"Ambry Genetics"[submitter] AND "CHST14"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 +1 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 3267221	NM_130468.4(CHST14):c.29C>T (p.Ala10Val)	CHST14, LOC130056851 (A10V)	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 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)	Cardiovascular phenotype +1 more	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)	Cardiovascular phenotype +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 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 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)	CHST14, LOC130056851 (P26L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	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 3229042	NM_130468.4(CHST14):c.86G>T (p.Arg29Met)	CHST14, LOC130056851 (R29M)	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 2715275	NM_130468.4(CHST14):c.90C>A (p.Ala30=)	CHST14, LOC130056851	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type +1 more	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 1776699	NM_130468.4(CHST14):c.104G>C (p.Gly35Ala)	CHST14, LOC130056851 (G35A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type +1 more	GUncertain significance
Select item 2447075	NM_130468.4(CHST14):c.105T>C (p.Gly35=)	LOC130056851, CHST14	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	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 3229030	NM_130468.4(CHST14):c.113C>G (p.Pro38Arg)	CHST14, LOC130056851 (P38R)	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 593537	NM_130468.4(CHST14):c.125C>G (p.Pro42Arg)	CHST14, LOC130056851 (P42R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3229031	NM_130468.4(CHST14):c.127T>C (p.Ser43Pro)	CHST14, LOC130056851 (S43P)	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 1956213	NM_130468.4(CHST14):c.135G>C (p.Leu45=)	CHST14, LOC130056851	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 970651	NM_130468.4(CHST14):c.138G>C (p.Met46Ile)	CHST14, LOC130056851 (M46I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3229032	NM_130468.4(CHST14):c.143C>A (p.Ala48Glu)	CHST14, LOC130056851 (A48E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 281584	NM_130468.4(CHST14):c.143C>T (p.Ala48Val)	CHST14, LOC130056851 (A48V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3229033	NM_130468.4(CHST14):c.146T>G (p.Val49Gly)	CHST14, LOC130056851 (V49G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 702717	NM_130468.4(CHST14):c.151G>C (p.Val51Leu)	CHST14, LOC130056851 (V51L)	Single nucleotide variant (missense variant)	not provided +2 more	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 2451986	NM_130468.4(CHST14):c.186G>T (p.Arg62=)	CHST14	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 499908	NM_130468.4(CHST14):c.198C>G (p.Ala66=)	CHST14	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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)	Cardiovascular phenotype	GUncertain significance
Select item 3229034	NM_130468.4(CHST14):c.228C>T (p.Pro76=)	CHST14	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2155591	NM_130468.4(CHST14):c.228C>A (p.Pro76=)	CHST14	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 597719	NM_130468.4(CHST14):c.239G>A (p.Gly80Asp)	CHST14 (G80D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type +2 more	GUncertain significance
Select item 663357	NM_130468.4(CHST14):c.250C>A (p.Arg84Ser)	CHST14 (R84S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
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 3144722	NM_130468.4(CHST14):c.258A>T (p.Lys86Asn)	CHST14 (K86N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 210731	NM_130468.4(CHST14):c.288G>A (p.Arg96=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type +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
Select item 3253265	NM_130468.4(CHST14):c.298G>A (p.Ala100Thr)	CHST14 (A100T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2429543	NM_130468.4(CHST14):c.301G>A (p.Asp101Asn)	CHST14 (D101N)	Single nucleotide variant (missense variant)	not provided +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 772547	NM_130468.4(CHST14):c.315G>A (p.Arg105=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type +2 more	GConflicting classifications of pathogenicity
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 2451984	NM_130468.4(CHST14):c.352G>A (p.Gly118Arg)	CHST14 (G118R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2566471	NM_130468.4(CHST14):c.371G>A (p.Arg124Gln)	CHST14 (R124Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1736109	NM_130468.4(CHST14):c.390G>A (p.Pro130=)	CHST14	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 501222	NM_130468.4(CHST14):c.398A>C (p.Gln133Pro)	CHST14 (Q133P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GUncertain significance
Select item 840958	NM_130468.4(CHST14):c.400C>T (p.Arg134Trp)	CHST14 (R134W)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type +1 more	GUncertain significance
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 3229035	NM_130468.4(CHST14):c.434A>G (p.Asp145Gly)	CHST14 (D145G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 828118	NM_130468.4(CHST14):c.436C>G (p.Arg146Gly)	CHST14 (R146G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 453025	NM_130468.4(CHST14):c.439T>C (p.Tyr147His)	CHST14 (Y147H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2267145	NM_130468.4(CHST14):c.446T>C (p.Phe149Ser)	CHST14 (F149S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 710526	NM_130468.4(CHST14):c.447C>T (p.Phe149=)	CHST14	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2451978	NM_130468.4(CHST14):c.448C>T (p.Leu150Phe)	CHST14 (L150F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1498860	NM_130468.4(CHST14):c.467A>G (p.Lys156Arg)	CHST14 (K156R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 536424	NM_130468.4(CHST14):c.471G>A (p.Val157=)	CHST14	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 2528960	NM_130468.4(CHST14):c.472G>T (p.Ala158Ser)	CHST14 (A158S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3229036	NM_130468.4(CHST14):c.480T>C (p.Ser160=)	CHST14	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 193483	NM_130468.4(CHST14):c.491G>A (p.Arg164Gln)	CHST14 (R164Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 943538	NM_130468.4(CHST14):c.507_508delinsTT (p.Ala170Ser)	CHST14 (A170S)	Indel (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 746786	NM_130468.4(CHST14):c.507G>T (p.Leu169=)	CHST14	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 750289	NM_130468.4(CHST14):c.537C>T (p.Arg179=)	CHST14	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 650778	NM_130468.4(CHST14):c.548A>G (p.Asp183Gly)	CHST14 (D183G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 713138	NM_130468.4(CHST14):c.567G>A (p.Val189=)	CHST14	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign
Select item 508780	NM_130468.4(CHST14):c.582G>A (p.Leu194=)	CHST14	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1026315	NM_130468.4(CHST14):c.592G>A (p.Glu198Lys)	CHST14 (E198K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type +1 more	GUncertain significance
Select item 1750677	NM_130468.4(CHST14):c.594G>C (p.Glu198Asp)	CHST14 (E198D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3229037	NM_130468.4(CHST14):c.611A>G (p.Gln204Arg)	CHST14 (Q204R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1046240	NM_130468.4(CHST14):c.612G>T (p.Gln204His)	CHST14 (Q204H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type +1 more	GUncertain significance
Select item 2447072	NM_130468.4(CHST14):c.628C>T (p.Leu210=)	CHST14	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 373593	NM_130468.4(CHST14):c.635T>C (p.Val212Ala)	CHST14 (V212A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 3229038	NM_130468.4(CHST14):c.640G>A (p.Glu214Lys)	CHST14 (E214K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1077417	NM_130468.4(CHST14):c.642G>A (p.Glu214=)	CHST14	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, musculocontractural type +1 more	GLikely benign
Select item 1754067	NM_130468.4(CHST14):c.652C>T (p.Arg218Cys)	CHST14 (R218C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2451980	NM_130468.4(CHST14):c.654C>T (p.Arg218=)	CHST14	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2451981	NM_130468.4(CHST14):c.655C>T (p.Leu219Phe)	CHST14 (L219F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2273554	NM_130468.4(CHST14):c.665C>T (p.Ala222Val)	CHST14 (A222V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 938765	NM_130468.4(CHST14):c.685G>A (p.Glu229Lys)	CHST14 (E229K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type +1 more	GUncertain significance
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

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