ClinVar for Gene (Select 26503) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 650

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3226223	NM_012434.5(SLC17A5):c.1137G>A (p.Leu379=)	SLC17A5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3163194	NM_012434.5(SLC17A5):c.568G>A (p.Ala190Thr)	SLC17A5 (A113T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163193	NM_012434.5(SLC17A5):c.521G>A (p.Gly174Glu)	SLC17A5 (G174E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163192	NM_012434.5(SLC17A5):c.1473T>G (p.His491Gln)	SLC17A5 (H414Q +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163191	NM_012434.5(SLC17A5):c.13G>A (p.Val5Ile)	LOC129996727, SLC17A5 (V5I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068445	NM_012434.5(SLC17A5):c.467_525+125del	SLC17A5	Deletion (splice donor variant)	Sialic acid storage disease, severe infantile type	GLikely pathogenic
Select item 3022498	NM_012434.5(SLC17A5):c.1050C>T (p.Asp350=)	SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease	GLikely benign
Select item 3022415	NM_012434.5(SLC17A5):c.94+1G>A	LOC129996727, SLC17A5	Single nucleotide variant (splice donor variant)	Salla disease	GLikely pathogenic
Select item 3021240	NM_012434.5(SLC17A5):c.978+16C>T	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 3016473	NM_012434.5(SLC17A5):c.614-13T>C	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 3016457	NM_012434.5(SLC17A5):c.94+9C>A	LOC129996727, SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 3014584	NM_012434.5(SLC17A5):c.1452C>T (p.Asn484=)	SLC17A5 (T454I +1 more)	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 3013714	NM_012434.5(SLC17A5):c.978+13_978+15del	SLC17A5	Microsatellite (intron variant)	Salla disease	GLikely benign
Select item 3011748	NM_012434.5(SLC17A5):c.1479C>T (p.His493=)	SLC17A5 (T463I +1 more)	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 3010030	NM_012434.5(SLC17A5):c.1131A>T (p.Val377=)	SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease	GLikely benign
Select item 3009083	NM_012434.5(SLC17A5):c.1111+8A>T	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 3008539	NM_012434.5(SLC17A5):c.292-15T>C	LOC132089454, SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 3008530	NM_012434.5(SLC17A5):c.614-8T>C	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 3006933	NM_012434.5(SLC17A5):c.95-20T>G	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 3003836	NM_012434.5(SLC17A5):c.978+17_978+19del	SLC17A5	Microsatellite (intron variant)	Salla disease	GLikely benign
Select item 3000406	NM_012434.5(SLC17A5):c.95-19T>C	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2989529	NM_012434.5(SLC17A5):c.526-19T>C	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2983222	NM_012434.5(SLC17A5):c.95-13A>T	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2980069	NM_012434.5(SLC17A5):c.1259+12T>C	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2977291	NM_012434.5(SLC17A5):c.613+12A>G	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2969884	NM_012434.5(SLC17A5):c.627G>A (p.Gly209=)	SLC17A5	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 2961060	NM_012434.5(SLC17A5):c.262G>C (p.Ala88Pro)	SLC17A5 (A88P +1 more)	Single nucleotide variant (missense variant +1 more)	Salla disease	GUncertain significance
Select item 2917438	NM_012434.5(SLC17A5):c.291+16dup	SLC17A5	Duplication (intron variant)	Salla disease	GBenign
Select item 2916655	NM_012434.5(SLC17A5):c.700+12A>T	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2912494	NM_012434.5(SLC17A5):c.933A>G (p.Leu311=)	SLC17A5	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 2909755	NM_012434.5(SLC17A5):c.1259+11A>G	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2909750	NM_012434.5(SLC17A5):c.813A>G (p.Arg271=)	SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease	GLikely benign
Select item 2905767	NM_012434.5(SLC17A5):c.627G>T (p.Gly209=)	SLC17A5	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 2903750	NM_012434.5(SLC17A5):c.45G>A (p.Glu15=)	LOC129996727, SLC17A5 (R4K)	Single nucleotide variant (missense variant +1 more)	Salla disease	GLikely benign
Select item 2903420	NM_012434.5(SLC17A5):c.1351-15dup	SLC17A5	Duplication (intron variant)	Salla disease	GBenign
Select item 2901444	NM_012434.5(SLC17A5):c.979-12T>C	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2898661	NM_012434.5(SLC17A5):c.1111+16A>G	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2894080	NM_012434.5(SLC17A5):c.526-18_526-16del	SLC17A5	Deletion (intron variant)	Salla disease	GLikely benign
Select item 2891846	NM_012434.5(SLC17A5):c.1del (p.Met1*)	LOC129996727, SLC17A5	Deletion (5 prime UTR variant +2 more)	Salla disease	GPathogenic
Select item 2891763	NM_012434.5(SLC17A5):c.1260-15A>G	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2884484	NM_012434.5(SLC17A5):c.701-14T>C	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2884416	NM_012434.5(SLC17A5):c.447C>T (p.Leu149=)	SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease	GLikely benign
Select item 2881286	NM_012434.5(SLC17A5):c.1112-12T>C	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2880231	NM_012434.5(SLC17A5):c.978+18T>A	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2877929	NM_012434.5(SLC17A5):c.96T>A (p.Ala32=)	SLC17A5	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 2877260	NM_012434.5(SLC17A5):c.1111+17G>A	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2863680	NM_012434.5(SLC17A5):c.1317T>C (p.Val439=)	SLC17A5	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 2859712	NM_012434.5(SLC17A5):c.441T>A (p.Ala147=)	SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease	GLikely benign
Select item 2857163	NM_012434.5(SLC17A5):c.1176C>A (p.Ala392=)	SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease	GLikely benign
Select item 2856377	NM_012434.5(SLC17A5):c.606A>T (p.Ser202=)	SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease	GLikely benign
Select item 2854127	NM_012434.5(SLC17A5):c.609T>C (p.Tyr203=)	SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease	GLikely benign
Select item 2852322	NM_012434.5(SLC17A5):c.927G>A (p.Leu309=)	SLC17A5	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 2850562	NM_012434.5(SLC17A5):c.3del (p.Met1fs)	LOC129996727, SLC17A5 (M1fs)	Deletion (5 prime UTR variant +2 more)	Salla disease	GPathogenic
Select item 2847457	NM_012434.5(SLC17A5):c.613+14T>C	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2846006	NM_012434.5(SLC17A5):c.178C>T (p.Leu60=)	SLC17A5	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 2845673	NM_012434.5(SLC17A5):c.1086del (p.Cys362fs)	SLC17A5 (C361fs +6 more)	Deletion (frameshift variant)	Salla disease	GPathogenic
Select item 2844789	NM_012434.5(SLC17A5):c.614-14dup	SLC17A5	Duplication (intron variant)	Salla disease	GLikely benign
Select item 2844604	NM_012434.5(SLC17A5):c.1350+15T>C	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2842924	NM_012434.5(SLC17A5):c.156T>C (p.Ile52=)	SLC17A5	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 2842071	NM_012434.5(SLC17A5):c.231T>C (p.Asn77=)	SLC17A5	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 2839865	NM_012434.5(SLC17A5):c.120C>T (p.Tyr40=)	SLC17A5	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 2836247	NM_012434.5(SLC17A5):c.613+19A>T	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2835299	NM_012434.5(SLC17A5):c.291+14T>C	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2834793	NM_012434.5(SLC17A5):c.1302T>G (p.Thr434=)	SLC17A5	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 2832241	NM_012434.5(SLC17A5):c.1259+8C>G	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2829908	NM_012434.5(SLC17A5):c.1112-14C>T	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2829250	NM_012434.5(SLC17A5):c.321T>G (p.Thr107=)	LOC132089454, SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease	GLikely benign
Select item 2827248	NM_012434.5(SLC17A5):c.9T>C (p.Ser3=)	LOC129996727, SLC17A5	Single nucleotide variant (5 prime UTR variant +1 more)	Salla disease	GLikely benign
Select item 2826651	NM_012434.5(SLC17A5):c.1111+10G>A	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2824400	NM_012434.5(SLC17A5):c.979-11A>G	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2823768	NM_012434.5(SLC17A5):c.663C>T (p.Cys221=)	SLC17A5	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 2815860	NM_012434.5(SLC17A5):c.771A>G (p.Arg257=)	SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease	GLikely benign
Select item 2815816	NM_012434.5(SLC17A5):c.4A>C (p.Arg2=)	LOC129996727, SLC17A5	Single nucleotide variant (5 prime UTR variant +1 more)	Salla disease	GLikely benign
Select item 2815795	NM_012434.5(SLC17A5):c.549T>C (p.His183=)	SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease	GLikely benign
Select item 2812713	NM_012434.5(SLC17A5):c.757C>T (p.Gln253Ter)	SLC17A5 (Q176* +5 more)	Single nucleotide variant (nonsense)	Salla disease	GPathogenic
Select item 2809076	NM_012434.5(SLC17A5):c.507A>T (p.Ala169=)	SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease	GLikely benign
Select item 2802786	NM_012434.5(SLC17A5):c.144T>C (p.Phe48=)	SLC17A5	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 2799184	NM_012434.5(SLC17A5):c.1112-9T>A	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2798969	NM_012434.5(SLC17A5):c.1008A>G (p.Leu336=)	SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease	GLikely benign
Select item 2794764	NM_012434.5(SLC17A5):c.138C>T (p.Ala46=)	SLC17A5	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 2794140	NM_012434.5(SLC17A5):c.360C>A (p.Ile120=)	SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease	GLikely benign
Select item 2791843	NM_012434.5(SLC17A5):c.701-19_701-18del	SLC17A5	Deletion (intron variant)	Salla disease	GLikely benign
Select item 2790935	NM_012434.5(SLC17A5):c.820-17A>G	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2790474	NM_012434.5(SLC17A5):c.979-10T>C	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2782046	NM_012434.5(SLC17A5):c.408A>G (p.Lys136=)	SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease	GLikely benign
Select item 2772082	NM_012434.5(SLC17A5):c.684T>G (p.Tyr228Ter)	SLC17A5 (Y151* +3 more)	Single nucleotide variant (nonsense +1 more)	Salla disease	GPathogenic
Select item 2770021	NM_012434.5(SLC17A5):c.24G>A (p.Leu8=)	LOC129996727, SLC17A5	Single nucleotide variant (5 prime UTR variant +1 more)	Salla disease	GLikely benign
Select item 2769439	NM_012434.5(SLC17A5):c.1350+13T>G	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2764343	NM_012434.5(SLC17A5):c.1254T>C (p.Ala418=)	SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease	GLikely benign
Select item 2759079	NM_012434.5(SLC17A5):c.526-10C>T	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2751842	NM_012434.5(SLC17A5):c.954G>A (p.Glu318=)	SLC17A5	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 2751329	NM_012434.5(SLC17A5):c.699dup (p.Gly234fs)	SLC17A5 (G157fs +3 more)	Duplication (frameshift variant +1 more)	Salla disease	GPathogenic
Select item 2747203	NM_012434.5(SLC17A5):c.614-7_614-5del	SLC17A5	Microsatellite (intron variant)	Salla disease	GLikely benign
Select item 2746377	NM_012434.5(SLC17A5):c.82C>A (p.Arg28=)	LOC129996727, SLC17A5 (H16Q)	Single nucleotide variant (missense variant +1 more)	Salla disease	GLikely benign
Select item 2745362	NM_012434.5(SLC17A5):c.1260-5T>A	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2744848	NM_012434.5(SLC17A5):c.1275C>T (p.Leu425=)	SLC17A5	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 2742643	NM_012434.5(SLC17A5):c.525+19_525+20del	SLC17A5	Deletion (intron variant)	Salla disease	GLikely benign
Select item 2742451	NM_012434.5(SLC17A5):c.867G>A (p.Leu289=)	SLC17A5	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 2740618	NM_012434.5(SLC17A5):c.994del (p.Ser332fs)	SLC17A5 (S226fs +6 more)	Deletion (frameshift variant)	Salla disease	GPathogenic
Select item 2739223	NM_012434.5(SLC17A5):c.291+13T>G	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign

<< First< Prev

Page of 7