C2931832[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 550926	NM_000352.6(ABCC8):c.4685del (p.Pro1562fs)	ABCC8 (P1562fs +3 more)	Deletion (frameshift variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
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 35623	NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met)	ABCC8 (V1539M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 556392	NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter)	ABCC8 (R1538* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 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 556519	NM_000352.6(ABCC8):c.4607C>T (p.Ala1536Val)	ABCC8 (A1536V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 554959	NM_000352.6(ABCC8):c.4563G>C (p.Lys1521Asn)	ABCC8 (K1521N +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 556006	NM_000352.6(ABCC8):c.4545+2T>G	ABCC8	Single nucleotide variant (splice donor variant)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
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 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 370647	NM_000352.6(ABCC8):c.4474del (p.Ala1492fs)	ABCC8 (A1491fs +3 more)	Deletion (frameshift variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 551485	NM_000352.6(ABCC8):c.4456_4461del (p.Arg1486_Gln1487del)	ABCC8	Deletion (inframe_deletion +1 more)	Transitory neonatal diabetes mellitus +2 more	GUncertain significance
Select item 551204	NM_000352.6(ABCC8):c.4446C>A (p.Ser1482Arg)	ABCC8 (S1482R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +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 557188	NM_000352.6(ABCC8):c.4412-2A>G	ABCC8	Single nucleotide variant (splice acceptor variant)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
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 557349	NM_000352.6(ABCC8):c.4340_4362del (p.Asp1447fs)	ABCC8 (D1447fs +3 more)	Deletion (frameshift variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
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 554619	NM_000352.6(ABCC8):c.4349T>C (p.Leu1450Pro)	ABCC8 (L1450P +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +3 more	GUncertain significance
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 280114	NM_000352.6(ABCC8):c.4308-2A>G	ABCC8	Single nucleotide variant (splice acceptor variant)	Hyperinsulinemic hypoglycemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
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 550214	NM_000352.6(ABCC8):c.4275_4291del (p.Asp1427fs)	ABCC8 (D1426fs +3 more)	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
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 551435	NM_000352.6(ABCC8):c.4253G>T (p.Arg1418Leu)	ABCC8 (R1419L +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 554372	NM_000352.6(ABCC8):c.4141G>A (p.Gly1381Ser)	ABCC8 (G1381S +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +1 more	GUncertain significance
Select item 35614	NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser)	ABCC8 (R1379S +3 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes +3 more	GUncertain significance
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 371608	NM_000352.6(ABCC8):c.4120-1G>T	ABCC8	Single nucleotide variant (splice acceptor variant)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 371155	NM_000352.6(ABCC8):c.4119+1del	ABCC8	Deletion (splice donor variant)	Hyperinsulinemic hypoglycemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 210078	NM_000352.6(ABCC8):c.4119+1G>A	ABCC8	Single nucleotide variant (splice donor variant)	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 553439	NM_000352.6(ABCC8):c.4115AGA[1] (p.Lys1373del)	ABCC8 (K1372del +1 more)	Deletion (inframe_deletion +1 more)	Transitory neonatal diabetes mellitus +2 more	GUncertain significance
Select item 556207	NM_000352.6(ABCC8):c.4097C>A (p.Ala1366Asp)	ABCC8 (A1366D +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 557361	NM_000352.6(ABCC8):c.4096G>A (p.Ala1366Thr)	ABCC8 (A1366T +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 370948	NM_000352.6(ABCC8):c.4072_4073delinsT (p.Lys1358fs)	ABCC8 (K1358fs +3 more)	Indel (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GConflicting classifications of pathogenicity
Select item 557081	NM_000352.6(ABCC8):c.4026_4027insC (p.Lys1343fs)	ABCC8 (K1343fs +3 more)	Insertion (frameshift variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
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 557922	NM_000352.6(ABCC8):c.4012T>A (p.Trp1338Arg)	ABCC8 (W1338R +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GUncertain significance
Select item 551087	NM_000352.6(ABCC8):c.4008G>C (p.Lys1336Asn)	ABCC8 (K1337N +3 more)	Single nucleotide variant (missense variant +1 more)	Permanent neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 553140	NM_000352.6(ABCC8):c.3989-3C>G	ABCC8	Single nucleotide variant (non-coding transcript variant +1 more)	Maturity onset diabetes mellitus in young +3 more	GUncertain significance
Select item 554962	NM_000352.6(ABCC8):c.3938G>A (p.Arg1313His)	ABCC8 (R1314H +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +5 more	GUncertain significance
Select item 551513	NM_000352.6(ABCC8):c.3905C>T (p.Ala1302Val)	ABCC8 (A1302V +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GUncertain significance
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 446771	NM_000352.6(ABCC8):c.3867+7G>A	ABCC8	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +6 more	GConflicting classifications of pathogenicity
Select item 550721	NM_000352.6(ABCC8):c.3788C>A (p.Ala1263Glu)	ABCC8 (A1263E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 553824	NM_000352.6(ABCC8):c.3759_3767dup (p.Ile1254_Ala1256dup)	ABCC8	Duplication (inframe_insertion +1 more)	Transitory neonatal diabetes mellitus +2 more	GUncertain significance
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 558435	NM_000352.6(ABCC8):c.3754-2A>G	ABCC8	Single nucleotide variant (splice acceptor variant)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 552226	NM_000352.6(ABCC8):c.3753+1G>A	ABCC8	Single nucleotide variant (splice donor variant)	Hypoglycemia +3 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 371442	NM_000352.6(ABCC8):c.3650+2T>A	ABCC8	Single nucleotide variant (splice donor variant)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GConflicting classifications of pathogenicity
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 555696	NM_000352.6(ABCC8):c.3557+1del	ABCC8	Deletion (splice donor variant)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 555518	NM_000352.6(ABCC8):c.3557+1G>A	ABCC8	Single nucleotide variant (splice donor variant)	Hyperinsulinemic hypoglycemia, familial, 1 +1 more	GLikely pathogenic
Select item 555340	NM_000352.6(ABCC8):c.3553_3557dup (p.Arg1186fs)	ABCC8 (R1208fs +3 more)	Duplication (frameshift variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 551478	NM_000352.6(ABCC8):c.3557+1G>T	ABCC8	Single nucleotide variant (splice donor variant)	Transitory neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 370375	NM_000352.6(ABCC8):c.3525C>G (p.Tyr1175Ter)	ABCC8 (Y1175* +3 more)	Single nucleotide variant (nonsense +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
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 558019	NM_000352.6(ABCC8):c.3470_3472del (p.Ser1157del)	ABCC8 (S1157del +3 more)	Deletion (inframe_deletion +1 more)	Transitory neonatal diabetes mellitus +2 more	GUncertain significance
Select item 550226	NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs)	ABCC8 (V1150fs +3 more)	Microsatellite (frameshift variant +1 more)	Transitory neonatal diabetes mellitus +3 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 303764	NM_000352.6(ABCC8):c.3399+13G>A	ABCC8	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
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 550368	NM_000352.6(ABCC8):c.3243_3251del (p.Ser1082_Thr1084del)	ABCC8	Deletion (inframe_deletion +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GUncertain significance
Select item 553564	NM_000352.6(ABCC8):c.3151_3162+15del	ABCC8	Deletion (splice donor variant)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
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 188894	NM_000352.6(ABCC8):c.3124_3126delinsCAGCCAGGAACTG (p.Thr1042fs)	ABCC8 (T1041fs +3 more)	Indel (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +1 more	GPathogenic/Likely pathogenic
Select item 370556	NM_000352.6(ABCC8):c.3108G>A (p.Trp1036Ter)	ABCC8 (W1036* +3 more)	Single nucleotide variant (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 549939	NM_000352.6(ABCC8):c.3088G>A (p.Asp1030Asn)	ABCC8 (D1031N +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +3 more	GUncertain significance
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 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 556981	NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs)	ABCC8 (R968fs +3 more)	Microsatellite (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
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 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 551652	NM_000352.6(ABCC8):c.2694+4A>T	ABCC8	Single nucleotide variant (intron variant)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 550692	NM_000352.6(ABCC8):c.2694+3G>A	ABCC8	Single nucleotide variant (intron variant)	Transitory neonatal diabetes mellitus +2 more	GUncertain significance
Select item 552551	NM_000352.6(ABCC8):c.2694+1G>C	ABCC8	Single nucleotide variant (splice donor variant)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 371115	NM_000352.6(ABCC8):c.2683dup (p.His895fs)	ABCC8 (H894fs +3 more)	Duplication (frameshift variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
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 370836	NM_000352.6(ABCC8):c.2556+1G>A	ABCC8	Single nucleotide variant (splice donor variant)	Hyperinsulinemic hypoglycemia, familial, 1	GConflicting classifications of pathogenicity
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 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 556366	NM_000352.6(ABCC8):c.2475+19G>A	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 552425	NM_000352.6(ABCC8):c.2454_2456del (p.Asp818_Gln819delinsGlu)	ABCC8, LOC110121471	Deletion (inframe_indel +1 more)	Transitory neonatal diabetes mellitus +2 more	GUncertain significance
Select item 550376	NM_000352.6(ABCC8):c.2256-16del	ABCC8	Deletion (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
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 558288	NM_000352.6(ABCC8):c.2222+15C>A	ABCC8	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
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 552779	NM_000352.6(ABCC8):c.2222+1G>T	ABCC8	Single nucleotide variant (splice donor variant)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
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 553845	NM_000352.6(ABCC8):c.2180T>G (p.Leu727Arg)	ABCC8 (L727R +2 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 189120	NM_000352.6(ABCC8):c.2124_2127del (p.Leu708_Thr709insTer)	ABCC8	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GConflicting classifications of pathogenicity
Select item 189078	NM_000352.6(ABCC8):c.2116+2T>C	ABCC8	Single nucleotide variant (splice donor variant)	Neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 556689	NM_000352.6(ABCC8):c.2116+1G>T	ABCC8	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 551206	NM_000352.6(ABCC8):c.2116+1G>A	ABCC8	Single nucleotide variant (splice donor variant)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity

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