ClinVar for MedGen (Select 78647) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065155	NM_000343.4(SLC5A1):c.1478T>A (p.Leu493His)	SLC5A1 (L366H +1 more)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 3017095	NM_000343.4(SLC5A1):c.862T>C (p.Leu288=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 3016810	NM_000343.4(SLC5A1):c.477+15C>T	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 3010679	NM_000343.4(SLC5A1):c.478-13C>T	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 3009929	NM_000343.4(SLC5A1):c.948G>A (p.Leu316=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 3003699	NM_000343.4(SLC5A1):c.1450-5del	SLC5A1	Deletion (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 3002573	NM_000343.4(SLC5A1):c.75T>C (p.Asn25=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2997803	NM_000343.4(SLC5A1):c.1518T>C (p.Tyr506=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2996199	NM_000343.4(SLC5A1):c.419G>A (p.Arg140Gln)	SLC5A1 (R13Q +1 more)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2994168	NM_000343.4(SLC5A1):c.264C>T (p.Ala88=)	SLC5A1	Single nucleotide variant (synonymous variant +1 more)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2993114	NM_000343.4(SLC5A1):c.1557G>C (p.Thr519=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2992882	NM_000343.4(SLC5A1):c.135+14T>G	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2988170	NM_000343.4(SLC5A1):c.1182G>A (p.Leu394=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2983611	NM_000343.4(SLC5A1):c.207+19G>C	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2980809	NM_000343.4(SLC5A1):c.1771+14C>G	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2980256	NM_000343.4(SLC5A1):c.171C>T (p.Gly57=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2966744	NM_000343.4(SLC5A1):c.1280+7G>T	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2961138	NM_000343.4(SLC5A1):c.135+16T>G	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2918628	NM_000343.4(SLC5A1):c.1281-8_1281-4dup	SLC5A1	Duplication (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2917858	NM_000343.4(SLC5A1):c.1203C>T (p.Ala401=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2917803	NM_000343.4(SLC5A1):c.1941C>T (p.Val647=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2916932	NM_000343.4(SLC5A1):c.123C>T (p.Ala41=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2916204	NM_000343.4(SLC5A1):c.1771+20A>G	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2916059	NM_000343.4(SLC5A1):c.573C>T (p.Tyr191=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2913545	NM_000343.4(SLC5A1):c.162T>C (p.Thr54=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2895889	NM_000343.4(SLC5A1):c.373-8C>T	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2893547	NM_000343.4(SLC5A1):c.1404G>C (p.Ala468=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2893210	NM_000343.4(SLC5A1):c.665-12G>A	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2887028	NM_000343.4(SLC5A1):c.33C>T (p.Thr11=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2883668	NM_000343.4(SLC5A1):c.885+20G>A	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GBenign
Select item 2883558	NM_000343.4(SLC5A1):c.519A>G (p.Leu173=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2883013	NM_000343.4(SLC5A1):c.492G>T (p.Ser164=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2874504	NM_000343.4(SLC5A1):c.1665+19G>C	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2863287	NM_000343.4(SLC5A1):c.1191C>T (p.Ile397=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2855323	NM_000343.4(SLC5A1):c.208-20A>C	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2850313	NM_000343.4(SLC5A1):c.915G>A (p.Lys305=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2829655	NM_000343.4(SLC5A1):c.478-15C>T	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2820703	NM_000343.4(SLC5A1):c.1683G>A (p.Trp561Ter)	SLC5A1 (W434* +1 more)	Single nucleotide variant (nonsense)	Congenital glucose-galactose malabsorption	GPathogenic
Select item 2817379	NM_000343.4(SLC5A1):c.1002C>T (p.Ile334=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2812666	NM_000343.4(SLC5A1):c.673G>T (p.Glu225Ter)	SLC5A1 (E225* +1 more)	Single nucleotide variant (nonsense)	Congenital glucose-galactose malabsorption	GPathogenic
Select item 2802289	NM_000343.4(SLC5A1):c.135+9C>T	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2800411	NM_000343.4(SLC5A1):c.665-2A>G	SLC5A1	Single nucleotide variant (splice acceptor variant)	Congenital glucose-galactose malabsorption	GLikely pathogenic
Select item 2790354	NM_000343.4(SLC5A1):c.1689G>A (p.Leu563=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2786601	NM_000343.4(SLC5A1):c.474C>A (p.Ile158=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2777928	NM_000343.4(SLC5A1):c.1872G>A (p.Glu624=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2770008	NM_000343.4(SLC5A1):c.1581G>A (p.Leu527=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2757044	NM_000343.4(SLC5A1):c.336G>A (p.Leu112=)	SLC5A1	Single nucleotide variant (synonymous variant +1 more)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2749445	NM_000343.4(SLC5A1):c.1623C>T (p.Ile541=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2745737	NM_000343.4(SLC5A1):c.323T>C (p.Leu108Ser)	SLC5A1 (L108S)	Single nucleotide variant (missense variant +1 more)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2742700	NM_000343.4(SLC5A1):c.1833G>A (p.Gly611=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2741664	NM_000343.4(SLC5A1):c.987G>T (p.Val329=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2741587	NM_000343.4(SLC5A1):c.208-16T>C	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2728289	NM_000343.4(SLC5A1):c.1666-10T>C	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2727962	NM_000343.4(SLC5A1):c.1008C>T (p.Arg336=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2727866	NM_000343.4(SLC5A1):c.208-9C>T	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2722484	NM_000343.4(SLC5A1):c.1889T>A (p.Met630Lys)	SLC5A1 (M503K +1 more)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2720969	NM_000343.4(SLC5A1):c.54G>A (p.Glu18=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2715665	NM_000343.4(SLC5A1):c.1315G>A (p.Ala439Thr)	SLC5A1 (A312T +1 more)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2715176	NM_000343.4(SLC5A1):c.812C>T (p.Thr271Met)	SLC5A1 (T271M +1 more)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2707483	NM_000343.4(SLC5A1):c.1666-13G>A	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2441823	NM_000343.4(SLC5A1):c.1281G>T (p.Arg427Ser)	SLC5A1 (R300S +1 more)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2436062	NM_000343.4(SLC5A1):c.194T>C (p.Met65Thr)	SLC5A1 (M65T)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2431781	NM_000343.4(SLC5A1):c.1666-2del	SLC5A1	Deletion (splice acceptor variant)	Congenital glucose-galactose malabsorption	GPathogenic
Select item 2422939	NC_000022.10:g.(?_32477833)_(32506200_?)dup	SLC5A1	Duplication	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2422938	NC_000022.10:g.(?_32500753)_(32894517_?)dup	BPIFC, C22orf42 +7 more	Duplication	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2422937	NC_000022.10:g.(?_32439269)_(32506200_?)dup	SLC5A1	Duplication	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2413399	NM_000343.4(SLC5A1):c.372G>A (p.Gly124=)	SLC5A1	Single nucleotide variant (synonymous variant +1 more)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2200906	NM_000343.4(SLC5A1):c.372+15T>G	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2199605	NM_000343.4(SLC5A1):c.1771+3G>A	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GBenign
Select item 2196356	NM_000343.4(SLC5A1):c.690C>T (p.Asp230=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2194660	NM_000343.4(SLC5A1):c.1962C>T (p.Thr654=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2184464	NM_000343.4(SLC5A1):c.312+19A>G	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2175642	NM_000343.4(SLC5A1):c.1236G>A (p.Lys412=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2173710	NM_000343.4(SLC5A1):c.1179C>T (p.Ser393=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2171572	NM_000343.4(SLC5A1):c.1038C>T (p.Val346=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2167091	NM_000343.4(SLC5A1):c.1506T>C (p.Thr502=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2165326	NM_000343.4(SLC5A1):c.942C>T (p.Cys314=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2163195	NM_000343.4(SLC5A1):c.231T>C (p.Ser77=)	SLC5A1	Single nucleotide variant (synonymous variant +1 more)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2160114	NM_000343.4(SLC5A1):c.1449A>G (p.Pro483=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2156844	NM_000343.4(SLC5A1):c.1845C>T (p.His615=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2154695	NM_000343.4(SLC5A1):c.885+19C>T	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2153685	NM_000343.4(SLC5A1):c.1022-7T>C	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2152747	NM_000343.4(SLC5A1):c.330T>G (p.Val110=)	SLC5A1	Single nucleotide variant (synonymous variant +1 more)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2152332	NM_000343.4(SLC5A1):c.265G>A (p.Gly89Arg)	SLC5A1 (G89R)	Single nucleotide variant (missense variant +1 more)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2149341	NM_000343.4(SLC5A1):c.597G>A (p.Ala199=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2149222	NM_000343.4(SLC5A1):c.312+18C>A	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2144536	NM_000343.4(SLC5A1):c.420G>A (p.Arg140=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2142325	NM_000343.4(SLC5A1):c.708C>T (p.Tyr236=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2139986	NM_000343.4(SLC5A1):c.665-13C>T	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2138440	NM_000343.4(SLC5A1):c.1672C>T (p.Arg558Cys)	SLC5A1 (R558C +1 more)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2138439	NM_000343.4(SLC5A1):c.1496G>A (p.Arg499His)	SLC5A1 (R372H +1 more)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GLikely pathogenic
Select item 2138438	NM_000343.4(SLC5A1):c.1403C>T (p.Ala468Val)	SLC5A1 (A468V +1 more)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2132368	NM_000343.4(SLC5A1):c.1886AGATGA[3] (p.Met632_Thr633insLysMet)	SLC5A1	Microsatellite (inframe_insertion)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2127298	NM_000343.4(SLC5A1):c.1339G>A (p.Ala447Thr)	SLC5A1 (A447T +1 more)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2117344	NM_000343.4(SLC5A1):c.1674T>C (p.Arg558=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2110179	NM_000343.4(SLC5A1):c.357C>T (p.Ile119=)	SLC5A1	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2109089	NM_000343.4(SLC5A1):c.885+16G>A	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2108933	NM_000343.4(SLC5A1):c.1088A>G (p.Asn363Ser)	SLC5A1 (N363S +1 more)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 2108176	NM_000343.4(SLC5A1):c.531G>A (p.Leu177=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 2105855	NM_000343.4(SLC5A1):c.102C>T (p.Ile34=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign

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