ClinVar for MedGen (Select 203367) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2444861	NM_012434.5(SLC17A5):c.527G>T (p.Gly176Val)	SLC17A5 (G176V +2 more)	Single nucleotide variant (missense variant)	Sialic acid storage disease, severe infantile type	GLikely pathogenic
Select item 1726488	NM_012434.5(SLC17A5):c.857T>A (p.Leu286Ter)	SLC17A5 (L180* +5 more)	Single nucleotide variant (nonsense +1 more)	Sialic acid storage disease, severe infantile type +1 more	GLikely pathogenic
Select item 1726212	NM_012434.5(SLC17A5):c.1035_1036insCTTATACACA (p.Gly346fs)	SLC17A5 (G240fs +6 more)	Insertion (frameshift variant)	Sialic acid storage disease, severe infantile type +1 more	GLikely pathogenic
Select item 1725837	NM_012434.5(SLC17A5):c.436_437insACTCCTAAAT (p.Thr146delinsAsnSerTer)	SLC17A5	Insertion (nonsense)	Sialic acid storage disease, severe infantile type +1 more	GLikely pathogenic
Select item 1725816	NM_012434.5(SLC17A5):c.915_916del (p.Phe305fs)	SLC17A5 (F199fs +5 more)	Deletion (frameshift variant +1 more)	Sialic acid storage disease, severe infantile type +1 more	GLikely pathogenic
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 1725350	NM_012434.5(SLC17A5):c.390del (p.Ser131fs)	SLC17A5 (S131fs +2 more)	Deletion (frameshift variant)	Sialic acid storage disease, severe infantile type +1 more	GLikely pathogenic
Select item 1725321	NM_012434.5(SLC17A5):c.693C>A (p.Tyr231Ter)	SLC17A5 (Y154* +3 more)	Single nucleotide variant (nonsense +1 more)	Sialic acid storage disease, severe infantile type +1 more	GLikely pathogenic
Select item 1725306	NM_012434.5(SLC17A5):c.992_995delinsAT (p.Ser331fs)	SLC17A5 (S225fs +6 more)	Indel (frameshift variant)	Sialic acid storage disease, severe infantile type +1 more	GLikely pathogenic
Select item 1725299	NM_012434.5(SLC17A5):c.485_486insCAAGAGAGCAAAATAC (p.Pro163fs)	SLC17A5 (P163fs +2 more)	Insertion (frameshift variant)	Sialic acid storage disease, severe infantile type +1 more	GLikely pathogenic
Select item 1725173	NM_012434.5(SLC17A5):c.1096delinsTGTGTATAAGAGACAGT (p.Ile366delinsCysValTer)	SLC17A5	Indel (nonsense)	Sialic acid storage disease, severe infantile type +1 more	GLikely pathogenic
Select item 1724916	NM_012434.5(SLC17A5):c.1048del (p.Asp350fs)	SLC17A5 (D244fs +6 more)	Deletion (frameshift variant)	Sialic acid storage disease, severe infantile type +1 more	GLikely pathogenic
Select item 1724131	NM_012434.5(SLC17A5):c.458_460delinsATCTAAGTGT (p.Thr153fs)	SLC17A5 (T153fs +2 more)	Indel (frameshift variant)	Sialic acid storage disease, severe infantile type +1 more	GLikely pathogenic
Select item 1724125	NM_012434.5(SLC17A5):c.903C>G (p.Tyr301Ter)	SLC17A5 (Y195* +5 more)	Single nucleotide variant (nonsense +1 more)	Sialic acid storage disease, severe infantile type +1 more	GLikely pathogenic
Select item 1699316	NM_012434.5(SLC17A5):c.1111G>A (p.Gly371Arg)	SLC17A5 (G265R +6 more)	Single nucleotide variant (missense variant)	Sialic acid storage disease, severe infantile type	GLikely pathogenic
Select item 1691289	NM_012434.5(SLC17A5):c.574C>T (p.Pro192Ser)	SLC17A5 (P115S +2 more)	Single nucleotide variant (missense variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 1477146	NM_012434.5(SLC17A5):c.1148G>C (p.Gly383Ala)	SLC17A5 (G306A +6 more)	Single nucleotide variant (missense variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 1285238	NG_008272.1:g.(37212_43567)_(48616_58573)del	SLC17A5	Deletion	Sialic acid storage disease, severe infantile type	GPathogenic
Select item 1252085	NM_012434.5(SLC17A5):c.1111+1G>A	SLC17A5	Single nucleotide variant (splice donor variant)	Salla disease	GPathogenic/Likely pathogenic
Select item 1252083	NM_012434.5(SLC17A5):c.744_747del (p.Ser249fs)	SLC17A5 (S143fs +5 more)	Microsatellite (frameshift variant)	Salla disease	GPathogenic
Select item 1209792	NM_012434.5(SLC17A5):c.719G>T (p.Trp240Leu)	SLC17A5 (W134L +5 more)	Single nucleotide variant (missense variant)	Salla disease +1 more	GUncertain significance
Select item 1185275	NM_012434.5(SLC17A5):c.979-33G>A	SLC17A5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1185211	NM_012434.5(SLC17A5):c.1112-36G>A	SLC17A5	Single nucleotide variant (intron variant)	Sialic acid storage disease, severe infantile type +2 more	GBenign
Select item 1185153	NM_012434.5(SLC17A5):c.525+36G>C	SLC17A5	Single nucleotide variant (intron variant)	Sialic acid storage disease, severe infantile type +2 more	GBenign
Select item 1185152	NM_012434.5(SLC17A5):c.526-106G>T	SLC17A5	Single nucleotide variant (intron variant)	Sialic acid storage disease, severe infantile type +2 more	GBenign
Select item 973243	NM_012434.5(SLC17A5):c.809T>A (p.Leu270Ter)	SLC17A5 (L164* +5 more)	Single nucleotide variant (nonsense)	Salla disease +1 more	GPathogenic
Select item 960642	NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter)	SLC17A5 (Q130* +3 more)	Single nucleotide variant (nonsense +1 more)	Salla disease +1 more	GPathogenic/Likely pathogenic
Select item 911669	NM_012434.5(SLC17A5):c.573C>G (p.Pro191=)	SLC17A5	Single nucleotide variant (synonymous variant)	Sialic acid storage disease, severe infantile type +1 more	GConflicting classifications of pathogenicity
Select item 911610	NM_012434.5(SLC17A5):c.*174G>C	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 911549	NM_012434.5(SLC17A5):c.*764G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GBenign
Select item 911492	NM_012434.5(SLC17A5):c.*1692G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 910338	NM_012434.5(SLC17A5):c.*909C>T	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Salla disease +1 more	GBenign
Select item 909516	NM_012434.5(SLC17A5):c.1045G>A (p.Ala349Thr)	SLC17A5 (A349T)	Single nucleotide variant (missense variant)	Salla disease +1 more	GUncertain significance
Select item 909515	NM_012434.5(SLC17A5):c.1176C>T (p.Ala392=)	SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease +1 more	GConflicting classifications of pathogenicity
Select item 909451	NM_012434.5(SLC17A5):c.*488G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 909450	NM_012434.5(SLC17A5):c.*501G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 909449	NM_012434.5(SLC17A5):c.*550G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Salla disease +1 more	GUncertain significance
Select item 909375	NM_012434.5(SLC17A5):c.*1056A>G	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 909374	NM_012434.5(SLC17A5):c.*1155T>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 909373	NM_012434.5(SLC17A5):c.*1206G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
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 908594	NM_012434.5(SLC17A5):c.*587C>T	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 908593	NM_012434.5(SLC17A5):c.*588G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GLikely benign
Select item 870533	NM_012434.5(SLC17A5):c.786A>C (p.Glu262Asp)	SLC17A5 (E262D)	Single nucleotide variant (missense variant)	Salla disease	GLikely pathogenic
Select item 809967	NM_012434.5(SLC17A5):c.1295T>C (p.Phe432Ser)	SLC17A5 (F432S)	Single nucleotide variant (missense variant)	Sialic acid storage disease, severe infantile type +3 more	GUncertain significance
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 771862	NM_012434.5(SLC17A5):c.820-3C>T	SLC17A5	Single nucleotide variant (intron variant)	Salla disease +2 more	GLikely benign
Select item 727312	NM_012434.5(SLC17A5):c.1112-8A>C	SLC17A5	Single nucleotide variant (intron variant)	SLC17A5-related condition +3 more	GLikely benign
Select item 720734	NM_012434.5(SLC17A5):c.957C>A (p.Ile319=)	SLC17A5	Single nucleotide variant (synonymous variant)	SLC17A5-related condition +4 more	GConflicting classifications of pathogenicity
Select item 672109	NM_012434.5(SLC17A5):c.979-87A>G	SLC17A5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 672088	NM_012434.5(SLC17A5):c.978+88C>T	SLC17A5	Single nucleotide variant (intron variant)	Sialic acid storage disease, severe infantile type +2 more	GBenign
Select item 672087	NM_012434.5(SLC17A5):c.978+70G>A	SLC17A5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 672086	NM_012434.5(SLC17A5):c.820-51C>G	SLC17A5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 672081	NM_012434.5(SLC17A5):c.819+79T>G	SLC17A5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 672080	NM_012434.5(SLC17A5):c.819+52G>A	SLC17A5	Single nucleotide variant (intron variant)	not provided +2 more	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 558968	NM_012434.5(SLC17A5):c.553A>G (p.Met185Val)	SLC17A5 (M185V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 558967	NM_012434.5(SLC17A5):c.1177G>A (p.Val393Ile)	SLC17A5 (V393I)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 558174	NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)	SLC17A5 (V453fs)	Insertion (frameshift variant)	Salla disease +1 more	GConflicting classifications of pathogenicity
Select item 440272	NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter)	SLC17A5 (Y306*)	Single nucleotide variant (nonsense)	Sialic acid storage disease, severe infantile type +3 more	GPathogenic
Select item 431079	NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)	SLC17A5 (R39H)	Single nucleotide variant (missense variant)	Salla disease +2 more	GPathogenic/Likely pathogenic
Select item 370393	NM_012434.5(SLC17A5):c.1259+1G>A	SLC17A5	Single nucleotide variant (splice donor variant)	not provided +1 more	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 357925	NM_012434.5(SLC17A5):c.606A>G (p.Ser202=)	SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease +3 more	GBenign
Select item 357924	NM_012434.5(SLC17A5):c.1111+7G>A	SLC17A5	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 357923	NM_012434.5(SLC17A5):c.1192A>G (p.Ile398Val)	SLC17A5 (I398V)	Single nucleotide variant (missense variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 357922	NM_012434.5(SLC17A5):c.1272C>A (p.Ile424=)	SLC17A5	Single nucleotide variant (synonymous variant)	Sialic acid storage disease, severe infantile type +1 more	GConflicting classifications of pathogenicity
Select item 357921	NM_012434.5(SLC17A5):c.1358T>G (p.Val453Gly)	SLC17A5 (V453G)	Single nucleotide variant (missense variant)	Salla disease +1 more	GUncertain significance
Select item 357920	NM_012434.5(SLC17A5):c.1432G>A (p.Ala478Thr)	SLC17A5 (A478T)	Single nucleotide variant (missense variant)	SLC17A5-related condition +2 more	GConflicting classifications of pathogenicity
Select item 357919	NM_012434.5(SLC17A5):c.*193A>G	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +2 more	GBenign
Select item 357918	NM_012434.5(SLC17A5):c.*373G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Salla disease +1 more	GUncertain significance
Select item 357917	NM_012434.5(SLC17A5):c.*385C>G	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +2 more	GBenign
Select item 357916	NM_012434.5(SLC17A5):c.*478C>T	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Salla disease +1 more	GUncertain significance
Select item 357915	NM_012434.5(SLC17A5):c.*560G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 357914	NM_012434.5(SLC17A5):c.*595C>G	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 357913	NM_012434.5(SLC17A5):c.*666C>T	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Salla disease +1 more	GUncertain significance
Select item 357912	NM_012434.5(SLC17A5):c.*762C>T	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Salla disease +1 more	GUncertain significance
Select item 357911	NM_012434.5(SLC17A5):c.*799T>C	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Salla disease +1 more	GLikely benign
Select item 357910	NM_012434.5(SLC17A5):c.*817G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Salla disease +1 more	GUncertain significance
Select item 357909	NM_012434.5(SLC17A5):c.*837C>T	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 357908	NM_012434.5(SLC17A5):c.*901C>T	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 357907	NM_012434.5(SLC17A5):c.*971G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GBenign
Select item 357906	NM_012434.5(SLC17A5):c.*1332T>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 357904	NM_012434.5(SLC17A5):c.*1450G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 357903	NM_012434.5(SLC17A5):c.*1492C>G	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GConflicting classifications of pathogenicity
Select item 357902	NM_012434.5(SLC17A5):c.*1533A>G	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 357901	NM_012434.5(SLC17A5):c.*1565C>T	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 357900	NM_012434.5(SLC17A5):c.*1566G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 357898	NM_012434.5(SLC17A5):c.*1630G>T	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GConflicting classifications of pathogenicity
Select item 357897	NM_012434.5(SLC17A5):c.*1696T>C	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 235209	NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile)	SLC17A5 (V442I)	Single nucleotide variant (missense variant)	SLC17A5-related condition +4 more	GConflicting classifications of pathogenicity
Select item 203395	NM_012434.5(SLC17A5):c.409del (p.Met137fs)	SLC17A5 (M137fs)	Deletion (frameshift variant)	Salla disease	GPathogenic/Likely pathogenic
Select item 198552	NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile)	SLC17A5 (V296I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 191213	NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe)	SLC17A5 (S300F)	Single nucleotide variant (missense variant)	Sialic acid storage disease, severe infantile type +4 more	GConflicting classifications of pathogenicity
Select item 167693	NM_012434.5(SLC17A5):c.533del (p.Thr178fs)	SLC17A5 (T178fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 130316	NM_012434.5(SLC17A5):c.246G>A (p.Ala82=)	SLC17A5	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 100735	NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro)	SLC17A5 (L167P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 56558	NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)	SLC17A5	Deletion (inframe_deletion)	Salla disease +1 more	GPathogenic

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