ClinVar for MedGen (Select 356497) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2986177	NM_130468.4(CHST14):c.312G>T (p.Val104=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 2973234	NM_130468.4(CHST14):c.834T>C (p.His278=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 2970101	NM_130468.4(CHST14):c.714G>C (p.Gly238=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 2963009	NM_130468.4(CHST14):c.681T>C (p.Phe227=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
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 2897952	NM_130468.4(CHST14):c.336C>G (p.Thr112=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 2891353	NM_130468.4(CHST14):c.747G>T (p.Ala249=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 2836581	NM_130468.4(CHST14):c.315del (p.Gln106fs)	CHST14 (Q106fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, musculocontractural type	GPathogenic
Select item 2813007	NM_130468.4(CHST14):c.1033del (p.Arg345fs)	CHST14 (R345fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, musculocontractural type	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 2758622	NM_130468.4(CHST14):c.783del (p.Glu262fs)	CHST14 (E262fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, musculocontractural type	GPathogenic
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 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 2566472	NM_130468.4(CHST14):c.1062G>A (p.Lys354=)	CHST14	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2419890	NM_130468.4(CHST14):c.516C>T (p.Val172=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 2413515	NM_130468.4(CHST14):c.651A>G (p.Glu217=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 2200914	NM_130468.4(CHST14):c.948A>G (p.Pro316=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 2198008	NM_130468.4(CHST14):c.382G>C (p.Asp128His)	CHST14 (D128H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 2195975	NM_130468.4(CHST14):c.536G>A (p.Arg179His)	CHST14 (R179H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 2194515	NM_130468.4(CHST14):c.999C>T (p.Pro333=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 2190757	NM_130468.4(CHST14):c.299C>T (p.Ala100Val)	CHST14 (A100V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 2186955	NM_130468.4(CHST14):c.513C>T (p.Gly171=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
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 2092310	NM_130468.4(CHST14):c.629T>C (p.Leu210Pro)	CHST14 (L210P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 2086314	NM_130468.4(CHST14):c.1038C>T (p.Ala346=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 2086225	NM_130468.4(CHST14):c.1016A>G (p.His339Arg)	CHST14 (H339R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
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 1971283	NM_130468.4(CHST14):c.676_682delinsGCTATGGGGCT (p.Lys226fs)	CHST14 (K226fs)	Indel (frameshift variant)	Ehlers-Danlos syndrome, musculocontractural type	GPathogenic
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 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 1959331	NM_130468.4(CHST14):c.935G>T (p.Trp312Leu)	CHST14 (W312L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	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 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 1952211	NM_130468.4(CHST14):c.1004G>T (p.Ser335Ile)	CHST14 (S335I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 1949857	NM_130468.4(CHST14):c.264del (p.Lys89fs)	CHST14 (K89fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, musculocontractural type	GPathogenic
Select item 1937598	NM_130468.4(CHST14):c.486G>A (p.Trp162Ter)	CHST14 (W162*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, musculocontractural type	GPathogenic
Select item 1932725	NM_130468.4(CHST14):c.693A>T (p.Arg231=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	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 1763498	NM_130468.4(CHST14):c.846G>A (p.Val282=)	CHST14	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
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 1739335	NM_130468.4(CHST14):c.427G>A (p.Val143Ile)	CHST14 (V143I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1728292	NM_130468.4(CHST14):c.315G>T (p.Arg105=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type +1 more	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 1671277	NM_130468.4(CHST14):c.580C>T (p.Leu194=)	CHST14	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 1622615	NM_130468.4(CHST14):c.993C>A (p.Ala331=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type +1 more	GBenign/Likely 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 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 1592259	NM_130468.4(CHST14):c.303C>T (p.Asp101=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 1586580	NM_130468.4(CHST14):c.1086T>C (p.Phe362=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 1582886	NM_130468.4(CHST14):c.409C>T (p.Leu137=)	CHST14	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 1521246	NM_130468.4(CHST14):c.501G>C (p.Lys167Asn)	CHST14 (K167N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 1516406	NM_130468.4(CHST14):c.401G>A (p.Arg134Gln)	CHST14 (R134Q)	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 1501364	NM_130468.4(CHST14):c.732G>C (p.Arg244=)	CHST14	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1498860	NM_130468.4(CHST14):c.467A>G (p.Lys156Arg)	CHST14 (K156R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	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 1492161	NM_130468.4(CHST14):c.1117G>T (p.Ala373Ser)	CHST14 (A373S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1482217	NM_130468.4(CHST14):c.871G>A (p.Val291Met)	CHST14 (V291M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 1473545	NM_130468.4(CHST14):c.861G>A (p.Gln287=)	CHST14	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1471370	NM_130468.4(CHST14):c.763G>C (p.Gly255Arg)	CHST14 (G255R)	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 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 1449679	NM_130468.4(CHST14):c.922C>A (p.Gln308Lys)	CHST14 (Q308K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type +1 more	GUncertain significance
Select item 1445824	NM_130468.4(CHST14):c.933G>C (p.Glu311Asp)	CHST14 (E311D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type +2 more	GUncertain significance
Select item 1439786	NM_130468.4(CHST14):c.642G>C (p.Glu214Asp)	CHST14 (E214D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 1438044	NC_000015.9:g.(?_40763403)_(40764553_?)dup	CHST14	Duplication	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 1435425	NM_130468.4(CHST14):c.325C>T (p.Arg109Trp)	CHST14 (R109W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1432104	NM_130468.4(CHST14):c.977C>T (p.Ala326Val)	CHST14 (A326V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 1428002	NM_130468.4(CHST14):c.919A>G (p.Asn307Asp)	CHST14 (N307D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type +1 more	GUncertain significance
Select item 1423379	NM_130468.4(CHST14):c.704A>G (p.Gln235Arg)	CHST14 (Q235R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 1420273	NM_130468.4(CHST14):c.448C>G (p.Leu150Val)	CHST14 (L150V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 1412674	NC_000015.9:g.(?_40763413)_(40764543_?)dup	CHST14	Duplication	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance
Select item 1411929	NM_130468.4(CHST14):c.692G>A (p.Arg231Gln)	CHST14 (R231Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type +1 more	GUncertain significance
Select item 1411870	NM_130468.4(CHST14):c.378C>G (p.Pro126=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 1399368	NM_130468.4(CHST14):c.686A>G (p.Glu229Gly)	CHST14 (E229G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 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 1352288	NM_130468.4(CHST14):c.536G>C (p.Arg179Pro)	CHST14 (R179P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	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 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 1159480	NM_130468.4(CHST14):c.978C>T (p.Ala326=)	CHST14	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1148372	NM_130468.4(CHST14):c.984C>T (p.Tyr328=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 1145049	NM_130468.4(CHST14):c.822C>G (p.Arg274=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	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 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 1133228	NM_130468.4(CHST14):c.462C>T (p.Val154=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 1128150	NM_130468.4(CHST14):c.801G>C (p.Leu267=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 1123163	NM_130468.4(CHST14):c.609G>T (p.Leu203=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 1106308	NM_130468.4(CHST14):c.843C>T (p.Pro281=)	CHST14	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1091105	NM_130468.4(CHST14):c.297C>T (p.Asp99=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 1085246	NM_130468.4(CHST14):c.1101T>C (p.Pro367=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	GLikely benign
Select item 1077417	NM_130468.4(CHST14):c.642G>A (p.Glu214=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type	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 1064228	NM_130468.4(CHST14):c.283C>T (p.Leu95Phe)	CHST14 (L95F)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type	GUncertain significance

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