C1833104[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 910353	NM_000162.5(GCK):c.1262A>G (p.Glu421Gly)	GCK (E421G +5 more)	Single nucleotide variant (missense variant)	Transient Neonatal Diabetes, Recessive +3 more	GUncertain significance
Select item 911565	NM_000162.5(GCK):c.1253+12C>T	GCK	Single nucleotide variant (intron variant)	Transient Neonatal Diabetes, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 129147	NM_000162.5(GCK):c.1253+8C>T	GCK	Single nucleotide variant (intron variant)	not provided +6 more	GBenign
Select item 908614	NM_000162.5(GCK):c.1120G>T (p.Val374Leu)	GCK (V373L +4 more)	Single nucleotide variant (missense variant +1 more)	Transient Neonatal Diabetes, Recessive +3 more	GUncertain significance
Select item 908615	NM_000162.5(GCK):c.1024A>C (p.Thr342Pro)	GCK (T341P +4 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GBenign FDA Recognized database
Select item 909471	NM_000162.5(GCK):c.792C>A (p.Gly264=)	GCK	Single nucleotide variant (synonymous variant)	Transient Neonatal Diabetes, Recessive +3 more	GUncertain significance
Select item 909472	NM_000162.5(GCK):c.680-14G>C	GCK	Single nucleotide variant (intron variant)	Transient Neonatal Diabetes, Recessive +5 more	GConflicting classifications of pathogenicity
Select item 910410	NM_000162.5(GCK):c.675C>T (p.Ile225=)	GCK	Single nucleotide variant (synonymous variant)	Transient Neonatal Diabetes, Recessive +3 more	GUncertain significance
Select item 36242	NM_000162.5(GCK):c.666C>T (p.Val222=)	GCK	Single nucleotide variant (synonymous variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 911631	NM_000162.5(GCK):c.649G>A (p.Asp217Asn)	GCK (D218N +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 255401	NM_000162.5(GCK):c.645C>T (p.Tyr215=)	GCK	Single nucleotide variant (synonymous variant)	Hyperinsulinism due to glucokinase deficiency +6 more	GBenign/Likely benign
Select item 36235	NM_000162.5(GCK):c.618G>A (p.Thr206=)	GCK	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +6 more	GBenign/Likely benign
Select item 908684	NM_000162.5(GCK):c.580-11C>T	GCK	Single nucleotide variant (intron variant)	Transient Neonatal Diabetes, Recessive +4 more	GUncertain significance/Uncertain risk allele
Select item 909539	NM_000162.5(GCK):c.483+3G>A	GCK	Single nucleotide variant (intron variant)	Transient Neonatal Diabetes, Recessive +5 more	GConflicting classifications of pathogenicity
Select item 909540	NM_000162.5(GCK):c.435C>G (p.Pro145=)	GCK	Single nucleotide variant (synonymous variant)	Transient Neonatal Diabetes, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 360299	NM_000162.5(GCK):c.393C>T (p.Ser131=)	GCK	Single nucleotide variant (synonymous variant)	Transient Neonatal Diabetes, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 360301	NM_000162.5(GCK):c.363+10G>A	GCK	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +6 more	GConflicting classifications of pathogenicity
Select item 360300	NM_000162.5(GCK):c.363+10G>C	GCK	Single nucleotide variant (intron variant)	Transient Neonatal Diabetes, Recessive +3 more	GUncertain significance
Select item 748518	NM_000162.5(GCK):c.363+9C>T	GCK	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +6 more	GConflicting classifications of pathogenicity
Select item 36213	NM_000162.5(GCK):c.339C>T (p.Asp113=)	GCK	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 2 +8 more	GBenign/Likely benign
Select item 211072	NM_000162.5(GCK):c.333C>T (p.Pro111=)	GCK	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +8 more	GBenign/Likely benign
Select item 447393	NM_000162.5(GCK):c.213C>T (p.Val71=)	GCK	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 2 +6 more	GConflicting classifications of pathogenicity
Select item 36208	NM_000162.5(GCK):c.209-8G>A	GCK	Single nucleotide variant (intron variant)	Transient Neonatal Diabetes, Recessive +5 more	GBenign/Likely benign
Select item 36206	NM_000162.5(GCK):c.208+11G>A	GCK	Single nucleotide variant (intron variant)	Transient Neonatal Diabetes, Recessive +6 more	GConflicting classifications of pathogenicity
Select item 360302	NM_000162.5(GCK):c.198A>G (p.Pro66=)	GCK	Single nucleotide variant (synonymous variant)	Transient Neonatal Diabetes, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 36222	NM_000162.5(GCK):c.46-12C>T	GCK	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 911766	NM_000162.5(GCK):c.10G>A (p.Asp4Asn)	GCK (D4N)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely benign FDA Recognized database
Select item 908803	NM_000162.5(GCK):c.-84C>G	GCK	Single nucleotide variant (5 prime UTR variant)	not provided +5 more	GBenign
Select item 908804	NM_000162.5(GCK):c.-102G>C	GCK	Single nucleotide variant (5 prime UTR variant)	Transient Neonatal Diabetes, Recessive +3 more	GUncertain significance
Select item 435292	NM_000162.5(GCK):c.-102G>A	GCK	Single nucleotide variant (5 prime UTR variant)	Maturity onset diabetes mellitus in young +5 more	GConflicting classifications of pathogenicity
Select item 909651	NM_000162.5(GCK):c.-137C>G	GCK	Single nucleotide variant (5 prime UTR variant)	Transient Neonatal Diabetes, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 909652	NM_000162.5(GCK):c.-215A>G	GCK	Single nucleotide variant (5 prime UTR variant)	Hyperinsulinism due to glucokinase deficiency +5 more	GBenign/Likely benign
Select item 910585	NM_000162.5(GCK):c.-217C>G	GCK	Single nucleotide variant (5 prime UTR variant)	not provided +5 more	GBenign/Likely benign
Select item 910586	NM_000162.5(GCK):c.-267G>T	GCK	Single nucleotide variant (5 prime UTR variant)	not provided +5 more	GBenign/Likely benign
Select item 911818	NM_000162.5(GCK):c.-279C>T	GCK	Single nucleotide variant (5 prime UTR variant)	Transient Neonatal Diabetes, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 908862	NM_000162.5(GCK):c.-396C>G	GCK	Single nucleotide variant (5 prime UTR variant)	Transient Neonatal Diabetes, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 908863	NM_000162.5(GCK):c.-449G>A	GCK	Single nucleotide variant (5 prime UTR variant)	Transient Neonatal Diabetes, Recessive +3 more	GUncertain significance
Select item 435293	NM_000162.5(GCK):c.-452G>A	GCK	Single nucleotide variant (5 prime UTR variant)	Permanent neonatal diabetes mellitus +5 more	GConflicting classifications of pathogenicity
Select item 435294	NM_000162.5(GCK):c.-453C>T	GCK	Single nucleotide variant (5 prime UTR variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 909717	NM_000162.5(GCK):c.-455A>G	GCK	Single nucleotide variant (5 prime UTR variant)	GCK-related condition +6 more	GConflicting classifications of pathogenicity
Select item 910637	NM_000162.5(GCK):c.-456G>A	GCK	Single nucleotide variant (5 prime UTR variant)	Transient Neonatal Diabetes, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 130055	NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro)	PTF1A (S263P)	Single nucleotide variant (missense variant)	Pancreatic beta cell agenesis with neonatal diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 299630	NM_178161.3(PTF1A):c.126_129del	PTF1A	Deletion (3 prime UTR variant)	Permanent neonatal diabetes mellitus	GUncertain significance
Select item 299631	NM_178161.3(PTF1A):c.*157GAT[1]	PTF1A	Microsatellite (3 prime UTR variant)	Permanent neonatal diabetes mellitus +1 more	GBenign/Likely benign
Select item 158672	NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=)	KCNJ11	Single nucleotide variant (synonymous variant)	Hyperinsulinemia +5 more	GConflicting classifications of pathogenicity
Select item 256362	NM_000525.4(KCNJ11):c.1095C>T (p.Arg365=)	KCNJ11	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 13 +6 more	GConflicting classifications of pathogenicity
Select item 158671	NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=)	KCNJ11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 553036	NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His)	KCNJ11 (R347H +1 more)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
Select item 158670	NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile)	KCNJ11 (V337I +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus, permanent neonatal 2 +5 more	GBenign/Likely benign
Select item 8683	NM_000525.4(KCNJ11):c.902G>A (p.Arg301His)	KCNJ11 (R301H +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus, transient neonatal, 3 +6 more	GConflicting classifications of pathogenicity
Select item 211227	NM_000525.4(KCNJ11):c.843C>T (p.Leu281=)	KCNJ11	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 792496	NM_000525.4(KCNJ11):c.819C>T (p.Ser273=)	KCNJ11	Single nucleotide variant (synonymous variant)	Hyperinsulinemic hypoglycemia, familial, 2 +3 more	GConflicting classifications of pathogenicity
Select item 158685	NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val)	KCNJ11 (L270V +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus, permanent neonatal 2 +7 more	GConflicting classifications of pathogenicity
Select item 303735	NM_000525.4(KCNJ11):c.804C>T (p.Tyr268=)	KCNJ11	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 13 +4 more	GConflicting classifications of pathogenicity
Select item 158684	NM_000525.4(KCNJ11):c.801C>G (p.Leu267=)	KCNJ11	Single nucleotide variant (synonymous variant)	Hyperinsulinemic hypoglycemia +7 more	GConflicting classifications of pathogenicity
Select item 555590	NM_000525.4(KCNJ11):c.718dup (p.Met240fs)	KCNJ11 (M153fs +1 more)	Duplication (frameshift variant)	Permanent neonatal diabetes mellitus +5 more	GConflicting classifications of pathogenicity
Select item 158680	NM_000525.4(KCNJ11):c.570C>T (p.Ala190=)	KCNJ11	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 13 +4 more	GBenign/Likely benign
Select item 303738	NM_000525.4(KCNJ11):c.354G>A (p.Ser118=)	KCNJ11	Single nucleotide variant (synonymous variant)	Transient Neonatal Diabetes, Dominant +5 more	GConflicting classifications of pathogenicity
Select item 211221	NM_000525.4(KCNJ11):c.108G>A (p.Val36=)	KCNJ11, ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +9 more	GConflicting classifications of pathogenicity
Select item 8678	NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu)	ABCC8, KCNJ11 (K23E)	Single nucleotide variant (missense variant +2 more)	Transient Neonatal Diabetes, Dominant +9 more	GBenign/Likely benign
Select item 303740	NM_000525.4(KCNJ11):c.-154G>T	ABCC8, KCNJ11	Single nucleotide variant (intron variant +1 more)	Maturity-onset diabetes of the young type 13 +6 more	GConflicting classifications of pathogenicity
Select item 303742	NM_000525.4(KCNJ11):c.-498T>C	ABCC8, KCNJ11	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism, Dominant/Recessive +7 more	GConflicting classifications of pathogenicity
Select item 303745	NM_000525.4(KCNJ11):c.-559G>C	ABCC8, KCNJ11	Single nucleotide variant (5 prime UTR variant +1 more)	Transient Neonatal Diabetes, Dominant +7 more	GConflicting classifications of pathogenicity
Select item 368948	NM_000352.5(ABCC8):c.*118A>G	ABCC8	Single nucleotide variant (3 prime UTR variant +1 more)	Transitory neonatal diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 303746	NM_000352.6(ABCC8):c.*93T>A	ABCC8	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GUncertain significance
Select item 157706	NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=)	ABCC8, KCNJ11	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +8 more	GConflicting classifications of pathogenicity
Select item 157705	NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile)	ABCC8, KCNJ11 (V1572I +3 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 3 +10 more	GConflicting classifications of pathogenicity
Select item 303747	NM_000352.6(ABCC8):c.4690A>G (p.Lys1564Glu)	ABCC8 (K1564E +3 more)	Single nucleotide variant (missense variant +1 more)	Permanent neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 303748	NM_000352.6(ABCC8):c.4647C>T (p.Ile1549=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +6 more	GConflicting classifications of pathogenicity
Select item 303749	NM_000352.6(ABCC8):c.4605C>T (p.Ile1535=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +5 more	GConflicting classifications of pathogenicity
Select item 877783	NM_000352.6(ABCC8):c.4545+9T>C	ABCC8	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 255932	NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 157703	NM_000352.6(ABCC8):c.4431C>T (p.Gly1477=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, transient neonatal, 2 +5 more	GConflicting classifications of pathogenicity
Select item 878824	NM_000352.6(ABCC8):c.4410C>T (p.Leu1470=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Permanent neonatal diabetes mellitus +5 more	GConflicting classifications of pathogenicity
Select item 878825	NM_000352.6(ABCC8):c.4366A>G (p.Ile1456Val)	ABCC8 (I1455V +3 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GUncertain significance
Select item 303750	NM_000352.6(ABCC8):c.4307+13A>C	ABCC8	Single nucleotide variant (intron variant)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GUncertain significance
Select item 303751	NM_000352.6(ABCC8):c.4239G>T (p.Pro1413=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 303752	NM_000352.6(ABCC8):c.4199-8C>T	ABCC8	Single nucleotide variant (intron variant)	Permanent neonatal diabetes mellitus +5 more	GConflicting classifications of pathogenicity
Select item 303753	NM_000352.6(ABCC8):c.4119+15C>T	ABCC8	Single nucleotide variant (intron variant)	Transitory neonatal diabetes mellitus +5 more	GConflicting classifications of pathogenicity
Select item 793518	NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	ABCC8-related condition +7 more	GConflicting classifications of pathogenicity
Select item 157699	NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser)	ABCC8 (A1369S +3 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 3 +9 more	GBenign

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