"Baylor Genetics"[submitter] AND "ABCC8"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188836	NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)	ABCC8 (L1543P +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +6 more	GPathogenic/Likely pathogenic
Select item 555529	NM_000352.6(ABCC8):c.4608G>A (p.Ala1536=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Type 2 diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 3241920	NM_000352.6(ABCC8):c.4549_4550del (p.Asn1517fs)	ABCC8 (N1516fs +3 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2677414	NM_000352.6(ABCC8):c.4545+2T>C	ABCC8	Single nucleotide variant (splice donor variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 370910	NM_000352.6(ABCC8):c.4478G>A (p.Arg1493Gln)	ABCC8 (R1493Q +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +2 more	GPathogenic/Likely pathogenic
Select item 964449	NM_000352.6(ABCC8):c.4477del (p.Arg1493fs)	ABCC8 (R1492fs +3 more)	Deletion (frameshift variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 9096	NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp)	ABCC8 (R1494W +3 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, transient neonatal, 2 +3 more	GConflicting classifications of pathogenicity
Select item 434045	NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)	ABCC8 (G1478R +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +6 more	GPathogenic/Likely pathogenic
Select item 2677432	NM_000352.6(ABCC8):c.4414G>A (p.Ala1472Thr)	ABCC8 (A1471T +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus	GPathogenic
Select item 2678581	NM_000352.6(ABCC8):c.4412-2A>C	ABCC8	Single nucleotide variant (splice acceptor variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 551999	NM_000352.6(ABCC8):c.4412-13G>A	ABCC8	Single nucleotide variant (intron variant)	Familial hyperinsulinism +3 more	GPathogenic/Likely pathogenic
Select item 188931	NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn)	ABCC8 (D1471N +3 more)	Single nucleotide variant (missense variant +1 more)	Familial hyperinsulinism +4 more	GPathogenic/Likely pathogenic
Select item 370329	NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter)	ABCC8 (W1451* +3 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 551208	NM_000352.6(ABCC8):c.4322del (p.Pro1441fs)	ABCC8 (P1440fs +3 more)	Deletion (frameshift variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 9086	NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln)	ABCC8 (R1436Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic
Select item 35617	NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)	ABCC8 (R1436* +3 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus +5 more	GPathogenic/Likely pathogenic
Select item 1065990	NM_000352.6(ABCC8):c.4297G>A (p.Gly1433Ser)	ABCC8 (G1432S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1098777	NM_000352.6(ABCC8):c.4288del (p.Leu1430fs)	ABCC8 (L1429fs +3 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus +1 more	GPathogenic/Likely pathogenic
Select item 2576195	NM_000352.6(ABCC8):c.4259G>A (p.Arg1420His)	ABCC8 (R1419H +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +1 more	GLikely pathogenic
Select item 9095	NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)	ABCC8 (R1421C +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 552540	NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His)	ABCC8 (R1418H +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +5 more	GPathogenic/Likely pathogenic
Select item 2677316	NM_000352.6(ABCC8):c.4238C>T (p.Pro1413Leu)	ABCC8 (P1412L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 35616	NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)	ABCC8 (G1400R +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +3 more	GPathogenic/Likely pathogenic
Select item 2678780	NM_000352.6(ABCC8):c.4181T>G (p.Met1394Arg)	ABCC8 (M1393R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 446776	NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His)	ABCC8 (R1393H +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 2418967	NM_000352.6(ABCC8):c.4177C>T (p.Arg1393Cys)	ABCC8 (R1392C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 196880	NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)	ABCC8 (F1388del +3 more)	Deletion (inframe_deletion +1 more)	Maturity onset diabetes mellitus in young +4 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)	Diabetes mellitus, transient neonatal, 2 +3 more	GConflicting classifications of pathogenicity
Select item 554195	NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg)	ABCC8 (G1379R +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +1 more	GPathogenic/Likely pathogenic
Select item 3240002	NM_000352.6(ABCC8):c.4119+1G>C	ABCC8	Single nucleotide variant (splice donor variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2576198	NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu)	ABCC8 (P1358L +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 9098	NM_000352.6(ABCC8):c.4055G>A (p.Arg1352His)	ABCC8 (R1353H +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +1 more	GLikely pathogenic
Select item 370722	NM_000352.6(ABCC8):c.4021C>T (p.Gln1341Ter)	ABCC8 (Q1341* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2676820	NM_000352.6(ABCC8):c.3989_3990insG (p.Pro1331fs)	ABCC8 (P1330fs +3 more)	Insertion (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 9088	NM_000352.6(ABCC8):c.3989-9G>A	ABCC8	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +5 more	GPathogenic
Select item 1457730	NM_000352.6(ABCC8):c.3988+2T>C	ABCC8	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GPathogenic
Select item 2678490	NM_000352.6(ABCC8):c.3941_3966del (p.Ile1314fs)	ABCC8 (I1313fs +3 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 552652	NM_000352.6(ABCC8):c.3868-1G>A	ABCC8	Single nucleotide variant (splice acceptor variant)	Type 2 diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 2676601	NM_000352.6(ABCC8):c.3827_3828del (p.Ser1276fs)	ABCC8 (S1275fs +3 more)	Microsatellite (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 2678207	NM_000352.6(ABCC8):c.3804del (p.Asn1269fs)	ABCC8 (N1268fs +3 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 552431	NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser)	ABCC8 (G1255S +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 552603	NM_000352.6(ABCC8):c.3754-1G>A	ABCC8	Single nucleotide variant (splice acceptor variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 370163	NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter)	ABCC8 (R1250* +3 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus +3 more	GPathogenic
Select item 556225	NM_000352.6(ABCC8):c.3736T>C (p.Trp1246Arg)	ABCC8 (W1246R +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 1066359	NM_000352.6(ABCC8):c.3651-1G>C	ABCC8	Single nucleotide variant (splice acceptor variant)	Type 2 diabetes mellitus +1 more	GLikely pathogenic
Select item 632619	NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln)	ABCC8 (R1214Q +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +6 more	GPathogenic/Likely pathogenic
Select item 235633	NM_000352.6(ABCC8):c.3640C>T (p.Arg1214Trp)	ABCC8 (R1214W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 370210	NM_000352.6(ABCC8):c.3574del (p.Asp1192fs)	ABCC8 (D1192fs +3 more)	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +6 more	GPathogenic/Likely pathogenic
Select item 157696	NM_000352.6(ABCC8):c.3509del (p.Leu1170fs)	ABCC8 (L1170fs +3 more)	Deletion (frameshift variant +1 more)	Familial hyperinsulinism +3 more	GPathogenic
Select item 3241628	NM_000352.6(ABCC8):c.3452C>A (p.Ser1151Ter)	ABCC8 (S1150* +3 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2576202	NM_000352.6(ABCC8):c.3440T>G (p.Leu1147Arg)	ABCC8 (L1146R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 370935	NM_000352.6(ABCC8):c.3400-1G>A	ABCC8	Single nucleotide variant (splice acceptor variant)	Type 2 diabetes mellitus +3 more	GPathogenic/Likely pathogenic
Select item 553787	NM_000352.6(ABCC8):c.3399+1G>A	ABCC8	Single nucleotide variant (splice donor variant)	Type 2 diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 2677767	NM_000352.6(ABCC8):c.3336del (p.Phe1112fs)	ABCC8 (F1111fs +3 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2675844	NM_000352.6(ABCC8):c.3330-1G>C	ABCC8	Single nucleotide variant (splice acceptor variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676995	NM_000352.6(ABCC8):c.3329+2T>C	ABCC8	Single nucleotide variant (splice donor variant)	Type 2 diabetes mellitus	GPathogenic
Select item 2677374	NM_000352.6(ABCC8):c.3329+1G>A	ABCC8	Single nucleotide variant (splice donor variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2677918	NM_000352.6(ABCC8):c.3302del (p.Leu1101fs)	ABCC8 (L1100fs +3 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676391	NM_000352.6(ABCC8):c.3231del (p.Cys1078fs)	ABCC8 (C1077fs +3 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2576205	NM_000352.6(ABCC8):c.3163-1G>A	ABCC8	Single nucleotide variant (splice acceptor variant)	Type 2 diabetes mellitus +1 more	GPathogenic
Select item 2678380	NM_000352.6(ABCC8):c.3162+2T>A	ABCC8	Single nucleotide variant (splice donor variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 1034174	NM_000352.6(ABCC8):c.3158G>A (p.Ser1053Asn)	ABCC8 (S1053N +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 280115	NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs)	ABCC8 (T1045fs +3 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 585343	NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter)	ABCC8 (W1036* +3 more)	Single nucleotide variant (nonsense +1 more)	Neonatal diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 845991	NM_000352.6(ABCC8):c.3082del (p.Ala1028fs)	ABCC8 (A1027fs +3 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 3239837	NM_000352.6(ABCC8):c.3007dup (p.Tyr1003fs)	ABCC8 (Y1002fs +3 more)	Duplication (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 434053	NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter)	ABCC8 (R998* +3 more)	Single nucleotide variant (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GPathogenic
Select item 434048	NM_000352.6(ABCC8):c.2921-9G>A	ABCC8	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 188905	NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)	ABCC8 (Q953* +3 more)	Single nucleotide variant (nonsense +1 more)	Familial hyperinsulinism +6 more	GPathogenic/Likely pathogenic
Select item 3239828	NM_000352.6(ABCC8):c.2806C>T (p.Gln936Ter)	ABCC8 (Q935* +3 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus	GPathogenic
Select item 1705703	NM_000352.6(ABCC8):c.2800C>T (p.Gln934Ter)	ABCC8 (Q933* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 188864	NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter)	ABCC8 (R933* +3 more)	Single nucleotide variant (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +5 more	GPathogenic/Likely pathogenic
Select item 3240020	NM_000352.6(ABCC8):c.2791_2792del (p.Met931fs)	ABCC8 (M930fs +3 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3239757	NM_000352.6(ABCC8):c.2760_2770del (p.Glu920fs)	ABCC8 (E919fs +3 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 371626	NM_000352.6(ABCC8):c.2695-1G>C	ABCC8	Single nucleotide variant (splice acceptor variant)	Type 2 diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 2137013	NM_000352.6(ABCC8):c.2694+1G>A	ABCC8	Single nucleotide variant (splice donor variant)	Type 2 diabetes mellitus +1 more	GPathogenic/Likely pathogenic
Select item 633028	NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)	ABCC8 (W898* +3 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus +4 more	GPathogenic/Likely pathogenic
Select item 2678807	NM_000352.6(ABCC8):c.2676C>G (p.Tyr892Ter)	ABCC8 (Y891* +3 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 558717	NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr)	ABCC8 (K889T +3 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes +5 more	GConflicting classifications of pathogenicity
Select item 2676532	NM_000352.6(ABCC8):c.2654T>A (p.Leu885Ter)	ABCC8 (L884* +3 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2677467	NM_000352.6(ABCC8):c.2557-2A>G	ABCC8	Single nucleotide variant (splice acceptor variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2678995	NM_000352.6(ABCC8):c.2556_2556+15delinsCCTGGGGTCCTTGT	ABCC8	Indel (splice donor variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 554121	NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)	ABCC8 (R841Q +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 996301	NM_000352.6(ABCC8):c.2521C>T (p.Arg841Ter)	ABCC8 (R840* +3 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus +4 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)	Neonatal diabetes mellitus +6 more	GPathogenic/Likely pathogenic
Select item 2677454	NM_000352.6(ABCC8):c.2497C>T (p.Gln833Ter)	ABCC8 (Q832* +3 more)	Single nucleotide variant (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +1 more	GPathogenic/Likely pathogenic
Select item 3241777	NM_000352.6(ABCC8):c.2470G>T (p.Glu824Ter)	ABCC8, LOC110121471 (E823* +3 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus	GPathogenic
Select item 2678187	NM_000352.6(ABCC8):c.2388del (p.Gln796fs)	ABCC8, LOC110121471 (Q795fs +3 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2675870	NM_000352.6(ABCC8):c.2305_2327del (p.Val769fs)	ABCC8, LOC110121471 (V768fs +3 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 1371056	NM_000352.6(ABCC8):c.2266G>T (p.Glu756Ter)	ABCC8 (E757* +3 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus +1 more	GPathogenic
Select item 3241413	NM_000352.6(ABCC8):c.2256-1G>A	ABCC8	Single nucleotide variant (splice acceptor variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 370562	NM_000352.6(ABCC8):c.2255+2T>C	ABCC8	Single nucleotide variant (splice donor variant)	Type 2 diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 1071339	NM_000352.6(ABCC8):c.2252_2253dup (p.Ser752fs)	ABCC8 (S751fs +3 more)	Duplication (frameshift variant +1 more)	Type 2 diabetes mellitus +1 more	GPathogenic/Likely pathogenic
Select item 848198	NM_000352.6(ABCC8):c.2236G>T (p.Glu746Ter)	ABCC8 (E768* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 554770	NM_000352.6(ABCC8):c.2222+1G>A	ABCC8	Single nucleotide variant (splice donor variant)	Type 2 diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 555310	NM_000352.6(ABCC8):c.2202del (p.Ala736fs)	ABCC8 (A758fs +2 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 1048785	NM_000352.6(ABCC8):c.2169_2171del (p.Leu724del)	ABCC8 (L723del +2 more)	Deletion (inframe_deletion +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GConflicting classifications of pathogenicity
Select item 2679008	NM_000352.6(ABCC8):c.2140C>T (p.Gln714Ter)	ABCC8 (Q713* +2 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 210072	NM_000352.6(ABCC8):c.2117-1G>A	ABCC8	Single nucleotide variant (splice acceptor variant)	Type 2 diabetes mellitus +2 more	GPathogenic
Select item 962983	NM_000352.6(ABCC8):c.2117-2A>T	ABCC8	Single nucleotide variant (splice acceptor variant)	not provided +4 more	GPathogenic

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