CHST14[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 283

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 683321	NM_130468.3(CHST14):c.-571T>C	CHST14	Single nucleotide variant	not provided	GBenign
Select item 1246111	NC_000015.10:g.40470663C>T	CHST14	Single nucleotide variant	not provided	GBenign
Select item 672913	NM_130468.3(CHST14):c.-534A>G	CHST14	Single nucleotide variant	not provided	GLikely benign
Select item 1187665	NM_130468.4(CHST14):c.-185C>T	CHST14, LOC130056850	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 511518	NM_130468.4(CHST14):c.-27C>G	CHST14, LOC130056851	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 390588	NM_130468.4(CHST14):c.-5G>A	CHST14, LOC130056851	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2004232	NM_130468.4(CHST14):c.2T>C (p.Met1Thr)	CHST14, LOC130056851 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1359886	NM_130468.4(CHST14):c.8C>T (p.Pro3Leu)	CHST14, LOC130056851 (P3L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2451983	NM_130468.4(CHST14):c.10C>T (p.Arg4Cys)	CHST14, LOC130056851 (R4C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1004396	NM_130468.4(CHST14):c.11G>C (p.Arg4Pro)	CHST14, LOC130056851 (R4P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 2913792	NM_130468.4(CHST14):c.18G>T (p.Leu6=)	CHST14, LOC130056851	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 1470416	NM_130468.4(CHST14):c.20C>A (p.Thr7Asn)	CHST14, LOC130056851 (T7N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type +2 more	GUncertain significance
Select item 1790711	NM_130468.4(CHST14):c.23C>T (p.Pro8Leu)	CHST14, LOC130056851 (P8L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1045341	NM_130468.4(CHST14):c.32C>T (p.Ala11Val)	CHST14, LOC130056851 (A11V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 1732048	NM_130468.4(CHST14):c.34C>T (p.Pro12Ser)	CHST14, LOC130056851 (P12S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1735034	NM_130468.4(CHST14):c.37A>G (p.Asn13Asp)	CHST14, LOC130056851 (N13D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1740320	NM_130468.4(CHST14):c.43G>T (p.Ala15Ser)	CHST14, LOC130056851 (A15S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1385916	NM_130468.4(CHST14):c.43G>C (p.Ala15Pro)	CHST14, LOC130056851 (A15P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type +1 more	GUncertain significance
Select item 1139697	NM_130468.4(CHST14):c.45C>G (p.Ala15=)	LOC130056851, CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 1312378	NM_130468.4(CHST14):c.46G>A (p.Glu16Lys)	CHST14, LOC130056851 (E16K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1743974	NM_130468.4(CHST14):c.48G>T (p.Glu16Asp)	CHST14, LOC130056851 (E16D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1743964	NM_130468.4(CHST14):c.48G>A (p.Glu16=)	CHST14, LOC130056851	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1744665	NM_130468.4(CHST14):c.49C>T (p.Pro17Ser)	CHST14, LOC130056851 (P17S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1137645	NM_130468.4(CHST14):c.58C>T (p.Arg20Trp)	CHST14, LOC130056851 (R20W)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1750968	NM_130468.4(CHST14):c.59G>C (p.Arg20Pro)	CHST14, LOC130056851 (R20P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1752178	NM_130468.4(CHST14):c.61G>T (p.Ala21Ser)	CHST14, LOC130056851 (A21S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1032377	NM_130468.4(CHST14):c.61G>A (p.Ala21Thr)	CHST14, LOC130056851 (A21T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type 1	GUncertain significance
Select item 1957622	NM_130468.4(CHST14):c.65T>C (p.Leu22Pro)	CHST14, LOC130056851 (L22P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 1757659	NM_130468.4(CHST14):c.71G>T (p.Arg24Leu)	CHST14, LOC130056851 (R24L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1758737	NM_130468.4(CHST14):c.73G>T (p.Ala25Ser)	CHST14, LOC130056851 (A25S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 284430	NM_130468.4(CHST14):c.74C>A (p.Ala25Asp)	CHST14, LOC130056851 (A25D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2447074	NM_130468.4(CHST14):c.75C>G (p.Ala25=)	CHST14, LOC130056851	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 656214	NM_130468.4(CHST14):c.77C>T (p.Pro26Leu)	LOC130056851, CHST14 (P26L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 2447077	NM_130468.4(CHST14):c.78T>C (p.Pro26=)	CHST14, LOC130056851	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2566475	NM_130468.4(CHST14):c.83G>T (p.Gly28Val)	CHST14, LOC130056851 (G28V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2778855	NM_130468.4(CHST14):c.85A>G (p.Arg29Gly)	CHST14, LOC130056851 (R29G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 2451988	NM_130468.4(CHST14):c.88G>A (p.Ala30Thr)	CHST14, LOC130056851 (A30T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2715275	NM_130468.4(CHST14):c.90C>A (p.Ala30=)	CHST14, LOC130056851	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 1767179	NM_130468.4(CHST14):c.94G>C (p.Ala32Pro)	CHST14, LOC130056851 (A32P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2451979	NM_130468.4(CHST14):c.95C>T (p.Ala32Val)	CHST14, LOC130056851 (A32V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2447076	NM_130468.4(CHST14):c.96G>T (p.Ala32=)	CHST14, LOC130056851	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1542629	NM_130468.4(CHST14):c.99G>A (p.Gly33=)	CHST14, LOC130056851	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 1776699	NM_130468.4(CHST14):c.104G>C (p.Gly35Ala)	CHST14, LOC130056851 (G35A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2447075	NM_130468.4(CHST14):c.105T>C (p.Gly35=)	CHST14, LOC130056851	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3031459	NM_130468.4(CHST14):c.110C>A (p.Pro37Gln)	CHST14, LOC130056851 (P37Q)	Single nucleotide variant (missense variant)	CHST14-related condition	GUncertain significance
Select item 1962987	NM_130468.4(CHST14):c.111G>T (p.Pro37=)	CHST14, LOC130056851	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 1556402	NM_130468.4(CHST14):c.111G>C (p.Pro37=)	CHST14, LOC130056851	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1596997	NM_130468.4(CHST14):c.114C>G (p.Pro38=)	CHST14, LOC130056851	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 761518	NM_130468.4(CHST14):c.115C>T (p.Leu39=)	CHST14, LOC130056851	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1674065	NM_130468.4(CHST14):c.117G>A (p.Leu39=)	CHST14, LOC130056851	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 1762736	NM_130468.4(CHST14):c.125C>T (p.Pro42Leu)	CHST14, LOC130056851 (P42L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 593537	NM_130468.4(CHST14):c.125C>G (p.Pro42Arg)	CHST14, LOC130056851 (P42R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 579161	NM_130468.4(CHST14):c.130A>G (p.Met44Val)	CHST14, LOC130056851 (M44V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 2451977	NM_130468.4(CHST14):c.133C>T (p.Leu45=)	CHST14, LOC130056851	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1341603	NM_130468.4(CHST14):c.134T>G (p.Leu45Arg)	CHST14, LOC130056851 (L45R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956213	NM_130468.4(CHST14):c.135G>C (p.Leu45=)	CHST14, LOC130056851	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type +1 more	GLikely benign
Select item 970651	NM_130468.4(CHST14):c.138G>C (p.Met46Ile)	CHST14, LOC130056851 (M46I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 281584	NM_130468.4(CHST14):c.143C>T (p.Ala48Val)	CHST14, LOC130056851 (A48V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2336	NM_130468.4(CHST14):c.145del (p.Ala48_Val49insTer)	CHST14, LOC130056851	Deletion (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 468548	NM_130468.4(CHST14):c.148A>T (p.Ile50Phe)	CHST14, LOC130056851 (I50F)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 1510690	NM_130468.4(CHST14):c.151G>A (p.Val51Met)	CHST14, LOC130056851 (V51M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 702717	NM_130468.4(CHST14):c.151G>C (p.Val51Leu)	CHST14, LOC130056851 (V51L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1190749	NM_130468.4(CHST14):c.156_166del (p.Ser53fs)	CHST14, LOC130056851 (S53fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2056351	NM_130468.4(CHST14):c.155C>T (p.Ala52Val)	CHST14, LOC130056851 (A52V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 641726	NM_130468.4(CHST14):c.158C>A (p.Ser53Tyr)	CHST14, LOC130056851 (S53Y)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 575403	NM_130468.4(CHST14):c.160dup (p.Ser54fs)	CHST14, LOC130056851 (S54fs)	Duplication (frameshift variant)	Ehlers-Danlos syndrome, musculocontractural type	GPathogenic
Select item 1071798	NM_130468.4(CHST14):c.171del (p.Leu58fs)	CHST14, LOC130056851 (L58fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, musculocontractural type	GPathogenic
Select item 1017964	NM_130468.4(CHST14):c.173T>C (p.Leu58Pro)	CHST14, LOC130056851 (L58P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 746295	NM_130468.4(CHST14):c.174C>T (p.Leu58=)	CHST14, LOC130056851	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1643403	NM_130468.4(CHST14):c.180C>T (p.Ile60=)	CHST14, LOC130056851	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 1781138	NM_130468.4(CHST14):c.183G>C (p.Glu61Asp)	CHST14 (E61D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 751818	NM_130468.4(CHST14):c.183G>A (p.Glu61=)	CHST14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2451986	NM_130468.4(CHST14):c.186G>T (p.Arg62=)	CHST14	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1313413	NM_130468.4(CHST14):c.188G>A (p.Gly63Asp)	CHST14 (G63D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1782231	NM_130468.4(CHST14):c.189C>A (p.Gly63=)	CHST14	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1141942	NM_130468.4(CHST14):c.189C>T (p.Gly63=)	CHST14	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 967018	NM_130468.4(CHST14):c.196G>A (p.Ala66Thr)	CHST14 (A66T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 499908	NM_130468.4(CHST14):c.198C>G (p.Ala66=)	CHST14	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1968908	NM_130468.4(CHST14):c.202A>G (p.Met68Val)	CHST14 (M68V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 2341	NM_130468.4(CHST14):c.205A>T (p.Lys69Ter)	CHST14 (K69*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, musculocontractural type 1	GPathogenic
Select item 1166318	NM_130468.4(CHST14):c.210C>T (p.Pro70=)	CHST14	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 2482064	NM_130468.4(CHST14):c.212T>C (p.Leu71Pro)	CHST14 (L71P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2725332	NM_130468.4(CHST14):c.216C>T (p.Pro72=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 705915	NM_130468.4(CHST14):c.217C>T (p.Leu73=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 426194	NM_130468.4(CHST14):c.224C>A (p.Pro75Gln)	CHST14 (P75Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155591	NM_130468.4(CHST14):c.228C>A (p.Pro76=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type +1 more	GLikely benign
Select item 3016955	NM_130468.4(CHST14):c.234C>G (p.Arg78=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 597719	NM_130468.4(CHST14):c.239G>A (p.Gly80Asp)	CHST14 (G80D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1493165	NM_130468.4(CHST14):c.245C>G (p.Ala82Gly)	CHST14 (A82G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 663357	NM_130468.4(CHST14):c.250C>A (p.Arg84Ser)	CHST14 (R84S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type +1 more	GUncertain significance
Select item 710696	NM_130468.4(CHST14):c.252C>T (p.Arg84=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 1621985	NM_130468.4(CHST14):c.255G>A (p.Gly85=)	CHST14	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1949857	NM_130468.4(CHST14):c.264del (p.Lys89fs)	CHST14 (K89fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, musculocontractural type	GPathogenic
Select item 807210	NM_130468.4(CHST14):c.275del (p.Gly92fs)	CHST14 (G92fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 536423	NM_130468.4(CHST14):c.275G>T (p.Gly92Val)	CHST14 (G92V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 1064228	NM_130468.4(CHST14):c.283C>T (p.Leu95Phe)	CHST14 (L95F)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 210731	NM_130468.4(CHST14):c.288G>A (p.Arg96=)	CHST14	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2562247	NM_130468.4(CHST14):c.289G>C (p.Ala97Pro)	CHST14 (A97P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1468512	NM_130468.4(CHST14):c.293G>A (p.Gly98Glu)	CHST14 (G98E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1798035	NM_130468.4(CHST14):c.294G>A (p.Gly98=)	CHST14	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign

<< First< Prev

Page of 3