2645[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	ABCA13, ADCY1 +380 more	Copy number loss	See cases	GPathogenic
Select item 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 148230	GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1	AEBP1, BLVRA +231 more	Copy number loss	See cases	GPathogenic
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	LOC126860033, LOC126860034 +426 more	Copy number loss	See cases	GPathogenic
Select item 360282	NM_000162.5(GCK):c.*847G>A	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Transient Neonatal Diabetes, Recessive +4 more	GBenign/Likely benign
Select item 360283	NM_000162.5(GCK):c.*844A>C	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 360284	NM_000162.5(GCK):c.*797C>T	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Transient Neonatal Diabetes, Recessive +5 more	GBenign
Select item 360285	NM_000162.5(GCK):c.*764C>T	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 360286	NM_000162.5(GCK):c.*759del	GCK	Deletion (3 prime UTR variant +1 more)	Hyperinsulinism, Dominant +4 more	GBenign
Select item 360287	NM_000162.5(GCK):c.*735C>A	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 2 +4 more	GBenign/Likely benign
Select item 360288	NM_000162.5(GCK):c.*723A>G	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 360289	NM_000162.5(GCK):c.*721C>T	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 360290	NM_000162.5(GCK):c.*678G>T	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Transient Neonatal Diabetes, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 360291	NM_000162.5(GCK):c.*548G>A	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 360292	NM_000162.5(GCK):c.*510C>T	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 2 +4 more	GBenign/Likely benign
Select item 360293	NM_000162.5(GCK):c.*477C>T	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Transient Neonatal Diabetes, Recessive +5 more	GBenign
Select item 360294	NM_000162.5(GCK):c.*356G>A	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 2 +4 more	GBenign/Likely benign
Select item 360295	NM_000162.5(GCK):c.*332G>A	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Permanent neonatal diabetes mellitus +3 more	GBenign
Select item 360296	NM_000162.5(GCK):c.*297T>G	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 2 +4 more	GBenign/Likely benign
Select item 360297	NM_000162.5(GCK):c.*270C>T	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 2571664	NM_000162.5(GCK):c.1358_*127delinsT (p.Ser453fs)	GCK (S116fs +4 more)	Indel (frameshift variant +1 more)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 360298	NM_000162.5(GCK):c.*92C>A	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Transient Neonatal Diabetes, Recessive +5 more	GBenign/Likely benign
Select item 255399	NM_000162.5(GCK):c.*11C>T	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Transient Neonatal Diabetes, Recessive +5 more	GConflicting classifications of pathogenicity
Select item 2571647	NM_000162.5(GCK):c.1379_*2del (p.Ala460fs)	GCK (A123fs +4 more)	Deletion (frameshift variant +1 more)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 2691823	NM_000162.5(GCK):c.1398A>T (p.Ter466Cys)	GCK	Single nucleotide variant (stop lost +1 more)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 2578350	NM_000162.5(GCK):c.1398A>G (p.Ter466Trp)	GCK	Single nucleotide variant (stop lost +1 more)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 2578351	NM_000162.5(GCK):c.1396T>C (p.Ter466Arg)	GCK	Single nucleotide variant (stop lost +1 more)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 2505488	NM_000162.5(GCK):c.1391_1392del (p.Gly464fs)	GCK (G127fs +4 more)	Deletion (frameshift variant +1 more)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 2571642	NM_000162.5(GCK):c.1391del (p.Gly464fs)	GCK (G127fs +4 more)	Deletion (frameshift variant +1 more)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1771481	NM_000162.5(GCK):c.1389G>A (p.Leu463=)	GCK	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 36202	NM_000162.5(GCK):c.1386G>T (p.Met462Ile)	GCK (M462I +4 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GLikely benign FDA Recognized database
Select item 2571662	NM_000162.5(GCK):c.1373_1384del (p.Lys458_Cys461del)	GCK	Deletion (inframe_deletion +1 more)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 2571655	NM_000162.5(GCK):c.1378del (p.Ala460fs)	GCK (A123fs +4 more)	Deletion (frameshift variant +1 more)	Maturity-onset diabetes of the young type 2	GPathogenic FDA Recognized database
Select item 2574159	NM_000162.5(GCK):c.1373_1376del (p.Lys458fs)	GCK (K121fs +4 more)	Deletion (frameshift variant +1 more)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 36201	NM_000162.5(GCK):c.1372_1373del (p.Lys458fs)	GCK (K136fs +4 more)	Deletion (frameshift variant +1 more)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 2571663	NM_000162.5(GCK):c.1368del (p.Cys457fs)	GCK (C120fs +4 more)	Deletion (frameshift variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1365679	NM_000162.5(GCK):c.1340_1368del (p.Arg447fs)	GCK (R446fs +5 more)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1452802	NM_000162.5(GCK):c.1162_1364del203 (p.Val389fs)	GCK (V390fs +5 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 16143	NM_000162.5(GCK):c.1367C>T (p.Ala456Val)	GCK (A456V +5 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2578360	NM_000162.5(GCK):c.1363dup (p.Val455fs)	GCK (V118fs +5 more)	Duplication (frameshift variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 585916	NM_000162.5(GCK):c.1364T>A (p.Val455Glu)	GCK (V455E +5 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2 +1 more	GConflicting classifications of pathogenicity
Select item 435297	NM_000162.5(GCK):c.1358CGG[3] (p.Ala454dup)	GCK	Microsatellite (inframe_insertion)	Hyperinsulinism due to glucokinase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 16140	NM_000162.5(GCK):c.1363G>A (p.Val455Met)	GCK (V455M +5 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2571646	NM_000162.5(GCK):c.1346_1362del (p.Ala449fs)	GCK (A112fs +5 more)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 995104	NM_000162.5(GCK):c.1284_1362del (p.Arg429fs)	GCK (R107fs +5 more)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 2	GLikely pathogenic FDA Recognized database
Select item 3068512	NM_000162.5(GCK):c.1361C>T (p.Ala454Val)	GCK (A117V +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 804843	NM_000162.5(GCK):c.1350_1361del (p.Leu451_Ala454del)	GCK	Deletion (inframe_deletion)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 393447	NM_000162.5(GCK):c.1361C>A (p.Ala454Glu)	GCK (A454E +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 804844	NM_000162.5(GCK):c.1360del (p.Ala454fs)	GCK (A117fs +5 more)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1938767	NM_000162.5(GCK):c.1359G>T (p.Ser453=)	GCK	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GLikely benign
Select item 3024416	NM_000162.5(GCK):c.1358C>A (p.Ser453Ter)	GCK (S116* +5 more)	Single nucleotide variant (nonsense)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 2734985	NM_000162.5(GCK):c.1358C>G (p.Ser453Trp)	GCK (S131W +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 36200	NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)	GCK (S453L +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +5 more	GPathogenic/Likely pathogenic
Select item 36190	NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln)	GCK	Indel (inframe_indel)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 2506148	NM_000162.5(GCK):c.1354G>C (p.Val452Leu)	GCK (V115L +5 more)	Single nucleotide variant (missense variant)	Familial hyperinsulinism	GLikely pathogenic
Select item 1708917	NM_000162.5(GCK):c.1351del (p.Leu451fs)	GCK (L114fs +5 more)	Deletion (frameshift variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 2734986	NM_000162.5(GCK):c.1349C>T (p.Ala450Val)	GCK (A450V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578361	NM_000162.5(GCK):c.1348del (p.Ala450fs)	GCK (A113fs +5 more)	Deletion (frameshift variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1770532	NM_000162.5(GCK):c.1348G>T (p.Ala450Ser)	GCK (A113S +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2578358	NM_000162.5(GCK):c.1346_1347del (p.Ala449fs)	GCK (A112fs +5 more)	Microsatellite (frameshift variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 2571650	NM_000162.5(GCK):c.1335_1345del (p.Arg447fs)	GCK (R110fs +5 more)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 36199	NM_000162.5(GCK):c.1345G>A (p.Ala449Thr)	GCK (A449T +5 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GLikely pathogenic
Select item 393448	NM_000162.5(GCK):c.1344del (p.Ala449fs)	GCK (A112fs +5 more)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 2571648	NM_000162.5(GCK):c.1343del (p.Gly448fs)	GCK (G111fs +5 more)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 2571649	NM_000162.5(GCK):c.1339dup (p.Arg447fs)	GCK (R110fs +5 more)	Duplication (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 804842	NM_000162.5(GCK):c.1340G>C (p.Arg447Pro)	GCK (R110P +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 429500	NM_000162.5(GCK):c.1340G>A (p.Arg447Gln)	GCK (R447Q +5 more)	Single nucleotide variant (missense variant)	Hyperinsulinism due to glucokinase deficiency +4 more	GPathogenic/Likely pathogenic
Select item 421604	NM_000162.5(GCK):c.1339del (p.Arg447fs)	GCK (R67fs +5 more)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 36198	NM_000162.5(GCK):c.1339C>G (p.Arg447Gly)	GCK (R447G +5 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +2 more	GPathogenic/Likely pathogenic
Select item 1505418	NM_000162.5(GCK):c.1335T>A (p.Ser445Arg)	GCK (S445R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574161	NM_000162.5(GCK):c.1331dup (p.Ser445fs)	GCK (S108fs +5 more)	Duplication (frameshift variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 36197	NM_000162.5(GCK):c.1332del (p.Ser445fs)	GCK (S108fs +5 more)	Deletion (frameshift variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 2664359	NM_000162.5(GCK):c.1331G>A (p.Gly444Asp)	GCK (G107D +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 2701170	NM_000162.5(GCK):c.1327G>A (p.Glu443Lys)	GCK (E121K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585915	NM_000162.5(GCK):c.1327G>T (p.Glu443Ter)	GCK (E443* +5 more)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 2571651	NM_000162.5(GCK):c.1319_1323dup (p.Glu442fs)	GCK (E105fs +5 more)	Duplication (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1338522	NM_000162.5(GCK):c.1324G>T (p.Glu442Ter)	GCK (E105* +5 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 521398	NM_000162.5(GCK):c.1324G>A (p.Glu442Lys)	GCK (E442K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2581124	NM_000162.5(GCK):c.1322C>A (p.Ser441Ter)	GCK (S104* +5 more)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 2033366	NM_000162.5(GCK):c.1315_1322del (p.Ile439fs)	GCK (I59fs +5 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1320655	NM_000162.5(GCK):c.1322C>G (p.Ser441Trp)	GCK (S104W +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 435298	NM_000162.5(GCK):c.1322C>T (p.Ser441Leu)	GCK (S441L +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 2571644	NM_000162.5(GCK):c.1307_1319del (p.Ile436fs)	GCK (I114fs +5 more)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 2	GLikely pathogenic FDA Recognized database
Select item 1338523	NM_000162.5(GCK):c.1319A>G (p.Glu440Gly)	GCK (E103G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2571652	NM_000162.5(GCK):c.1318G>T (p.Glu440Ter)	GCK (E103* +5 more)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 515200	NM_000162.5(GCK):c.1317C>T (p.Ile439=)	GCK	Single nucleotide variant (synonymous variant)	Monogenic diabetes	GLikely benign FDA Recognized database
Select item 2571643	NM_000162.5(GCK):c.1312_1314del (p.Phe438del)	GCK (F101del +5 more)	Deletion (inframe_deletion)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 2571665	NM_000162.5(GCK):c.1313T>A (p.Phe438Tyr)	GCK (F101Y +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1679548	NM_000162.5(GCK):c.1312T>G (p.Phe438Val)	GCK (F101V +5 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GLikely pathogenic
Select item 916047	NM_000162.5(GCK):c.1254-20_1312del	GCK	Deletion (splice acceptor variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 2698504	NM_000162.5(GCK):c.1297_1311del (p.Ser433_Thr437del)	GCK	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2571653	NM_000162.5(GCK):c.1309_1310del (p.Thr437fs)	GCK (T100fs +5 more)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 2	GPathogenic FDA Recognized database
Select item 1769650	NM_000162.5(GCK):c.1310C>G (p.Thr437Ser)	GCK (T100S +5 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance/Uncertain risk allele
Select item 585914	NM_000162.5(GCK):c.1310C>T (p.Thr437Ile)	GCK (T437I +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 2664363	NM_000162.5(GCK):c.1298_1309del (p.Ser433_Ile436del)	GCK	Deletion (inframe_deletion)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 997872	NM_000162.5(GCK):c.1309A>C (p.Thr437Pro)	GCK (T100P +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance/Uncertain risk allele

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