Related gene-specific medical variations for Gene (Select 113189) - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 2566475	NM_130468.4(CHST14):c.83G>T (p.Gly28Val)	CHST14, LOC130056851 (G28V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 2451983	NM_130468.4(CHST14):c.10C>T (p.Arg4Cys)	CHST14, LOC130056851 (R4C)	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 2451977	NM_130468.4(CHST14):c.133C>T (p.Leu45=)	CHST14, LOC130056851	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 2447076	NM_130468.4(CHST14):c.96G>T (p.Ala32=)	CHST14, LOC130056851	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 2447074	NM_130468.4(CHST14):c.75C>G (p.Ala25=)	CHST14, LOC130056851	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 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 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 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 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 1790711	NM_130468.4(CHST14):c.23C>T (p.Pro8Leu)	CHST14, LOC130056851 (P8L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 1767179	NM_130468.4(CHST14):c.94G>C (p.Ala32Pro)	CHST14, LOC130056851 (A32P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 1758737	NM_130468.4(CHST14):c.73G>T (p.Ala25Ser)	CHST14, LOC130056851 (A25S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 1752178	NM_130468.4(CHST14):c.61G>T (p.Ala21Ser)	CHST14, LOC130056851 (A21S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 1744665	NM_130468.4(CHST14):c.49C>T (p.Pro17Ser)	CHST14, LOC130056851 (P17S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 1740320	NM_130468.4(CHST14):c.43G>T (p.Ala15Ser)	CHST14, LOC130056851 (A15S)	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 1732048	NM_130468.4(CHST14):c.34C>T (p.Pro12Ser)	CHST14, LOC130056851 (P12S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 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 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 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 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 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 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 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 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 1341603	NM_130468.4(CHST14):c.134T>G (p.Leu45Arg)	CHST14, LOC130056851 (L45R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1187665	NM_130468.4(CHST14):c.-185C>T	CHST14, LOC130056850	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
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 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 1071798	NM_130468.4(CHST14):c.171del (p.Leu58fs)	CHST14, LOC130056851 (L58fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, musculocontractural type	GPathogenic
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 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 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 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 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 761518	NM_130468.4(CHST14):c.115C>T (p.Leu39=)	CHST14, LOC130056851	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 575403	NM_130468.4(CHST14):c.160dup (p.Ser54fs)	CHST14, LOC130056851 (S54fs)	Duplication (frameshift variant)	Ehlers-Danlos syndrome, musculocontractural type	GPathogenic
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 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 390588	NM_130468.4(CHST14):c.-5G>A	CHST14, LOC130056851	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
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 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 242816	NM_130468.4(CHST14):c.403C>G (p.Arg135Gly)	CHST14 (R135G)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 242734	NM_130468.4(CHST14):c.410T>A (p.Leu137Gln)	CHST14 (L137Q)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2336	NM_130468.4(CHST14):c.145del (p.Ala48_Val49insTer)	CHST14, LOC130056851	Deletion (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 69