Related gene-specific medical variations for Gene (Select 26503) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245985	NC_000006.11:g.(?_74345119)_(74347569_?)del	SLC17A5	Deletion	Salla disease	GLikely pathogenic
Select item 3245984	NC_000006.11:g.(?_74304800)_(74331705_?)del	SLC17A5	Deletion	Salla disease	GPathogenic
Select item 3245983	NC_000006.11:g.(?_74354110)_(74363609_?)del	SLC17A5	Deletion	Salla disease	GPathogenic
Select item 3245982	NC_000006.11:g.(?_74310054)_(74310184_?)del	SLC17A5	Deletion	Salla disease	GPathogenic
Select item 3240473	NM_012434.5:c.579_580insAlu	SLC17A5	Insertion	Salla disease	GLikely pathogenic
Select item 3240472	NM_012434.5(SLC17A5):c.95-1G>T	SLC17A5	Single nucleotide variant (intron variant +1 more)	Salla disease	GLikely pathogenic
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 3022415	NM_012434.5(SLC17A5):c.94+1G>A	LOC129996727, SLC17A5	Single nucleotide variant (splice donor variant)	Salla disease	GLikely pathogenic
Select item 3016457	NM_012434.5(SLC17A5):c.94+9C>A	LOC129996727, 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 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 2891846	NM_012434.5(SLC17A5):c.1del (p.Met1*)	LOC129996727, SLC17A5	Deletion (5 prime UTR variant +2 more)	Salla disease	GPathogenic
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 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 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 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 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 2718352	NM_012434.5(SLC17A5):c.94+13G>A	LOC129996727, SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2704156	NM_012434.5(SLC17A5):c.94+12G>T	LOC129996727, SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2696243	NM_012434.5(SLC17A5):c.39C>G (p.Gly13=)	LOC129996727, SLC17A5 (A2G)	Single nucleotide variant (missense variant +1 more)	Salla disease	GLikely benign
Select item 2678782	NM_012434.5(SLC17A5):c.286C>T (p.Gln96Ter)	SLC17A5 (Q103* +1 more)	Single nucleotide variant (nonsense +1 more)	Salla disease	GLikely pathogenic
Select item 2678781	NM_012434.5(SLC17A5):c.701-1G>A	SLC17A5	Single nucleotide variant (splice acceptor variant)	Salla disease	GLikely pathogenic
Select item 2678779	NM_012434.5(SLC17A5):c.294_310del	LOC132089454, SLC17A5	Deletion (genic upstream transcript variant)	Salla disease	GPathogenic/Likely pathogenic
Select item 2678778	NM_012434.5(SLC17A5):c.254del (p.Glu85fs)	SLC17A5 (E85fs +1 more)	Deletion (frameshift variant +1 more)	Salla disease	GLikely pathogenic
Select item 2678777	NM_012434.5(SLC17A5):c.609dup (p.Ala204fs)	SLC17A5 (A127fs +2 more)	Duplication (frameshift variant)	Salla disease	GLikely pathogenic
Select item 2678776	NM_012434.5(SLC17A5):c.979-1G>T	SLC17A5	Single nucleotide variant (splice acceptor variant)	Salla disease	GPathogenic
Select item 2678775	NM_012434.5(SLC17A5):c.790G>T (p.Glu264Ter)	SLC17A5 (E158* +5 more)	Single nucleotide variant (nonsense)	Salla disease	GLikely pathogenic
Select item 2678774	NM_012434.5(SLC17A5):c.308G>A (p.Trp103Ter)	SLC17A5, LOC132089454 (W103* +2 more)	Single nucleotide variant (nonsense)	Salla disease	GLikely pathogenic
Select item 2678773	NM_012434.5(SLC17A5):c.95-1G>A	SLC17A5	Single nucleotide variant (intron variant +1 more)	Salla disease	GLikely pathogenic
Select item 2678772	NM_012434.5(SLC17A5):c.846_849del (p.Trp282fs)	SLC17A5 (W176fs +5 more)	Deletion (frameshift variant +1 more)	Salla disease	GLikely pathogenic
Select item 2678771	NM_012434.5(SLC17A5):c.1260-2A>C	SLC17A5	Single nucleotide variant (splice acceptor variant +1 more)	Salla disease	GPathogenic
Select item 2678770	NM_012434.5(SLC17A5):c.735dup (p.Trp246fs)	SLC17A5 (W140fs +5 more)	Duplication (frameshift variant)	Salla disease	GLikely pathogenic
Select item 2678769	NM_012434.5(SLC17A5):c.289dup (p.Thr97fs)	SLC17A5 (T104fs +1 more)	Duplication (frameshift variant +1 more)	Salla disease	GLikely pathogenic
Select item 2678768	NM_012434.5(SLC17A5):c.221T>G (p.Leu74Ter)	SLC17A5 (L74* +1 more)	Single nucleotide variant (nonsense +1 more)	Salla disease	GLikely pathogenic
Select item 2625537	NM_012434.5(SLC17A5):c.44A>G (p.Glu15Gly)	LOC129996727, SLC17A5 (R4G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504044	NM_012434.5(SLC17A5):c.316G>A (p.Glu106Lys)	LOC132089454, SLC17A5 (E106K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2435976	NM_012434.5(SLC17A5):c.968A>G (p.Asn323Ser)	SLC17A5 (N217S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2433387	NM_012434.5(SLC17A5):c.322C>T (p.Gln108Ter)	LOC132089454, SLC17A5 (Q108* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2171393	NM_012434.5(SLC17A5):c.94+13del	LOC129996727, SLC17A5	Deletion (intron variant)	Salla disease	GBenign
Select item 2149347	NM_012434.5(SLC17A5):c.55C>T (p.Arg19Cys)	LOC129996727, SLC17A5 (R19C)	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GUncertain significance
Select item 2144669	NM_012434.5(SLC17A5):c.94+15C>A	LOC129996727, SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2139991	NM_012434.5(SLC17A5):c.292-13C>G	LOC132089454, SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2065161	NM_012434.5(SLC17A5):c.60G>A (p.Thr20=)	LOC129996727, SLC17A5 (R9H)	Single nucleotide variant (missense variant +1 more)	Salla disease	GLikely benign
Select item 2062903	NM_012434.5(SLC17A5):c.9T>A (p.Ser3=)	LOC129996727, SLC17A5	Single nucleotide variant (5 prime UTR variant +1 more)	Salla disease	GLikely benign
Select item 2055581	NM_012434.5(SLC17A5):c.94+7G>C	LOC129996727, SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2005981	NM_012434.5(SLC17A5):c.329G>A (p.Trp110Ter)	LOC132089454, SLC17A5 (W33* +2 more)	Single nucleotide variant (nonsense)	Salla disease	GPathogenic
Select item 1993868	NM_012434.5(SLC17A5):c.10C>G (p.Pro4Ala)	LOC129996727, SLC17A5 (P4A)	Single nucleotide variant (5 prime UTR variant +1 more)	Salla disease	GUncertain significance
Select item 1929154	NM_012434.5(SLC17A5):c.22C>G (p.Leu8Val)	LOC129996727, SLC17A5 (L8V)	Single nucleotide variant (missense variant +1 more)	Salla disease	GUncertain significance
Select item 1927222	NM_012434.5(SLC17A5):c.35A>G (p.Asp12Gly)	LOC129996727, SLC17A5 (D12G +1 more)	Single nucleotide variant (missense variant +1 more)	Salla disease	GUncertain significance
Select item 1923520	NM_012434.5(SLC17A5):c.1A>C (p.Met1Leu)	LOC129996727, SLC17A5 (M1L)	Single nucleotide variant (5 prime UTR variant +2 more)	Salla disease	GPathogenic
Select item 1912903	NM_012434.5(SLC17A5):c.75C>A (p.Gly25=)	LOC129996727, SLC17A5 (A14E)	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 1725546	NM_012434.5(SLC17A5):c.321_322insGTCTCTTATA (p.Gln108fs)	LOC132089454, SLC17A5 (Q108fs +2 more)	Insertion (frameshift variant)	Salla disease +1 more	GLikely pathogenic
Select item 1713681	NM_012434.5(SLC17A5):c.36T>A (p.Asp12Glu)	LOC129996727, SLC17A5 (D12E +1 more)	Single nucleotide variant (missense variant +1 more)	Salla disease	GUncertain significance
Select item 1672683	NM_012434.5(SLC17A5):c.39C>A (p.Gly13=)	LOC129996727, SLC17A5 (A2E)	Single nucleotide variant (missense variant +1 more)	Salla disease	GLikely benign
Select item 1651208	NM_012434.5(SLC17A5):c.342C>G (p.Ser114=)	LOC132089454, SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease	GLikely benign
Select item 1639306	NM_012434.5(SLC17A5):c.294T>C (p.Gly98=)	LOC132089454, SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease	GLikely benign
Select item 1616678	NM_012434.5(SLC17A5):c.292-4G>C	LOC132089454, SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 1576191	NM_012434.5(SLC17A5):c.12G>C (p.Pro4=)	LOC129996727, SLC17A5	Single nucleotide variant (5 prime UTR variant +1 more)	Salla disease	GLikely benign
Select item 1562870	NM_012434.5(SLC17A5):c.94+20A>G	LOC129996727, SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 1415223	NM_012434.5(SLC17A5):c.50C>T (p.Thr17Met)	LOC129996727, SLC17A5 (R6W +1 more)	Single nucleotide variant (missense variant)	Salla disease	GUncertain significance
Select item 1389776	NM_012434.5(SLC17A5):c.310G>A (p.Asp104Asn)	LOC132089454, SLC17A5 (D27N +2 more)	Single nucleotide variant (missense variant)	Salla disease	GUncertain significance
Select item 1355900	NM_012434.5(SLC17A5):c.1A>T (p.Met1Leu)	LOC129996727, SLC17A5 (M1L)	Single nucleotide variant (missense variant +2 more)	Salla disease	GPathogenic
Select item 1285238	NG_008272.1:g.(37212_43567)_(48616_58573)del	SLC17A5	Deletion	Sialic acid storage disease, severe infantile type	GPathogenic
Select item 1264060	NM_012434.5(SLC17A5):c.614-299G>A	LOC132089452, SLC17A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229580	NM_012434.5(SLC17A5):c.95-162G>C	LOC132089458, SLC17A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182698	NM_012434.5(SLC17A5):c.979-242A>C	LOC132089451, SLC17A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1158928	NM_012434.5(SLC17A5):c.292-4G>A	LOC132089454, SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 1143611	NM_012434.5(SLC17A5):c.21C>T (p.Asp7=)	LOC129996727, SLC17A5	Single nucleotide variant (5 prime UTR variant +1 more)	Salla disease +1 more	GLikely benign
Select item 1139202	NM_012434.5(SLC17A5):c.51G>T (p.Thr17=)	LOC129996727, SLC17A5 (R6L)	Single nucleotide variant (missense variant +1 more)	Salla disease	GLikely benign
Select item 1121173	NM_012434.5(SLC17A5):c.60G>T (p.Thr20=)	LOC129996727, SLC17A5 (R9L)	Single nucleotide variant (missense variant +1 more)	Salla disease	GLikely benign
Select item 1097236	NM_012434.5(SLC17A5):c.63T>G (p.Pro21=)	LOC129996727, SLC17A5 (L10R)	Single nucleotide variant (missense variant +1 more)	Salla disease	GLikely benign
Select item 1085161	NM_012434.5(SLC17A5):c.36T>C (p.Asp12=)	LOC129996727, SLC17A5 (M1T)	Single nucleotide variant (missense variant +2 more)	Salla disease	GLikely benign
Select item 1082189	NM_012434.5(SLC17A5):c.336C>T (p.Leu112=)	LOC132089454, SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease	GLikely benign
Select item 1077357	NM_012434.5(SLC17A5):c.306A>G (p.Gln102=)	LOC132089454, SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease	GLikely benign
Select item 1067475	NM_012434.5(SLC17A5):c.1A>G (p.Met1Val)	LOC129996727, SLC17A5 (M1V)	Single nucleotide variant (5 prime UTR variant +2 more)	Salla disease	GLikely pathogenic
Select item 992174	NM_012434.5(SLC17A5):c.-2T>C	LOC129996727, SLC17A5	Single nucleotide variant (5 prime UTR variant)	Salla disease	GUncertain significance
Select item 992173	NM_012434.5(SLC17A5):c.56G>A (p.Arg19His)	LOC129996727, SLC17A5 (A8T +1 more)	Single nucleotide variant (missense variant)	Salla disease	GUncertain significance
Select item 992172	NM_012434.5(SLC17A5):c.93C>T (p.Ala31=)	LOC129996727, SLC17A5 (P20L)	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GUncertain significance
Select item 992170	NM_012434.5(SLC17A5):c.572C>A (p.Pro191His)	SLC17A5 (P114H +2 more)	Single nucleotide variant (missense variant)	Salla disease	GUncertain significance
Select item 953496	NM_012434.5(SLC17A5):c.338G>A (p.Gly113Asp)	LOC132089454, SLC17A5 (G120D +2 more)	Single nucleotide variant (missense variant)	Salla disease	GUncertain significance
Select item 946386	NM_012434.5(SLC17A5):c.94+2T>A	LOC129996727, SLC17A5	Single nucleotide variant (splice donor variant)	Salla disease	GLikely pathogenic
Select item 932589	NM_012434.5(SLC17A5):c.72G>C (p.Pro24=)	SLC17A5, LOC129996727 (R13P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 908720	NM_012434.5(SLC17A5):c.-73C>A	LOC129996727, SLC17A5	Single nucleotide variant (5 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 789839	NM_012434.5(SLC17A5):c.33C>T (p.Asn11=)	LOC129996727, SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease +2 more	GBenign/Likely benign
Select item 781754	NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr)	LOC129996727, SLC17A5 (A29T)	Single nucleotide variant (missense variant)	Salla disease +3 more	GConflicting classifications of pathogenicity
Select item 754655	NM_012434.5(SLC17A5):c.94+7G>A	LOC129996727, SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 753021	NM_012434.5(SLC17A5):c.297G>A (p.Lys99=)	LOC132089454, SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease	GLikely benign
Select item 746760	NM_012434.5(SLC17A5):c.6G>A (p.Arg2=)	LOC129996727, SLC17A5	Single nucleotide variant (synonymous variant)	SLC17A5-related disorder +3 more	GLikely benign
Select item 672093	NM_012434.5(SLC17A5):c.979-233G>A	LOC132089451, SLC17A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 558969	NM_012434.5(SLC17A5):c.292-22T>C	LOC132089454, SLC17A5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 557474	NM_012434.5(SLC17A5):c.292-1G>C	LOC132089454, SLC17A5	Single nucleotide variant (splice acceptor variant)	Salla disease	GLikely pathogenic
Select item 394990	GRCh37/hg19 6q13(chr6:74341681-74351732)x3	SLC17A5	Copy number gain	See cases	GLikely benign
Select item 370491	NM_012434.5(SLC17A5):c.292-2A>C	LOC132089454, SLC17A5	Single nucleotide variant (splice acceptor variant)	Salla disease	GLikely pathogenic
Select item 370442	NM_012434.5(SLC17A5):c.349dup (p.Tyr117fs)	LOC132089454, SLC17A5 (Y117fs)	Duplication (frameshift variant)	Salla disease	GPathogenic/Likely pathogenic
Select item 357927	NM_012434.5(SLC17A5):c.-86A>T	SLC17A5, LOC129996727	Single nucleotide variant (5 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 357926	NM_012434.5(SLC17A5):c.-56C>G	LOC129996727, SLC17A5	Single nucleotide variant (5 prime UTR variant)	Salla disease +1 more	GUncertain significance
Select item 167694	NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter)	LOC129996727, SLC17A5 (E15*)	Single nucleotide variant (nonsense)	Salla disease +1 more	GPathogenic/Likely pathogenic
Select item 56560	NM_012434.5(SLC17A5):c.983G>A (p.Gly328Glu)	SLC17A5 (G328E)	Single nucleotide variant (missense variant)	Salla disease	GLikely pathogenic
Select item 56559	NM_012434.5(SLC17A5):c.95-1G>C	SLC17A5	Single nucleotide variant (intron variant +1 more)	Salla disease	GLikely pathogenic

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