"GeneDx"[submitter] AND "GCKR"[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1194950	NM_001486.4(GCKR):c.-9C>T	GCKR	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1313047	NM_001486.4(GCKR):c.14A>G (p.Lys5Arg)	GCKR (K5R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303199	NM_001486.4(GCKR):c.17_22dup (p.Arg6_Phe7dup)	GCKR	Duplication (inframe_insertion)	Fasting plasma glucose level quantitative trait locus 5 +1 more	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 3342409	NM_001486.4(GCKR):c.90C>T (p.Ile30=)	GCKR	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 265524	NM_001486.4(GCKR):c.151C>T (p.Arg51Ter)	GCKR (R51*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 1334327	NM_001486.4(GCKR):c.216+9_216+10del	GCKR	Deletion (intron variant)	not provided	GBenign
Select item 1218676	NM_001486.4(GCKR):c.217-67C>G	GCKR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273428	NM_001486.4(GCKR):c.217-44C>T	GCKR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 225371	NM_001486.4(GCKR):c.230A>G (p.Glu77Gly)	GCKR (E77G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1220207	NM_001486.4(GCKR):c.244A>G (p.Thr82Ala)	GCKR (T82A)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1220089	NM_001486.4(GCKR):c.248T>C (p.Met83Thr)	GCKR (M83T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3343662	NM_001486.4(GCKR):c.285+1G>A	GCKR	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1712858	NM_001486.4(GCKR):c.335G>A (p.Arg112Gln)	GCKR (R112Q)	Single nucleotide variant (missense variant)	not specified +1 more	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 1611176	NM_001486.4(GCKR):c.354G>A (p.Ser118=)	GCKR	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1257525	NM_001486.4(GCKR):c.354+132C>G	GCKR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275596	NM_001486.4(GCKR):c.429-38T>C	GCKR	Single nucleotide variant (intron variant)	not provided	GBenign
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 2068624	NM_001486.4(GCKR):c.548_549del (p.Ser183fs)	GCKR (S183fs)	Microsatellite (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 1231951	NM_001486.4(GCKR):c.549+99G>A	GCKR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201608	NM_001486.4(GCKR):c.549+203_549+204del	GCKR	Microsatellite (intron variant)	not provided	GLikely benign
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 1201566	NM_001486.4(GCKR):c.644+148A>G	GCKR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1303200	NM_001486.4(GCKR):c.679C>T (p.Arg227Ter)	GCKR (R227*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1207420	NM_001486.4(GCKR):c.701A>C (p.Gln234Pro)	GCKR (Q234P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1249652	NM_001486.4(GCKR):c.869+74C>G	GCKR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202528	NM_001486.4(GCKR):c.869+109G>A	GCKR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195853	NM_001486.4(GCKR):c.870-155C>T	GCKR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251312	NM_001486.4(GCKR):c.968+34G>A	GCKR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1311136	NM_001486.4(GCKR):c.1061G>T (p.Gly354Val)	GCKR (G354V)	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 1188700	NM_001486.4(GCKR):c.1067-28C>T	GCKR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 932562	NM_001486.4(GCKR):c.1135dup (p.Thr379fs)	GCKR (T379fs)	Duplication (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 1206505	NM_001486.4(GCKR):c.1144-153C>T	GCKR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 720149	NM_001486.4(GCKR):c.1215T>C (p.Thr405=)	GCKR	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1276643	NM_001486.4(GCKR):c.1241-27G>A	GCKR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1549832	NM_001486.4(GCKR):c.1337_1338delinsCC (p.Leu446Pro)	GCKR (L446P)	Indel (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 8751	NM_001486.4(GCKR):c.1337T>C (p.Leu446Pro)	GCKR (L446P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1325964	NM_001486.4(GCKR):c.1338+21_1338+24del	GCKR	Deletion (intron variant)	not provided	GLikely benign
Select item 1283523	NM_001486.4(GCKR):c.1422+94T>C	GCKR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284013	NM_001486.4(GCKR):c.1422+258C>T	GCKR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182063	NM_001486.4(GCKR):c.1423-22C>G	GCKR	Single nucleotide variant (intron variant)	not provided	GBenign
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 1700283	NM_001486.4(GCKR):c.1453G>T (p.Val485Leu)	GCKR (V485L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2920168	NM_001486.4(GCKR):c.1508A>G (p.Asn503Ser)	GCKR (N503S)	Single nucleotide variant (missense 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 2068625	NM_001486.4(GCKR):c.1555G>A (p.Ala519Thr)	GCKR (A519T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 421036	NM_001486.4(GCKR):c.1585C>T (p.Gln529Ter)	GCKR (Q529*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1189882	NM_001486.4(GCKR):c.1618C>T (p.Arg540Ter)	GCKR (R540*)	Single nucleotide variant (nonsense)	Fasting plasma glucose level quantitative trait locus 5 +1 more	GUncertain significance
Select item 1169313	NM_001486.4(GCKR):c.1619G>A (p.Arg540Gln)	GCKR (R540Q)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1281892	NM_001486.4(GCKR):c.1708-190A>G	GCKR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210972	NM_001486.4(GCKR):c.1708-128T>C	GCKR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194285	NM_001486.4(GCKR):c.1768C>T (p.His590Tyr)	GCKR (H590Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1259356	NM_001486.4(GCKR):c.*104G>A	GCKR	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1198659	NC_000002.12:g.27523686T>C	GCKR	Single nucleotide variant (genic downstream transcript variant)	not provided	GLikely benign
Select item 3359498	NM_001486.4(GCKR):c.275A>G (p.Glu92Gly)	GCKR (E92G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 58