ClinVar for MedGen (Select 350953) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341371	NM_017947.4(MOCOS):c.2367del (p.Glu790fs)	MOCOS (E790fs)	Deletion (frameshift variant)	Xanthinuria type II	GLikely pathogenic
Select item 3247317	NC_000002.11:g.(?_31595262)_(31600062_?)del	XDH	Deletion	Xanthinuria type II	GLikely pathogenic
Select item 3247316	NC_000002.11:g.(?_31621419)_(31624214_?)del	XDH	Deletion	Xanthinuria type II	GPathogenic
Select item 3065846	NM_017947.4(MOCOS):c.2271-1G>A	MOCOS	Single nucleotide variant (splice acceptor variant)	Xanthinuria type II	GLikely pathogenic
Select item 3022334	NM_000379.4(XDH):c.496-14C>A	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 3019262	NM_000379.4(XDH):c.2457-12G>A	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GUncertain significance
Select item 3013546	NM_000379.4(XDH):c.1686+15T>C	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 3012830	NM_000379.4(XDH):c.1590G>T (p.Glu530Asp)	XDH (E530D)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 3012368	NM_000379.4(XDH):c.1662C>T (p.Pro554=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 3008121	NM_017947.4(MOCOS):c.42del (p.Phe15fs)	MOCOS (F15fs)	Deletion (frameshift variant)	Xanthinuria type II	GPathogenic
Select item 3006464	NM_000379.4(XDH):c.1104T>C (p.Ser368=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 3001290	NM_017947.4(MOCOS):c.1018+17A>G	MOCOS	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 3001027	NM_000379.4(XDH):c.1038+13C>G	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2994942	NM_000379.4(XDH):c.1949G>C (p.Cys650Ser)	XDH (C650S)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2982746	NM_000379.4(XDH):c.3520-14G>T	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2975504	NM_000379.4(XDH):c.1089C>T (p.Pro363=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2975216	NM_017947.4(MOCOS):c.204C>T (p.Phe68=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2965834	NM_017947.4(MOCOS):c.1740G>A (p.Gly580=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2918237	NM_000379.4(XDH):c.2751dup (p.Pro918fs)	XDH (P918fs)	Duplication (frameshift variant)	Xanthinuria type II	GPathogenic
Select item 2917053	NM_000379.4(XDH):c.150_155del (p.Cys51_Thr52del)	XDH	Deletion (inframe_deletion)	Xanthinuria type II	GUncertain significance
Select item 2915226	NM_000379.4(XDH):c.2545-20C>T	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2914207	NM_000379.4(XDH):c.3908C>T (p.Pro1303Leu)	XDH (P1303L)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2912417	NM_000379.4(XDH):c.3774+17T>A	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2912159	NM_000379.4(XDH):c.3233C>T (p.Thr1078Met)	XDH (T1078M)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2912071	NM_000379.4(XDH):c.3148-19A>G	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2911539	NM_000379.4(XDH):c.3576T>C (p.Asp1192=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2911407	NM_000379.4(XDH):c.2544+19G>A	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2908524	NM_000379.4(XDH):c.3549T>G (p.Val1183=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2904657	NM_000379.4(XDH):c.3277-18G>T	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2904323	NM_017947.4(MOCOS):c.232+1G>A	MOCOS	Single nucleotide variant (splice donor variant)	Xanthinuria type II	GLikely pathogenic
Select item 2898640	NM_000379.4(XDH):c.3276+19C>T	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2895813	NM_000379.4(XDH):c.3404+17C>T	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2888522	NM_000379.4(XDH):c.2545-5A>G	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2886816	NM_000379.4(XDH):c.1981-10C>T	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2870170	NM_000379.4(XDH):c.657G>A (p.Leu219=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2868162	NM_000379.4(XDH):c.101-8C>T	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2868102	NM_000379.4(XDH):c.547C>T (p.Gln183Ter)	XDH (Q183*)	Single nucleotide variant (nonsense)	Xanthinuria type II	GPathogenic
Select item 2863584	NM_000379.4(XDH):c.3351+10A>C	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2851820	NM_017947.4(MOCOS):c.1336-5_1336-4insAA	MOCOS	Insertion (intron variant)	Xanthinuria type II	GLikely benign
Select item 2850902	NM_017947.4(MOCOS):c.1257A>T (p.Arg419=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2835594	NM_017947.4(MOCOS):c.2268del (p.Ser757fs)	MOCOS (S757fs)	Deletion (frameshift variant)	Xanthinuria type II	GPathogenic
Select item 2833333	NM_017947.4(MOCOS):c.1960+2_1960+3del	MOCOS	Deletion (splice donor variant)	Xanthinuria type II	GLikely pathogenic
Select item 2824585	NM_017947.4(MOCOS):c.300-13G>A	MOCOS	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2798637	NM_000379.4(XDH):c.366G>A (p.Met122Ile)	XDH (M122I)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2795324	NM_000379.4(XDH):c.198-4C>T	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2789865	NM_017947.4(MOCOS):c.603A>T (p.Pro201=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2787816	NM_000379.4(XDH):c.793+20C>T	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2786341	NM_000379.4(XDH):c.3615C>A (p.Gly1205=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2769500	NM_000379.4(XDH):c.697C>T (p.Arg233Cys)	XDH (R233C)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2766206	NM_000379.4(XDH):c.2145C>T (p.Ile715=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2759442	NM_000379.4(XDH):c.915G>C (p.Leu305=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2753562	NM_000379.4(XDH):c.1428-18C>T	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2744635	NM_000379.4(XDH):c.575C>A (p.Ser192Ter)	XDH (S192*)	Single nucleotide variant (nonsense)	Xanthinuria type II	GPathogenic
Select item 2743120	NM_000379.4(XDH):c.134del (p.Glu45fs)	XDH (E45fs)	Deletion (frameshift variant)	Xanthinuria type II	GPathogenic
Select item 2740406	NM_017947.4(MOCOS):c.1219-5C>T	MOCOS	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2739132	NM_017947.4(MOCOS):c.687G>A (p.Thr229=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2737978	NM_000379.4(XDH):c.3147+12T>C	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2737939	NM_000379.4(XDH):c.793+19G>T	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2732574	NM_017947.4(MOCOS):c.2541T>C (p.His847=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2731646	NM_000379.4(XDH):c.468C>T (p.Ile156=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2731122	NM_000379.4(XDH):c.3768A>T (p.Ala1256=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2731116	NM_000379.4(XDH):c.2473C>T (p.Arg825Ter)	XDH (R825*)	Single nucleotide variant (nonsense)	Xanthinuria type II	GPathogenic
Select item 2729453	NM_000379.4(XDH):c.481C>T (p.Arg161Trp)	XDH (R161W)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2728921	NM_017947.4(MOCOS):c.1335+18C>T	MOCOS	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2726830	NM_000379.4(XDH):c.100+15G>C	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2726794	NM_017947.4(MOCOS):c.627C>G (p.Val209=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2726226	NM_017947.4(MOCOS):c.567C>T (p.Asn189=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2726223	NM_000379.4(XDH):c.1455C>T (p.Asp485=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2724560	NM_017947.4(MOCOS):c.972T>C (p.Asp324=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2721530	NM_017947.4(MOCOS):c.2040-16C>G	MOCOS	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2717614	NM_000379.4(XDH):c.1980+19del	XDH	Deletion (intron variant)	Xanthinuria type II	GBenign
Select item 2715181	NM_000379.4(XDH):c.401C>T (p.Pro134Leu)	XDH (P134L)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2714769	NM_000379.4(XDH):c.565-14C>G	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2712832	NM_017947.4(MOCOS):c.819C>T (p.Gly273=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2712758	NM_017947.4(MOCOS):c.1018+9A>T	MOCOS	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2712070	NM_000379.4(XDH):c.1856+13G>A	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2708372	NM_000379.4(XDH):c.434-4A>G	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2706999	NM_017947.4(MOCOS):c.1311C>T (p.Asn437=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2696842	NM_017947.4(MOCOS):c.1019-15C>T	MOCOS	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2696779	NM_000379.4(XDH):c.851_862del (p.Ile284_Leu287del)	XDH	Deletion (inframe_deletion)	Xanthinuria type II	GUncertain significance
Select item 2433778	NM_017947.4(MOCOS):c.296A>G (p.Tyr99Cys)	MOCOS (Y99C)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2433777	NM_017947.4(MOCOS):c.929C>T (p.Ser310Leu)	MOCOS (S310L)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2433776	NM_017947.4(MOCOS):c.1106C>A (p.Ala369Asp)	MOCOS (A369D)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GUncertain significance
Select item 2428066	NM_000379.4(XDH):c.2465G>A (p.Arg822His)	XDH (R822H)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2427913	NM_000379.4(XDH):c.1683C>T (p.Phe561=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GUncertain significance
Select item 2426177	NM_017947.4(MOCOS):c.2514+6C>T	MOCOS	Single nucleotide variant (intron variant)	Xanthinuria type II	GUncertain significance
Select item 2422982	NC_000002.11:g.(?_31587004)_(31587130_?)del	XDH	Deletion	Xanthinuria type II	GUncertain significance
Select item 2422981	NC_000002.11:g.(?_31588418)_(31589011_?)del	XDH	Deletion	Xanthinuria type II	GPathogenic
Select item 2422980	NC_000002.11:g.(?_31558824)_(31637532_?)del	XDH	Deletion	Xanthinuria type II	GPathogenic
Select item 2422941	NC_000002.11:g.(?_31598226)_(31805969_?)dup	SRD5A2, XDH	Duplication	Xanthinuria type II +1 more	GUncertain significance
Select item 2418940	NM_000379.4(XDH):c.3276+3A>G	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GUncertain significance
Select item 2417609	NM_000379.4(XDH):c.364A>T (p.Met122Leu)	XDH (M122L)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2416766	NM_000379.4(XDH):c.3401A>G (p.Tyr1134Cys)	XDH (Y1134C)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2416083	NM_000379.4(XDH):c.794-12G>A	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2415430	NM_000379.4(XDH):c.751C>T (p.Gln251Ter)	XDH (Q251*)	Single nucleotide variant (nonsense)	Hereditary xanthinuria type 1 +1 more	GPathogenic/Likely pathogenic
Select item 2414603	NM_000379.4(XDH):c.1212G>A (p.Leu404=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2202678	NM_000379.4(XDH):c.909C>T (p.Cys303=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2199898	NM_017947.4(MOCOS):c.462C>A (p.Ser154=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2199879	NM_000379.4(XDH):c.2323-9C>T	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2199379	NM_000379.4(XDH):c.2173T>G (p.Ser725Ala)	XDH (S725A)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance

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