ClinVar for MedGen (Select 860583) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366599	NM_001159773.2(CANT1):c.467C>T (p.Ser156Phe)	CANT1 (S156F)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GPathogenic
Select item 3243529	NC_000016.9:g.(?_17292049)_(17451927_?)del	XYLT1	Deletion	Desbuquois dysplasia 1	GPathogenic
Select item 3235171	NM_001159773.2(CANT1):c.1186G>A (p.Glu396Lys)	CANT1 (E396K)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 3068315	NM_001159773.2(CANT1):c.836G>A (p.Gly279Asp)	CANT1 (G279D)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GLikely pathogenic
Select item 3068314	NM_001159773.2(CANT1):c.1186G>C (p.Glu396Gln)	CANT1 (E396Q)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 3017756	NM_022166.4(XYLT1):c.1371-15C>G	XYLT1	Single nucleotide variant (intron variant)	Desbuquois dysplasia 1	GLikely benign
Select item 3012156	NM_022166.4(XYLT1):c.9G>A (p.Ala3=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 3003867	NM_022166.4(XYLT1):c.952G>A (p.Val318Met)	XYLT1 (V318M)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2991263	NM_022166.4(XYLT1):c.1008C>T (p.Gly336=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2984848	NM_022166.4(XYLT1):c.1587+8T>A	XYLT1	Single nucleotide variant (intron variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2962479	NM_022166.4(XYLT1):c.143G>T (p.Gly48Val)	XYLT1 (G48V)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2955893	NM_022166.4(XYLT1):c.2481C>T (p.His827=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2955115	NM_022166.4(XYLT1):c.1284C>A (p.Pro428=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2920338	NM_022166.4(XYLT1):c.364-9A>G	XYLT1	Single nucleotide variant (intron variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2918182	NM_022166.4(XYLT1):c.228A>T (p.Ala76=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2918040	NM_022166.4(XYLT1):c.1734C>T (p.Asp578=)	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 2911305	NM_022166.4(XYLT1):c.2181C>T (p.Ile727=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2902991	NM_022166.4(XYLT1):c.2319G>A (p.Gly773=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2901641	NM_022166.4(XYLT1):c.1806C>T (p.Ala602=)	LOC102723692, XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2900950	NM_022166.4(XYLT1):c.2098A>G (p.Ile700Val)	XYLT1 (I700V)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2895381	NM_022166.4(XYLT1):c.1221C>T (p.Asp407=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2892350	NM_022166.4(XYLT1):c.537T>C (p.Pro179=)	LOC130058566, XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2884909	NM_022166.4(XYLT1):c.2557+8C>A	XYLT1	Single nucleotide variant (intron variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2884790	NM_022166.4(XYLT1):c.1764+9_1764+10dup	LOC102723692, XYLT1	Duplication (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 2880894	NM_022166.4(XYLT1):c.2607G>A (p.Glu869=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2870101	NM_022166.4(XYLT1):c.2856C>T (p.Val952=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2862925	NM_022166.4(XYLT1):c.22C>G (p.Arg8Gly)	XYLT1 (R8G)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2839210	NM_022166.4(XYLT1):c.183G>A (p.Pro61=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2836090	NM_022166.4(XYLT1):c.1606C>T (p.Leu536=)	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 2819463	NM_022166.4(XYLT1):c.1985G>T (p.Arg662Leu)	LOC102723692, XYLT1 (R662L)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GUncertain significance
Select item 2815091	NM_022166.4(XYLT1):c.649C>T (p.Leu217=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2812653	NM_022166.4(XYLT1):c.888G>A (p.Lys296=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2800111	NM_022166.4(XYLT1):c.2733C>A (p.Gly911=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2799887	NM_022166.4(XYLT1):c.2566C>T (p.Leu856=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2799010	NM_022166.4(XYLT1):c.69G>A (p.Thr23=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2794457	NM_022166.4(XYLT1):c.1510G>T (p.Glu504Ter)	XYLT1 (E504*)	Single nucleotide variant (nonsense)	Desbuquois dysplasia 1	GPathogenic
Select item 2789413	NM_022166.4(XYLT1):c.1677G>A (p.Leu559=)	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 2786529	NM_022166.4(XYLT1):c.1236C>T (p.Thr412=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2780153	NM_001159773.2(CANT1):c.347_348del (p.Glu116fs)	CANT1 (E116fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 2777029	NM_022166.4(XYLT1):c.1764+13C>T	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 2751997	NM_022166.4(XYLT1):c.981A>G (p.Arg327=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2739735	NM_022166.4(XYLT1):c.351C>T (p.Pro117=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2734363	NM_022166.4(XYLT1):c.-110_280del (p.Met1_Gln94del)	XYLT1	Deletion (inframe_deletion +1 more)	Desbuquois dysplasia 1	GPathogenic
Select item 2726229	NM_022166.4(XYLT1):c.2739G>A (p.Met913Ile)	XYLT1 (M913I)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2716664	NM_022166.4(XYLT1):c.1588-9C>T	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 2714739	NM_022166.4(XYLT1):c.906C>T (p.Pro302=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2705813	NM_022166.4(XYLT1):c.1464C>T (p.Ala488=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2701158	NM_022166.4(XYLT1):c.2223+17T>A	XYLT1	Single nucleotide variant (intron variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2646265	NM_022166.4(XYLT1):c.1218G>A (p.Arg406=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1 +1 more	GLikely benign
Select item 2426738	NC_000016.9:g.(?_15758636)_(17564653_?)del	ABCC1, ABCC6 +5 more	Deletion	Desbuquois dysplasia 1	GPathogenic
Select item 2420610	NM_022166.4(XYLT1):c.2558-6T>C	XYLT1	Single nucleotide variant (intron variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2417781	NM_022166.4(XYLT1):c.2050G>A (p.Ala684Thr)	XYLT1 (A684T)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2414992	NM_022166.4(XYLT1):c.2566C>A (p.Leu856Met)	XYLT1 (L856M)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2202572	NM_022166.4(XYLT1):c.517C>G (p.Gln173Glu)	LOC130058566, XYLT1 (Q173E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2199980	NM_022166.4(XYLT1):c.914-16C>G	XYLT1	Single nucleotide variant (intron variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2199979	NM_022166.4(XYLT1):c.2808G>A (p.Thr936=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2198380	NM_022166.4(XYLT1):c.1011T>A (p.Arg337=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2198372	NM_022166.4(XYLT1):c.1275C>T (p.Ala425=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2194534	NM_022166.4(XYLT1):c.2632G>A (p.Val878Ile)	XYLT1 (V878I)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2194209	NM_022166.4(XYLT1):c.2703G>A (p.Ala901=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2194072	NM_022166.4(XYLT1):c.2337C>T (p.Thr779=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2193723	NM_022166.4(XYLT1):c.630G>A (p.Gly210=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GBenign
Select item 2193479	NM_022166.4(XYLT1):c.2145G>A (p.Leu715=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2192871	NM_022166.4(XYLT1):c.1659C>T (p.Thr553=)	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 2182838	NM_022166.4(XYLT1):c.2682C>T (p.Asn894=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2181044	NM_022166.4(XYLT1):c.2545C>T (p.Pro849Ser)	XYLT1 (P849S)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2178517	NM_022166.4(XYLT1):c.822G>A (p.Lys274=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2177917	NM_022166.4(XYLT1):c.195G>C (p.Arg65=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2177099	NM_022166.4(XYLT1):c.2674C>T (p.Arg892Trp)	XYLT1 (R892W)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2173042	NM_022166.4(XYLT1):c.178G>A (p.Ala60Thr)	XYLT1 (A60T)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2168045	NM_022166.4(XYLT1):c.2424C>T (p.Tyr808=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2166781	NM_022166.4(XYLT1):c.121G>C (p.Gly41Arg)	XYLT1 (G41R)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2166418	NM_022166.4(XYLT1):c.403-18C>T	LOC130058566, XYLT1	Single nucleotide variant (intron variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2165433	NM_022166.4(XYLT1):c.282G>A (p.Gln94=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2163466	NM_022166.4(XYLT1):c.2557+20A>G	XYLT1	Single nucleotide variant (intron variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2161840	NM_022166.4(XYLT1):c.2409C>T (p.Ala803=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2160924	NM_022166.4(XYLT1):c.366T>C (p.Asp122=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GBenign
Select item 2156858	NM_022166.4(XYLT1):c.2220C>T (p.Ser740=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2155581	NM_022166.4(XYLT1):c.1588-15C>G	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 2154805	NM_022166.4(XYLT1):c.45C>G (p.His15Gln)	XYLT1 (H15Q)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2150789	NM_022166.4(XYLT1):c.907C>G (p.Leu303Val)	XYLT1 (L303V)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1 +1 more	GUncertain significance
Select item 2150536	NM_022166.4(XYLT1):c.2028-16dup	XYLT1	Duplication (intron variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2146383	NM_022166.4(XYLT1):c.1478C>T (p.Ser493Leu)	XYLT1 (S493L)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2144637	NM_022166.4(XYLT1):c.1601C>T (p.Thr534Met)	LOC102723692, XYLT1 (T534M)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GUncertain significance
Select item 2144632	NM_022166.4(XYLT1):c.809G>A (p.Arg270His)	XYLT1 (R270H)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2144309	NM_022166.4(XYLT1):c.71TGC[5] (p.Leu27_Gln28insLeu)	XYLT1	Microsatellite (inframe_insertion)	Desbuquois dysplasia 1	GUncertain significance
Select item 2142654	NM_022166.4(XYLT1):c.2105A>T (p.His702Leu)	XYLT1 (H702L)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2142099	NM_022166.4(XYLT1):c.2027G>A (p.Arg676Gln)	XYLT1 (R676Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2141573	NM_022166.4(XYLT1):c.1652G>A (p.Arg551His)	LOC102723692, XYLT1 (R551H)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GUncertain significance
Select item 2137795	NM_022166.4(XYLT1):c.2026C>T (p.Arg676Ter)	XYLT1 (R676*)	Single nucleotide variant (nonsense)	Desbuquois dysplasia 1	GPathogenic
Select item 2135168	NM_022166.4(XYLT1):c.2878T>C (p.Ter960Gln)	XYLT1	Single nucleotide variant (stop lost)	Desbuquois dysplasia 1	GUncertain significance
Select item 2118591	NM_022166.4(XYLT1):c.2047C>A (p.Pro683Thr)	XYLT1 (P683T)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2114833	NM_022166.4(XYLT1):c.1765-14T>A	LOC102723692, XYLT1	Single nucleotide variant (intron variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2112312	NM_022166.4(XYLT1):c.2549T>C (p.Ile850Thr)	XYLT1 (I850T)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2111812	NM_022166.4(XYLT1):c.2159T>C (p.Met720Thr)	XYLT1 (M720T)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2111043	NM_022166.4(XYLT1):c.2421C>T (p.His807=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2108625	NM_022166.4(XYLT1):c.2071C>G (p.Leu691Val)	XYLT1 (L691V)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2106529	NM_022166.4(XYLT1):c.422G>A (p.Arg141Gln)	LOC130058566, XYLT1 (R141Q)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2106513	NM_022166.4(XYLT1):c.1224C>T (p.Leu408=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2084140	NM_022166.4(XYLT1):c.2827C>T (p.Pro943Ser)	XYLT1 (P943S)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance

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