ClinVar for Gene (Select 2646) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373479	NM_001486.4(GCKR):c.1469G>A (p.Ser490Asn)	GCKR (S490N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369466	NM_001486.4(GCKR):c.1065_1066+7del	GCKR	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 3367580	NM_001486.4(GCKR):c.346C>T (p.Leu116Phe)	GCKR (L116F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367456	NM_001486.4(GCKR):c.539T>A (p.Val180Glu)	GCKR (V180E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359498	NM_001486.4(GCKR):c.275A>G (p.Glu92Gly)	GCKR (E92G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3352843	NM_001486.4(GCKR):c.870-4C>T	GCKR	Single nucleotide variant (intron variant)	GCKR-related disorder	GLikely benign
Select item 3343662	NM_001486.4(GCKR):c.285+1G>A	GCKR	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3342409	NM_001486.4(GCKR):c.90C>T (p.Ile30=)	GCKR	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3340170	NM_001486.4(GCKR):c.1553G>A (p.Arg518Gln)	GCKR (R518Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3281019	NM_001486.4(GCKR):c.833A>C (p.His278Pro)	GCKR (H278P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281018	NM_001486.4(GCKR):c.334C>T (p.Arg112Trp)	GCKR (R112W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281017	NM_001486.4(GCKR):c.524T>G (p.Val175Gly)	GCKR (V175G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281016	NM_001486.4(GCKR):c.1394T>C (p.Phe465Ser)	GCKR (F465S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281015	NM_001486.4(GCKR):c.295G>T (p.Gly99Trp)	GCKR (G99W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281012	NM_001486.4(GCKR):c.69del (p.Tyr24fs)	GCKR (Y24fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 3281011	NM_001486.4(GCKR):c.748G>A (p.Gly250Arg)	GCKR (G250R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3099036	NM_001486.4(GCKR):c.1864C>T (p.Pro622Ser)	GCKR (P622S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099035	NM_001486.4(GCKR):c.1823C>T (p.Pro608Leu)	GCKR (P608L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099034	NM_001486.4(GCKR):c.1801G>A (p.Val601Ile)	GCKR (V601I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099032	NM_001486.4(GCKR):c.1151A>G (p.Gln384Arg)	GCKR (Q384R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099031	NM_001486.4(GCKR):c.1001G>A (p.Gly334Asp)	GCKR (G334D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042849	NM_001486.4(GCKR):c.428+6C>T	GCKR	Single nucleotide variant (intron variant)	GCKR-related disorder	GLikely benign
Select item 3041755	NM_001486.4(GCKR):c.285+8C>A	GCKR	Single nucleotide variant (intron variant)	GCKR-related disorder	GLikely benign
Select item 3022157	NM_001486.4(GCKR):c.1066+14C>T	GCKR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011387	NM_001486.4(GCKR):c.1143+16G>A	GCKR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997008	NM_001486.4(GCKR):c.645-14T>A	GCKR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2986834	NM_001486.4(GCKR):c.1423-11G>T	GCKR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983242	NM_001486.4(GCKR):c.1423-19A>G	GCKR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982662	NM_001486.4(GCKR):c.354+16T>A	GCKR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981824	NM_001486.4(GCKR):c.937_940del (p.Ile313fs)	GCKR (I313fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2965636	NM_001486.4(GCKR):c.934A>G (p.Lys312Glu)	GCKR (K312E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955729	NM_001486.4(GCKR):c.1144-16TCT[2]	GCKR	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2955667	NM_001486.4(GCKR):c.1707+16C>T	GCKR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955642	NM_001486.4(GCKR):c.1849del (p.Leu617fs)	GCKR (L617fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2920168	NM_001486.4(GCKR):c.1508A>G (p.Asn503Ser)	GCKR (N503S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2917579	NM_001486.4(GCKR):c.912G>A (p.Gln304=)	GCKR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916664	NM_001486.4(GCKR):c.783A>G (p.Lys261=)	GCKR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915570	NM_001486.4(GCKR):c.1659G>A (p.Arg553=)	GCKR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908907	NM_001486.4(GCKR):c.1353G>C (p.Lys451Asn)	GCKR (K451N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891169	NM_001486.4(GCKR):c.9C>T (p.Gly3=)	GCKR	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2882240	NM_001486.4(GCKR):c.890G>A (p.Arg297Gln)	GCKR (R297Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872615	NM_001486.4(GCKR):c.1278G>A (p.Val426=)	GCKR	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2868864	NM_001486.4(GCKR):c.1066+11A>G	GCKR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858942	NM_001486.4(GCKR):c.1581T>C (p.Ser527=)	GCKR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2839496	NM_001486.4(GCKR):c.394C>G (p.Pro132Ala)	GCKR (P132A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2833037	NM_001486.4(GCKR):c.757G>T (p.Gly253Cys)	GCKR (G253C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780005	NM_001486.4(GCKR):c.645A>C (p.Arg215Ser)	GCKR (R215S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2762241	NM_001486.4(GCKR):c.50G>A (p.Gly17Asp)	GCKR (G17D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752605	NM_001486.4(GCKR):c.504C>T (p.Ala168=)	GCKR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747898	NM_001486.4(GCKR):c.1251G>C (p.Thr417=)	GCKR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2734138	NM_001486.4(GCKR):c.1552C>T (p.Arg518Trp)	GCKR (R518W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2728650	NM_001486.4(GCKR):c.1202C>T (p.Thr401Met)	GCKR (T401M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720165	NM_001486.4(GCKR):c.217-8C>T	GCKR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2713695	NM_001486.4(GCKR):c.217-4A>G	GCKR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2709471	NM_001486.4(GCKR):c.919T>G (p.Tyr307Asp)	GCKR (Y307D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2705600	NM_001486.4(GCKR):c.1328A>G (p.Gln443Arg)	GCKR (Q443R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663381	NM_001486.4(GCKR):c.629C>A (p.Pro210Gln)	GCKR (P210Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662766	NM_001486.4(GCKR):c.16C>T (p.Arg6Trp)	GCKR (R6W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650771	NM_001486.4(GCKR):c.1147C>A (p.Pro383Thr)	GCKR (P383T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2636739	NM_001486.4(GCKR):c.1339-2A>C	GCKR	Single nucleotide variant (splice acceptor variant)	GCKR-related disorder	GUncertain significance
Select item 2627656	NM_001486.4(GCKR):c.316G>A (p.Gly106Arg)	GCKR (G106R)	Single nucleotide variant (missense variant)	Fasting plasma glucose level quantitative trait locus 5	GUncertain significance
Select item 2612234	NM_001486.4(GCKR):c.559G>T (p.Val187Leu)	GCKR (V187L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2606419	NM_001486.4(GCKR):c.290C>T (p.Pro97Leu)	GCKR (P97L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593259	NM_001486.4(GCKR):c.1431G>T (p.Gln477His)	GCKR (Q477H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582774	NM_001486.4(GCKR):c.1709T>G (p.Val570Gly)	GCKR (V570G)	Single nucleotide variant (missense variant)	Fasting plasma glucose level quantitative trait locus 5	GUncertain significance
Select item 2579859	NM_001486.4(GCKR):c.1439T>A (p.Leu480Gln)	GCKR (L480Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2547744	NM_001486.4(GCKR):c.172G>A (p.Ala58Thr)	GCKR (A58T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2546770	NM_001486.4(GCKR):c.1863G>T (p.Glu621Asp)	GCKR (E621D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537896	NM_001486.4(GCKR):c.829G>T (p.Ala277Ser)	GCKR (A277S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537445	NM_001486.4(GCKR):c.832C>G (p.His278Asp)	GCKR (H278D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528255	NM_001486.4(GCKR):c.904G>A (p.Ala302Thr)	GCKR (A302T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526356	NM_001486.4(GCKR):c.1534A>G (p.Asn512Asp)	GCKR (N512D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522447	NM_001486.4(GCKR):c.1321G>A (p.Val441Met)	GCKR (V441M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519680	NM_001486.4(GCKR):c.353C>T (p.Ser118Leu)	GCKR (S118L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494382	NM_001486.4(GCKR):c.1481A>G (p.His494Arg)	GCKR (H494R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ABHD1, ADCY3 +65 more	Duplication	not provided	GUncertain significance
Select item 2426209	NC_000002.11:g.(?_27712462)_(27726506_?)dup	FNDC4, GCKR +1 more	Duplication	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	ADGRF3, AGBL5 +72 more	Duplication	not provided	GUncertain significance
Select item 2421875	NM_001486.4(GCKR):c.887T>G (p.Leu296Trp)	GCKR (L296W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419362	NM_001486.4(GCKR):c.1246C>G (p.Leu416Val)	GCKR (L416V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2410533	NM_001486.4(GCKR):c.997G>C (p.Val333Leu)	GCKR (V333L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408434	NM_001486.4(GCKR):c.1606G>A (p.Glu536Lys)	GCKR (E536K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2403216	NM_001486.4(GCKR):c.71A>G (p.Tyr24Cys)	GCKR (Y24C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384886	NM_001486.4(GCKR):c.988G>A (p.Val330Met)	GCKR (V330M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375059	NM_001486.4(GCKR):c.889C>T (p.Arg297Trp)	GCKR (R297W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365244	NM_001486.4(GCKR):c.1576T>G (p.Phe526Val)	GCKR (F526V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2364454	NM_001486.4(GCKR):c.656T>C (p.Ile219Thr)	GCKR (I219T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362197	NM_001486.4(GCKR):c.229G>A (p.Glu77Lys)	GCKR (E77K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340721	NM_001486.4(GCKR):c.592A>T (p.Thr198Ser)	GCKR (T198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338590	NM_001486.4(GCKR):c.874C>T (p.Leu292Phe)	GCKR (L292F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314723	NM_001486.4(GCKR):c.1283A>G (p.Glu428Gly)	GCKR (E428G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312416	NM_001486.4(GCKR):c.98A>G (p.Lys33Arg)	GCKR (K33R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307634	NM_001486.4(GCKR):c.320G>T (p.Gly107Val)	GCKR (G107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292690	NM_001486.4(GCKR):c.1741C>T (p.Arg581Trp)	GCKR (R581W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2227103	NM_001486.4(GCKR):c.17G>A (p.Arg6Gln)	GCKR (R6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207910	NM_001486.4(GCKR):c.1564A>G (p.Met522Val)	GCKR (M522V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204936	NM_001486.4(GCKR):c.1765G>A (p.Ala589Thr)	GCKR (A589T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203032	NM_001486.4(GCKR):c.695G>A (p.Arg232Gln)	GCKR (R232Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192482	NM_001486.4(GCKR):c.96G>T (p.Glu32Asp)	GCKR (E32D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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