.1365G>A (p.Leu455=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2136895	NM_004273.5(CHST3):c.1367C>A (p.Ala456Glu)	CHST3 (A456E)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2136894	NM_004273.5(CHST3):c.791G>A (p.Cys264Tyr)	CHST3 (C264Y)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2136893	NM_004273.5(CHST3):c.661C>T (p.Arg221Cys)	CHST3 (R221C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2133759	NM_004273.5(CHST3):c.929G>C (p.Arg310Pro)	CHST3 (R310P)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2133662	NM_004273.5(CHST3):c.1036G>A (p.Glu346Lys)	CHST3 (E346K)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2133077	NM_004273.5(CHST3):c.1204C>G (p.Gln402Glu)	CHST3 (Q402E)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2129700	NM_004273.5(CHST3):c.1185G>T (p.Pro395=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2116882	NM_004273.5(CHST3):c.976G>A (p.Asp326Asn)	CHST3 (D326N)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2116139	NM_004273.5(CHST3):c.759C>T (p.Gly253=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2113311	NM_004273.5(CHST3):c.1128C>T (p.Arg376=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2108037	NM_004273.5(CHST3):c.552G>A (p.Ser184=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2101103	NM_004273.5(CHST3):c.1165G>A (p.Ala389Thr)	CHST3 (A389T)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2097692	NM_004273.5(CHST3):c.1326C>T (p.Ala442=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2092309	NM_004273.5(CHST3):c.720G>A (p.Lys240=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2088593	NM_004273.5(CHST3):c.434C>T (p.Ser145Phe)	CHST3 (S145F)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2087753	NM_004273.5(CHST3):c.855del (p.Leu286fs)	CHST3 (L286fs)	Deletion (frameshift variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic
Select item 2083762	NM_004273.5(CHST3):c.901C>T (p.Arg301Cys)	CHST3 (R301C)	Single nucleotide variant (missense variant)	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 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 2055024	NM_004273.5(CHST3):c.268C>T (p.Leu90Phe)	CHST3 (L90F)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2052596	NM_004273.5(CHST3):c.492G>A (p.Pro164=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2049567	NM_004273.5(CHST3):c.1368G>C (p.Ala456=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2033328	NM_004273.5(CHST3):c.945C>T (p.Ala315=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2031689	NM_004273.5(CHST3):c.849G>C (p.Leu283=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
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 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 2015793	NM_004273.5(CHST3):c.1264T>C (p.Ser422Pro)	CHST3 (S422P)	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 2013402	NM_004273.5(CHST3):c.812C>T (p.Ala271Val)	CHST3 (A271V)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2012821	NM_004273.5(CHST3):c.1151A>G (p.Glu384Gly)	CHST3 (E384G)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2006079	NM_004273.5(CHST3):c.633C>G (p.Pro211=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2005129	NM_004273.5(CHST3):c.697G>A (p.Val233Ile)	CHST3 (V233I)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2002093	NM_004273.5(CHST3):c.505G>A (p.Glu169Lys)	CHST3 (E169K)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2001648	NM_004273.5(CHST3):c.877G>T (p.Asp293Tyr)	CHST3 (D293Y)	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

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