ClinVar for Gene (Select 132158) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 3100430	NM_145262.4(GLYCTK):c.1543A>T (p.Thr515Ser)	GLYCTK (T515S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3100429	NM_145262.4(GLYCTK):c.1315C>A (p.Leu439Met)	GLYCTK (L439M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3100428	NM_145262.4(GLYCTK):c.1264C>T (p.Arg422Trp)	GLYCTK (R422W)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 3030611	NM_145262.4(GLYCTK):c.1491G>A (p.Gln497=)	GLYCTK	Single nucleotide variant (3 prime UTR variant +2 more)	GLYCTK-related disorder	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 2985242	NM_145262.4(GLYCTK):c.1044C>T (p.Tyr348=)	GLYCTK	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
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 2979162	NM_145262.4(GLYCTK):c.1315C>T (p.Leu439=)	GLYCTK	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
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 2770864	NM_145262.4(GLYCTK):c.1002T>C (p.Ser334=)	GLYCTK	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2739277	NM_145262.4(GLYCTK):c.1176G>A (p.Leu392=)	GLYCTK	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2653878	NM_145262.4(GLYCTK):c.1464C>T (p.Asp488=)	GLYCTK	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2653877	NM_145262.4(GLYCTK):c.1353C>T (p.Thr451=)	GLYCTK	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
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 2653875	NM_145262.4(GLYCTK):c.186C>T (p.Asp62=)	GLYCTK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2636899	NM_145262.4(GLYCTK):c.962G>A (p.Arg321Gln)	GLYCTK (R321Q)	Single nucleotide variant (3 prime UTR variant +2 more)	GLYCTK-related disorder	GUncertain significance
Select item 2636314	NM_145262.4(GLYCTK):c.1265G>A (p.Arg422Gln)	GLYCTK (R422Q)	Single nucleotide variant (3 prime UTR variant +2 more)	GLYCTK-related disorder	GUncertain significance
Select item 2629443	NM_145262.4(GLYCTK):c.1567C>T (p.Arg523Trp)	GLYCTK (R523W)	Single nucleotide variant (3 prime UTR variant +2 more)	GLYCTK-related disorder	GUncertain significance
Select item 2622352	NM_145262.4(GLYCTK):c.1433T>C (p.Leu478Pro)	GLYCTK (L478P)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
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 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 2559308	NM_145262.4(GLYCTK):c.1178A>G (p.Glu393Gly)	GLYCTK (E393G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
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 2524924	NM_145262.4(GLYCTK):c.1307G>T (p.Arg436Met)	GLYCTK (R436M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2492047	NM_145262.4(GLYCTK):c.1124A>G (p.His375Arg)	GLYCTK (H375R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2481186	NM_145262.4(GLYCTK):c.1469A>T (p.His490Leu)	GLYCTK (H490L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	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 2432175	NM_145262.4(GLYCTK):c.1132G>A (p.Ala378Thr)	GLYCTK (A378T)	Single nucleotide variant (3 prime UTR variant +2 more)	D-Glyceric aciduria +1 more	GUncertain significance
Select item 2432173	NM_145262.4(GLYCTK):c.967G>A (p.Ala323Thr)	GLYCTK (A323T)	Single nucleotide variant (3 prime UTR variant +2 more)	D-Glyceric aciduria	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 2427145	NC_000003.11:g.(?_52109903)_(53164416_?)del	ALAS1, BAP1 +28 more	Deletion	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2423375	NC_000003.11:g.(?_52018081)_(53845433_?)del	ACY1, ALAS1 +35 more	Deletion	not provided	GUncertain significance
Select item 2415647	NM_145262.4(GLYCTK):c.1250C>T (p.Ser417Leu)	GLYCTK (S417L)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
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 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 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 2339006	NM_145262.4(GLYCTK):c.1163T>C (p.Leu388Pro)	GLYCTK (L388P)	Single nucleotide variant (3 prime UTR variant +2 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 2306093	NM_145262.4(GLYCTK):c.1285C>T (p.Arg429Cys)	GLYCTK (R429C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	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 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 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 2224086	NM_145262.4(GLYCTK):c.1253G>T (p.Gly418Val)	GLYCTK (G418V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2200507	NM_145262.4(GLYCTK):c.378-3C>T	GLYCTK	Single nucleotide variant (intron variant)	not provided	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 2194459	NM_145262.4(GLYCTK):c.944C>T (p.Ala315Val)	GLYCTK (A315V)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2193131	NM_145262.4(GLYCTK):c.888T>C (p.His296=)	GLYCTK	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	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 2183617	NM_145262.4(GLYCTK):c.798T>C (p.Asp266=)	GLYCTK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2165213	NM_145262.4(GLYCTK):c.1277T>A (p.Leu426Gln)	GLYCTK (L426Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2153341	NM_145262.4(GLYCTK):c.874G>A (p.Asp292Asn)	GLYCTK (D292N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2152558	NM_145262.4(GLYCTK):c.977dup (p.Tyr328fs)	GLYCTK (Y328fs)	Duplication (3 prime UTR 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 2126013	NM_145262.4(GLYCTK):c.1539G>A (p.Met513Ile)	GLYCTK (M513I)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2112554	NM_145262.4(GLYCTK):c.1008C>T (p.Ala336=)	GLYCTK	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2102050	NM_145262.4(GLYCTK):c.1354G>A (p.Asp452Asn)	GLYCTK (D452N)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2097649	NM_145262.4(GLYCTK):c.898_899dup (p.Cys301fs)	GLYCTK (C301fs)	Microsatellite (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2084751	NM_145262.4(GLYCTK):c.1568G>A (p.Arg523Gln)	GLYCTK (R523Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
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 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 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 2071228	NM_145262.4(GLYCTK):c.1397C>T (p.Thr466Ile)	GLYCTK (T466I)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
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 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 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 2049953	NM_145262.4(GLYCTK):c.378-8C>G	GLYCTK	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2044711	NM_145262.4(GLYCTK):c.333C>T (p.Ser111=)	GLYCTK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2024296	NM_145262.4(GLYCTK):c.897C>T (p.His299=)	GLYCTK	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
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 2011662	NM_145262.4(GLYCTK):c.1377G>A (p.Glu459=)	GLYCTK	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2002040	NM_145262.4(GLYCTK):c.1518G>A (p.Gly506=)	GLYCTK	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1997090	NM_145262.4(GLYCTK):c.1386G>A (p.Gly462=)	GLYCTK	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1986324	NM_145262.4(GLYCTK):c.1323G>A (p.Pro441=)	GLYCTK	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1980557	NM_145262.4(GLYCTK):c.1059T>C (p.His353=)	GLYCTK	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
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 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 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 1964050	NM_145262.4(GLYCTK):c.1310G>C (p.Trp437Ser)	GLYCTK (W437S)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1942149	NM_145262.4(GLYCTK):c.1286G>T (p.Arg429Leu)	GLYCTK (R429L)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1939983	NM_145262.4(GLYCTK):c.530-8C>G	GLYCTK	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1933469	NM_145262.4(GLYCTK):c.1314G>A (p.Pro438=)	GLYCTK	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
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 1923361	NM_145262.4(GLYCTK):c.529+20C>T	GLYCTK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920206	NM_145262.4(GLYCTK):c.1241T>A (p.Leu414Gln)	GLYCTK (L414Q)	Single nucleotide variant (3 prime UTR variant +2 more)	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

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