C1835887[trait identifier] AND "Clinical Genomics, Uppaluri K&H Person - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	not specified +10 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 157704	NM_000352.6(ABCC8):c.4609-40A>G	ABCC8	Single nucleotide variant (intron variant)	Transitory neonatal diabetes mellitus +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 446778	NM_000352.6(ABCC8):c.4591A>C (p.Thr1531Pro)	ABCC8 (T1531P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 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)	Diabetes mellitus, transient neonatal, 2 +7 more	GConflicting classifications of pathogenicity
Select item 35619	NM_000352.6(ABCC8):c.4412-14C>T	ABCC8	Single nucleotide variant (intron variant)	ABCC8-related disorder +10 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 989953	NM_000352.6(ABCC8):c.4285G>A (p.Val1429Ile)	ABCC8 (V1428I +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +6 more	GUncertain significance
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 968215	NM_000352.6(ABCC8):c.4138_4140delinsCA (p.Thr1380fs)	ABCC8 (T1380fs +3 more)	Indel (frameshift variant +1 more)	Type 2 diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 35612	NM_000352.6(ABCC8):c.4120-19C>T	ABCC8	Single nucleotide variant (intron variant)	Diabetes mellitus, permanent neonatal 3 +6 more	GConflicting classifications of pathogenicity
Select item 157700	NM_000352.6(ABCC8):c.4120-27T>C	ABCC8	Single nucleotide variant (intron variant)	Transitory neonatal diabetes mellitus +6 more	GConflicting classifications of pathogenicity
Select item 1177452	NM_000352.6(ABCC8):c.4119+93G>T	ABCC8	Single nucleotide variant (intron variant)	not provided +6 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)	not specified +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)	not provided +9 more	GBenign
Select item 1684260	NM_000352.6(ABCC8):c.4090G>T (p.Val1364Phe)	ABCC8 (V1363F +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +6 more	GConflicting classifications of pathogenicity
Select item 763411	NM_000352.6(ABCC8):c.4077G>A (p.Pro1359=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 265022	NM_000352.6(ABCC8):c.4028A>T (p.Lys1343Met)	ABCC8 (K1343M +3 more)	Single nucleotide variant (missense variant +1 more)	Leucine-induced hypoglycemia +7 more	GUncertain significance
Select item 303755	NM_000352.6(ABCC8):c.3989-10C>T	ABCC8	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +6 more	GConflicting classifications of pathogenicity
Select item 989959	NM_000352.6(ABCC8):c.3988+19G>C	ABCC8	Single nucleotide variant (non-coding transcript variant +1 more)	Transitory neonatal diabetes mellitus +7 more	GConflicting classifications of pathogenicity
Select item 303756	NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, transient neonatal, 2 +7 more	GConflicting classifications of pathogenicity
Select item 303757	NM_000352.6(ABCC8):c.3951C>G (p.Leu1317=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 393428	NM_000352.6(ABCC8):c.3875A>G (p.Asn1292Ser)	ABCC8 (N1292S +3 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +7 more	GUncertain significance
Select item 446771	NM_000352.6(ABCC8):c.3867+7G>A	ABCC8	Single nucleotide variant (intron variant)	ABCC8-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 303758	NM_000352.6(ABCC8):c.3858C>T (p.Tyr1286=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +7 more	GConflicting classifications of pathogenicity
Select item 157698	NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +9 more	GBenign
Select item 552226	NM_000352.6(ABCC8):c.3753+1G>A	ABCC8	Single nucleotide variant (splice donor variant)	Maturity onset diabetes mellitus in young +3 more	GConflicting classifications of pathogenicity
Select item 303759	NM_000352.6(ABCC8):c.3705T>C (p.Ile1235=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +4 more	GUncertain significance
Select item 989964	NM_000352.6(ABCC8):c.3649A>G (p.Arg1217Gly)	ABCC8 (R1216G +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +6 more	GUncertain significance
Select item 290581	NM_000352.6(ABCC8):c.3613G>A (p.Glu1205Lys)	ABCC8 (E1205K +3 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, transient neonatal, 2 +7 more	GUncertain significance
Select item 157697	NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 303760	NM_000352.6(ABCC8):c.3558-6C>G	ABCC8	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +4 more	GUncertain significance
Select item 303761	NM_000352.6(ABCC8):c.3558-8C>T	ABCC8	Single nucleotide variant (intron variant)	Permanent neonatal diabetes mellitus +5 more	GConflicting classifications of pathogenicity
Select item 303762	NM_000352.6(ABCC8):c.3552G>A (p.Ala1184=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +6 more	GConflicting classifications of pathogenicity
Select item 879518	NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +5 more	GConflicting classifications of pathogenicity
Select item 303763	NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, transient neonatal, 2 +7 more	GConflicting classifications of pathogenicity
Select item 303764	NM_000352.6(ABCC8):c.3399+13G>A	ABCC8	Single nucleotide variant (intron variant)	Permanent neonatal diabetes mellitus +6 more	GConflicting classifications of pathogenicity
Select item 35608	NM_000352.6(ABCC8):c.3329+6C>T	ABCC8	Single nucleotide variant (intron variant)	Transitory neonatal diabetes mellitus +5 more	GBenign/Likely benign
Select item 388502	NM_000352.6(ABCC8):c.3293G>A (p.Arg1098His)	ABCC8 (R1098H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GUncertain significance
Select item 792785	NM_000352.6(ABCC8):c.3243G>A (p.Thr1081=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +5 more	GConflicting classifications of pathogenicity
Select item 303765	NM_000352.6(ABCC8):c.3224T>C (p.Ile1075Thr)	ABCC8 (I1075T +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 303766	NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn)	ABCC8 (D1038N +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +5 more	GConflicting classifications of pathogenicity
Select item 702557	NM_000352.6(ABCC8):c.2958G>A (p.Ser986=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Permanent neonatal diabetes mellitus +7 more	GConflicting classifications of pathogenicity
Select item 990395	NM_000352.6(ABCC8):c.2938G>A (p.Glu980Lys)	ABCC8 (E1002K +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +7 more	GUncertain significance
Select item 303769	NM_000352.6(ABCC8):c.2937C>T (p.Ser979=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, transient neonatal, 2 +6 more	GConflicting classifications of pathogenicity
Select item 990396	NM_000352.6(ABCC8):c.2869C>G (p.Arg957Gly)	ABCC8 (R956G +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +6 more	GUncertain significance
Select item 157694	NM_000352.6(ABCC8):c.2820+17A>G	ABCC8	Single nucleotide variant (intron variant)	Transitory neonatal diabetes mellitus +7 more	GConflicting classifications of pathogenicity
Select item 990397	NM_000352.6(ABCC8):c.2753G>A (p.Arg918Lys)	ABCC8 (R917K +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +6 more	GUncertain significance
Select item 303770	NM_000352.6(ABCC8):c.2694+15G>A	ABCC8	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 195647	NM_000352.6(ABCC8):c.2610C>T (p.Ala870=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +6 more	GConflicting classifications of pathogenicity
Select item 157692	NM_000352.6(ABCC8):c.2538C>T (p.His846=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +6 more	GConflicting classifications of pathogenicity
Select item 188915	NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)	ABCC8 (R836* +3 more)	Single nucleotide variant (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +5 more	GPathogenic/Likely pathogenic
Select item 303772	NM_000352.6(ABCC8):c.2500C>T (p.Arg834Cys)	ABCC8 (R834C +3 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +5 more	GConflicting classifications of pathogenicity
Select item 157691	NM_000352.6(ABCC8):c.2485C>T (p.Leu829=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Neonatal hypoglycemia +7 more	GBenign
Select item 1177448	NM_000352.6(ABCC8):c.2390+219T>C	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1177449	NM_000352.6(ABCC8):c.2390+123C>T	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1177450	NM_000352.6(ABCC8):c.2390+93C>T	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 303774	NM_000352.6(ABCC8):c.2256-3C>T	ABCC8	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 303775	NM_000352.6(ABCC8):c.2256-9C>T	ABCC8	Single nucleotide variant (intron variant)	Transitory neonatal diabetes mellitus +5 more	GConflicting classifications of pathogenicity
Select item 1177451	NM_000352.6(ABCC8):c.2256-50T>C	ABCC8	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 879979	NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys)	ABCC8 (W738C +2 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +7 more	GUncertain significance
Select item 877185	NM_000352.6(ABCC8):c.2206G>T (p.Ala736Ser)	ABCC8 (A736S +2 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related disorder +8 more	GUncertain significance
Select item 157688	NM_000352.6(ABCC8):c.2117-3C>T	ABCC8	Single nucleotide variant (intron variant)	Permanent neonatal diabetes mellitus +7 more	GBenign
Select item 303777	NM_000352.6(ABCC8):c.2060C>T (p.Thr687Met)	ABCC8 (T687M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 552764	NM_000352.6(ABCC8):c.1970G>A (p.Arg657Gln)	ABCC8 (R657Q +2 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +8 more	GUncertain significance
Select item 157686	NM_000352.6(ABCC8):c.1947G>A (p.Lys649=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 157685	NM_000352.6(ABCC8):c.1926C>G (p.Pro642=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 880040	NM_000352.6(ABCC8):c.1924-9C>T	ABCC8 (H661Y)	Single nucleotide variant (intron variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +5 more	GConflicting classifications of pathogenicity
Select item 990408	NM_000352.6(ABCC8):c.1923+3G>A	ABCC8	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +7 more	GUncertain significance
Select item 303780	NM_000352.6(ABCC8):c.1920G>A (p.Ala640=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, transient neonatal, 2 +6 more	GConflicting classifications of pathogenicity
Select item 210070	NM_000352.6(ABCC8):c.1707C>T (p.Ala569=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 157684	NM_000352.6(ABCC8):c.1686C>T (p.His562=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Cerebral edema +7 more	GConflicting classifications of pathogenicity
Select item 991050	NM_000352.6(ABCC8):c.1666C>T (p.Leu556Phe)	ABCC8 (L555F +1 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +6 more	GUncertain significance
Select item 878289	NM_000352.6(ABCC8):c.1630+8C>T	ABCC8	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +6 more	GConflicting classifications of pathogenicity
Select item 35606	NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys)	ABCC8 (Y539C +1 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 303781	NM_000352.6(ABCC8):c.1613T>C (p.Ile538Thr)	ABCC8 (I538T +1 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GUncertain significance
Select item 303782	NM_000352.6(ABCC8):c.1605C>T (p.Ala535=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +5 more	GConflicting classifications of pathogenicity
Select item 35604	NM_000352.6(ABCC8):c.1572G>A (p.Thr524=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +7 more	GConflicting classifications of pathogenicity
Select item 303783	NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr)	ABCC8 (A513T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 877308	NM_000352.6(ABCC8):c.1282C>G (p.Leu428Val)	ABCC8 (L427V +1 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +4 more	GUncertain significance
Select item 877310	NM_000352.6(ABCC8):c.1215C>T (p.Ser405=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +4 more	GUncertain significance
Select item 157681	NM_000352.6(ABCC8):c.1158C>T (p.Asn386=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +6 more	GConflicting classifications of pathogenicity
Select item 878930	NM_000352.6(ABCC8):c.933G>C (p.Leu311=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +5 more	GConflicting classifications of pathogenicity
Select item 303784	NM_000352.6(ABCC8):c.853C>T (p.Arg285Trp)	ABCC8 (R285W +1 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +5 more	GConflicting classifications of pathogenicity
Select item 991061	NM_000352.6(ABCC8):c.822+3C>T	ABCC8	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +6 more	GUncertain significance
Select item 877361	NM_000352.6(ABCC8):c.734T>C (p.Ile245Thr)	ABCC8 (I245T)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GUncertain significance
Select item 877362	NM_000352.6(ABCC8):c.723C>T (p.His241=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +5 more	GConflicting classifications of pathogenicity
Select item 878388	NM_000352.6(ABCC8):c.620C>T (p.Pro207Leu)	ABCC8 (P207L)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GUncertain significance
Select item 878389	NM_000352.6(ABCC8):c.587T>A (p.Ile196Asn)	ABCC8 (I196N)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GUncertain significance
Select item 878390	NM_000352.6(ABCC8):c.580-7C>A	ABCC8	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 157707	NM_000352.6(ABCC8):c.579+14C>T	ABCC8	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +7 more	GConflicting classifications of pathogenicity
Select item 303785	NM_000352.6(ABCC8):c.541A>T (p.Met181Leu)	ABCC8 (M181L)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GUncertain significance
Select item 878978	NM_000352.6(ABCC8):c.507C>T (p.Phe169=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +5 more	GConflicting classifications of pathogenicity
Select item 303786	NM_000352.6(ABCC8):c.486C>T (p.Ile162=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity

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