GLYCTK[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 732033	NM_145262.4(GLYCTK):c.21C>T (p.Val7=)	GLYCTK	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2072805	NM_145262.4(GLYCTK):c.28C>G (p.Arg10Gly)	GLYCTK (R10G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3281686	NM_145262.4(GLYCTK):c.29G>T (p.Arg10Leu)	GLYCTK (R10L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1878259	NM_145262.4(GLYCTK):c.37C>T (p.Arg13Ter)	GLYCTK (R13*)	Single nucleotide variant (nonsense +1 more)	D-Glyceric aciduria +1 more	GConflicting classifications of pathogenicity
Select item 1406594	NM_145262.4(GLYCTK):c.38G>A (p.Arg13Gln)	GLYCTK (R13Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3281688	NM_145262.4(GLYCTK):c.43C>T (p.Pro15Ser)	GLYCTK (P15S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100434	NM_145262.4(GLYCTK):c.50A>G (p.His17Arg)	GLYCTK (H17R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1965631	NM_145262.4(GLYCTK):c.52C>T (p.Pro18Ser)	GLYCTK (P18S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1646697	NM_145262.4(GLYCTK):c.57C>T (p.Leu19=)	GLYCTK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 522994	NM_145262.4(GLYCTK):c.60_62del (p.Trp21del)	GLYCTK (W21del)	Deletion (inframe_deletion +1 more)	D-Glyceric aciduria	GUncertain significance
Select item 1386071	NM_145262.4(GLYCTK):c.64C>T (p.Arg22Trp)	GLYCTK (R22W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1590817	NM_145262.4(GLYCTK):c.71C>T (p.Ser24Leu)	GLYCTK (S24L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 727443	NM_145262.4(GLYCTK):c.79C>T (p.Arg27Cys)	GLYCTK (R27C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1597795	NM_145262.4(GLYCTK):c.80G>A (p.Arg27His)	GLYCTK (R27H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 930336	NM_145262.4(GLYCTK):c.112G>A (p.Ala38Thr)	GLYCTK (A38T)	Single nucleotide variant (missense variant +1 more)	D-Glyceric aciduria	GUncertain significance
Select item 1968295	NM_145262.4(GLYCTK):c.130A>G (p.Ser44Gly)	GLYCTK (S44G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1934880	NM_145262.4(GLYCTK):c.152C>T (p.Pro51Leu)	GLYCTK (P51L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 734926	NM_145262.4(GLYCTK):c.153G>A (p.Pro51=)	GLYCTK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2247791	NM_145262.4(GLYCTK):c.169C>T (p.Arg57Trp)	GLYCTK (R57W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322651	NM_145262.4(GLYCTK):c.172G>C (p.Ala58Pro)	GLYCTK (A58P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1567549	NM_145262.4(GLYCTK):c.177A>G (p.Leu59=)	GLYCTK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653875	NM_145262.4(GLYCTK):c.186C>T (p.Asp62=)	GLYCTK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2528473	NM_145262.4(GLYCTK):c.194G>A (p.Gly65Asp)	GLYCTK (G65D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399107	NM_145262.4(GLYCTK):c.211C>T (p.Arg71Trp)	GLYCTK (R71W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1924189	NM_145262.4(GLYCTK):c.217C>T (p.Arg73Trp)	GLYCTK (R73W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3100431	NM_145262.4(GLYCTK):c.226C>G (p.Gln76Glu)	GLYCTK (Q76E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 741203	NM_145262.4(GLYCTK):c.229C>T (p.Leu77=)	GLYCTK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1397340	NM_145262.4(GLYCTK):c.230T>A (p.Leu77Gln)	GLYCTK (L77Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1190244	NM_145262.4(GLYCTK):c.239dup (p.Asn80fs)	GLYCTK (N80fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3100432	NM_145262.4(GLYCTK):c.242T>C (p.Leu81Pro)	GLYCTK (L81P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 746012	NM_145262.4(GLYCTK):c.255C>A (p.Gly85=)	GLYCTK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2410826	NM_145262.4(GLYCTK):c.274G>T (p.Gly92Cys)	GLYCTK (G92C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 973445	NM_145262.4(GLYCTK):c.304G>A (p.Gly102Ser)	GLYCTK (G102S)	Single nucleotide variant (missense variant +1 more)	D-Glyceric aciduria	GUncertain significance
Select item 2955417	NM_145262.4(GLYCTK):c.324C>T (p.Gly108=)	GLYCTK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2068810	NM_145262.4(GLYCTK):c.325G>A (p.Val109Met)	GLYCTK (V109M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2044711	NM_145262.4(GLYCTK):c.333C>T (p.Ser111=)	GLYCTK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2414034	NM_145262.4(GLYCTK):c.349C>T (p.Arg117Cys)	GLYCTK (R117C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1399020	NM_145262.4(GLYCTK):c.353C>T (p.Ala118Val)	GLYCTK (A118V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2071476	NM_145262.4(GLYCTK):c.365G>A (p.Arg122His)	GLYCTK (R122H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 740015	NM_145262.4(GLYCTK):c.369C>G (p.Ala123=)	GLYCTK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991685	NM_145262.4(GLYCTK):c.377+20T>C	GLYCTK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2049953	NM_145262.4(GLYCTK):c.378-8C>G	GLYCTK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2200507	NM_145262.4(GLYCTK):c.378-3C>T	GLYCTK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 788485	NM_145262.4(GLYCTK):c.384G>C (p.Met128Ile)	GLYCTK (M128I)	Single nucleotide variant (missense variant +1 more)	D-Glyceric aciduria +1 more	GConflicting classifications of pathogenicity
Select item 1561868	NM_145262.4(GLYCTK):c.403C>T (p.Arg135Cys)	GLYCTK (R135C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3100433	NM_145262.4(GLYCTK):c.404G>A (p.Arg135His)	GLYCTK (R135H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3236393	NM_145262.4(GLYCTK):c.425C>T (p.Ala142Val)	GLYCTK (A142V)	Single nucleotide variant (missense variant +1 more)	D-Glyceric aciduria	GUncertain significance
Select item 1166753	NM_145262.4(GLYCTK):c.441G>A (p.Pro147=)	GLYCTK	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1134365	NM_145262.4(GLYCTK):c.441G>C (p.Pro147=)	GLYCTK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2083706	NM_145262.4(GLYCTK):c.445C>T (p.Arg149Cys)	GLYCTK (R149C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2462259	NM_145262.4(GLYCTK):c.446G>A (p.Arg149His)	GLYCTK (R149H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 728486	NM_145262.4(GLYCTK):c.453G>A (p.Ala151=)	GLYCTK	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 522974	NM_145262.4(GLYCTK):c.457C>T (p.Arg153Trp)	GLYCTK (R153W)	Single nucleotide variant (missense variant +1 more)	D-Glyceric aciduria +1 more	GConflicting classifications of pathogenicity
Select item 1907382	NM_145262.4(GLYCTK):c.501T>A (p.Ala167=)	GLYCTK	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1168988	NM_145262.4(GLYCTK):c.508C>G (p.Leu170Val)	GLYCTK (L170V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2637131	NM_145262.4(GLYCTK):c.515T>C (p.Leu172Pro)	GLYCTK (L172P)	Single nucleotide variant (missense variant +1 more)	GLYCTK-related disorder	GUncertain significance
Select item 2428352	NM_145262.4(GLYCTK):c.516C>T (p.Leu172=)	GLYCTK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1582748	NM_145262.4(GLYCTK):c.529+10C>T	GLYCTK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1551562	NM_145262.4(GLYCTK):c.529+13A>G	GLYCTK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923361	NM_145262.4(GLYCTK):c.529+20C>T	GLYCTK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1603986	NM_145262.4(GLYCTK):c.530-14C>A	GLYCTK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1939983	NM_145262.4(GLYCTK):c.530-8C>G	GLYCTK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1166754	NM_145262.4(GLYCTK):c.530-4A>G	GLYCTK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2980901	NM_145262.4(GLYCTK):c.540A>C (p.Ser180=)	GLYCTK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1031661	NM_145262.4(GLYCTK):c.550C>T (p.Pro184Ser)	GLYCTK (P184S)	Single nucleotide variant (missense variant +2 more)	D-Glyceric aciduria	GUncertain significance
Select item 1471840	NM_145262.4(GLYCTK):c.576G>A (p.Leu192=)	GLYCTK	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1508117	NM_145262.4(GLYCTK):c.578A>G (p.Glu193Gly)	GLYCTK (E193G)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2026362	NM_145262.4(GLYCTK):c.642C>T (p.Thr214=)	GLYCTK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2593727	NM_145262.4(GLYCTK):c.646C>T (p.Arg216Trp)	GLYCTK (R216W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1919349	NM_145262.4(GLYCTK):c.673G>T (p.Gly225Trp)	GLYCTK (G225W)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1471986	NM_145262.4(GLYCTK):c.678del (p.Leu227fs)	GLYCTK (L227fs)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 1353500	NM_145262.4(GLYCTK):c.689C>T (p.Ala230Val)	GLYCTK (A230V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2013629	NM_145262.4(GLYCTK):c.691G>A (p.Ala231Thr)	GLYCTK (A231T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 445621	NM_145262.4(GLYCTK):c.705+3A>G	GLYCTK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1919355	NM_145262.4(GLYCTK):c.715C>T (p.Leu239Phe)	GLYCTK (L239F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2653876	NM_145262.4(GLYCTK):c.725_731del (p.Ser242fs)	GLYCTK (R184fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1966815	NM_145262.4(GLYCTK):c.729T>C (p.Asp243=)	GLYCTK (C185R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3281687	NM_145262.4(GLYCTK):c.731T>C (p.Val244Ala)	GLYCTK (V244A)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3100435	NM_145262.4(GLYCTK):c.747G>A (p.Val249=)	GLYCTK (G191R)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2192695	NM_145262.4(GLYCTK):c.757G>A (p.Ala253Thr)	GLYCTK (C194Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2298043	NM_145262.4(GLYCTK):c.761G>C (p.Ser254Thr)	GLYCTK (Q195H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 753721	NM_145262.4(GLYCTK):c.762T>C (p.Ser254=)	GLYCTK (W196R)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GLikely benign
Select item 1378569	NM_145262.4(GLYCTK):c.767C>T (p.Pro256Leu)	GLYCTK (P256L)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1448143	NM_145262.4(GLYCTK):c.788A>G (p.Asn263Ser)	GLYCTK (N263S)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1031195	NM_145262.4(GLYCTK):c.791T>A (p.Val264Glu)	GLYCTK (C205* +1 more)	Single nucleotide variant (nonsense +2 more)	D-Glyceric aciduria +1 more	GUncertain significance
Select item 2183617	NM_145262.4(GLYCTK):c.798T>C (p.Asp266=)	GLYCTK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2238114	NM_145262.4(GLYCTK):c.802C>G (p.Leu268Val)	GLYCTK (P209R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1412203	NM_145262.4(GLYCTK):c.806A>G (p.His269Arg)	GLYCTK (H269R)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2144354	NM_145262.4(GLYCTK):c.817C>T (p.Arg273Cys)	GLYCTK (R273C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3100437	NM_145262.4(GLYCTK):c.820T>C (p.Tyr274His)	GLYCTK (Y274H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2060443	NM_145262.4(GLYCTK):c.821A>G (p.Tyr274Cys)	GLYCTK (Y274C)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GUncertain significance
Select item 2196061	NM_145262.4(GLYCTK):c.822C>T (p.Tyr274=)	GLYCTK (R216W)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1401070	NM_145262.4(GLYCTK):c.823G>A (p.Gly275Ser)	GLYCTK (G275S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2559670	NM_145262.4(GLYCTK):c.830G>T (p.Arg277Leu)	GLYCTK (R277L)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2054478	NM_145262.4(GLYCTK):c.830G>A (p.Arg277His)	GLYCTK (R277H)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 783382	NM_145262.4(GLYCTK):c.843A>G (p.Pro281=)	GLYCTK (T223A)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1311781	NM_145262.4(GLYCTK):c.844C>T (p.Arg282Cys)	GLYCTK (R282C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2045591	NM_145262.4(GLYCTK):c.848C>T (p.Ser283Phe)	GLYCTK (S283F)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GUncertain significance
Select item 743859	NM_145262.4(GLYCTK):c.870G>A (p.Arg290=)	GLYCTK (G232S)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1494619	NM_145262.4(GLYCTK):c.872C>T (p.Ala291Val)	GLYCTK (A291V)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance

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