ClinVar for MedGen (Select 419505) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068499	Single allele	CFAP61, CRNKL1 +10 more	Complex	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068497	NC_000020.10:g.18200000_22600000del	CFAP61, CRNKL1 +19 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068496	NC_000020.10:g.19434987_22528253del	CFAP61, CRNKL1 +10 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068495	NC_000020.10:g.20158646_24080787del	CD93, CFAP61 +24 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3065098	NM_000352.6(ABCC8):c.4297G>C (p.Gly1433Arg)	ABCC8 (G1432R +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
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 2665044	NM_000352.6(ABCC8):c.1672-473T>G	ABCC8	Single nucleotide variant (intron variant)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2637920	NM_000352.6(ABCC8):c.4383_4384dup (p.Val1462fs)	ABCC8 (V1461fs +3 more)	Duplication (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GLikely pathogenic
Select item 2584636	NM_000352.6(ABCC8):c.1468-52G>A	ABCC8	Single nucleotide variant (intron variant)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2576221	NM_000352.6(ABCC8):c.106C>T (p.His36Tyr)	ABCC8 (H36Y)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2576220	NM_000352.6(ABCC8):c.55C>T (p.Gln19Ter)	ABCC8 (Q19*)	Single nucleotide variant (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 2576219	NM_000352.6(ABCC8):c.61G>A (p.Val21Ile)	ABCC8 (V21I)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2576218	NM_000352.6(ABCC8):c.4324G>A (p.Glu1442Lys)	ABCC8 (E1441K +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +1 more	GUncertain significance
Select item 2576217	NM_000352.6(ABCC8):c.107A>G (p.His36Arg)	ABCC8 (H36R)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2576216	NM_000352.6(ABCC8):c.148+1G>A	ABCC8	Single nucleotide variant (splice donor variant)	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 2576215	NM_000352.6(ABCC8):c.929A>T (p.Asp310Val)	ABCC8 (D309V +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +1 more	GUncertain significance
Select item 2576214	NM_000352.6(ABCC8):c.1112C>T (p.Thr371Ile)	ABCC8 (T370I +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +1 more	GUncertain significance
Select item 2576213	NM_000352.6(ABCC8):c.1138del (p.Ala380fs)	ABCC8 (A379fs +1 more)	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 2576212	NM_000352.6(ABCC8):c.1290G>A (p.Trp430Ter)	ABCC8 (W429* +1 more)	Single nucleotide variant (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 2576211	NM_000352.6(ABCC8):c.4453C>T (p.Gln1485Ter)	ABCC8 (Q1484* +3 more)	Single nucleotide variant (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 2576210	NM_000352.6(ABCC8):c.2151C>A (p.Cys717Ter)	ABCC8 (C716* +2 more)	Single nucleotide variant (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 2576209	NM_000352.6(ABCC8):c.2350GAG[1] (p.Glu785del)	ABCC8, LOC110121471 (E784del +3 more)	Microsatellite (inframe_deletion +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2576208	NM_000352.6(ABCC8):c.2699T>C (p.Ile900Thr)	ABCC8 (I899T +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2576207	NM_000352.6(ABCC8):c.2980G>T (p.Glu994Ter)	ABCC8 (E1016* +3 more)	Single nucleotide variant (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 2576206	NM_000352.6(ABCC8):c.3126_3127insAGGAACTG (p.Leu1043fs)	ABCC8 (L1042fs +3 more)	Insertion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	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 2576204	NM_000352.6(ABCC8):c.3330-13G>A	ABCC8	Single nucleotide variant (intron variant)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2576203	NM_000352.6(ABCC8):c.3398A>G (p.Gln1133Arg)	ABCC8 (Q1132R +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2576202	NM_000352.6(ABCC8):c.3440T>G (p.Leu1147Arg)	ABCC8 (L1146R +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +1 more	GLikely pathogenic
Select item 2576201	NM_000352.6(ABCC8):c.3447T>A (p.Cys1149Ter)	ABCC8 (C1148* +3 more)	Single nucleotide variant (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 2576200	NM_000352.6(ABCC8):c.3828del (p.Ala1277fs)	ABCC8 (A1276fs +3 more)	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 2576199	NM_000352.6(ABCC8):c.3995C>A (p.Ser1332Ter)	ABCC8 (S1331* +3 more)	Single nucleotide variant (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2576197	NM_000352.6(ABCC8):c.4114C>T (p.Gln1372Ter)	ABCC8 (Q1371* +3 more)	Single nucleotide variant (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 2576196	NM_000352.6(ABCC8):c.4123G>A (p.Gly1375Arg)	ABCC8 (G1374R +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2576195	NM_000352.6(ABCC8):c.4259G>A (p.Arg1420His)	ABCC8 (R1419H +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +1 more	GLikely pathogenic
Select item 2576194	NM_000352.6(ABCC8):c.3551C>A (p.Ala1184Glu)	ABCC8 (A1183E +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 2576193	NM_000352.6(ABCC8):c.4649T>A (p.Val1550Asp)	ABCC8 (V1549D +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2506186	NM_000352.6(ABCC8):c.4486G>A (p.Val1496Met)	ABCC8 (V1495M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2502243	NM_000352.6(ABCC8):c.2684A>T (p.His895Leu)	ABCC8 (H894L +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2502242	NM_000352.6(ABCC8):c.1012-7C>G	ABCC8	Single nucleotide variant (intron variant)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2502222	NM_000352.6(ABCC8):c.1913A>C (p.Tyr638Ser)	ABCC8 (Y637S +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2502195	NM_000352.6(ABCC8):c.1571C>T (p.Thr524Met)	ABCC8 (T523M +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2502193	NM_000352.6(ABCC8):c.1332+3A>G	ABCC8	Single nucleotide variant (intron variant)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2502189	NM_000352.6(ABCC8):c.3928G>T (p.Ala1310Ser)	ABCC8 (A1309S +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2502187	NM_000352.6(ABCC8):c.2105G>A (p.Arg702His)	ABCC8 (R701H +2 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2502170	NM_000352.6(ABCC8):c.421G>A (p.Val141Met)	ABCC8 (V141M)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2501665	NM_000352.6(ABCC8):c.3126_3129delinsTC (p.Leu1043fs)	ABCC8 (L1042fs +3 more)	Indel (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 2444144	NM_000352.6(ABCC8):c.1571_1588del (p.Thr524_Glu529del)	ABCC8	Deletion (inframe_deletion +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2395795	NM_000352.6(ABCC8):c.689A>G (p.Tyr230Cys)	ABCC8 (Y230C)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +1 more	GUncertain significance
Select item 2137020	NM_000352.6(ABCC8):c.19G>C (p.Gly7Arg)	ABCC8 (G7R)	Single nucleotide variant (missense variant +1 more)	Familial hyperinsulinism +3 more	GLikely pathogenic
Select item 2137019	NM_000352.6(ABCC8):c.1817+2T>C	ABCC8	Single nucleotide variant (splice donor variant)	Hyperinsulinemic hypoglycemia, familial, 1 +1 more	GPathogenic/Likely pathogenic
Select item 2137006	NM_000352.6(ABCC8):c.4532T>C (p.Ile1511Thr)	ABCC8 (I1510T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1878337	NM_000352.6(ABCC8):c.1630+1G>A	ABCC8	Single nucleotide variant (splice donor variant)	Hyperinsulinemic hypoglycemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 1803915	NM_000352.6(ABCC8):c.2164C>T (p.Leu722Phe)	ABCC8 (L721F +2 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 3 +1 more	GUncertain significance
Select item 1726893	NM_000352.6(ABCC8):c.752_753del (p.Gly251fs)	ABCC8 (G251fs)	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1726846	NM_000352.6(ABCC8):c.992_993delinsTCTT (p.Asn331fs)	ABCC8 (N330fs +1 more)	Indel (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1726804	NM_000352.6(ABCC8):c.4220_4221insACAGG (p.Asp1408fs)	ABCC8 (D1407fs +3 more)	Insertion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1726802	NM_000352.6(ABCC8):c.771_772insGAAACCCA (p.Arg258fs)	ABCC8 (R258fs)	Insertion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1726794	NM_000352.6(ABCC8):c.1073T>A (p.Leu358Ter)	ABCC8 (L357* +1 more)	Single nucleotide variant (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1726725	NM_000352.6(ABCC8):c.3842del (p.Gly1281fs)	ABCC8 (G1280fs +3 more)	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1726711	NM_000352.6(ABCC8):c.698_699del (p.Met233fs)	ABCC8 (M233fs)	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1726667	NM_000352.6(ABCC8):c.1945A>T (p.Lys649Ter)	ABCC8 (K648* +2 more)	Single nucleotide variant (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1726182	NM_000352.6(ABCC8):c.966del (p.Ile323fs)	ABCC8 (I322fs +1 more)	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1725995	NM_000352.6(ABCC8):c.3454del (p.Ala1152fs)	ABCC8 (A1151fs +3 more)	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1725902	NM_000352.6(ABCC8):c.3673_3676del (p.Lys1225fs)	ABCC8 (K1224fs +3 more)	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1725711	NM_000352.6(ABCC8):c.3269_3270del (p.Leu1090fs)	ABCC8 (L1089fs +3 more)	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1725705	NM_000352.6(ABCC8):c.1858del (p.Arg620fs)	ABCC8 (R619fs +1 more)	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1725469	NM_000352.6(ABCC8):c.206del (p.Pro69fs)	ABCC8 (P69fs)	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1725424	NM_000352.6(ABCC8):c.1895_1913delinsTT (p.Gln632fs)	ABCC8 (Q631fs +1 more)	Indel (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1725384	NM_000352.6(ABCC8):c.3264_3265insTTTTATAGAT (p.Gly1089fs)	ABCC8 (G1088fs +3 more)	Insertion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1725314	NM_000352.6(ABCC8):c.3881_3882del (p.Leu1294fs)	ABCC8 (L1293fs +3 more)	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1725287	NM_000352.6(ABCC8):c.3919C>T (p.Gln1307Ter)	ABCC8 (Q1306* +3 more)	Single nucleotide variant (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1725278	NM_000352.6(ABCC8):c.3508_3509insA (p.Leu1170fs)	ABCC8 (L1169fs +3 more)	Insertion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1725152	NM_000352.6(ABCC8):c.2318C>A (p.Ser773Ter)	ABCC8, LOC110121471 (S772* +3 more)	Single nucleotide variant (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1725106	NM_000352.6(ABCC8):c.1209del (p.Thr404fs)	ABCC8 (T403fs +1 more)	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1725084	NM_000352.6(ABCC8):c.2070del (p.Asp691fs)	ABCC8 (D690fs +2 more)	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1724908	NM_000352.6(ABCC8):c.480_481insAGATGTGTATAAGAGACAG (p.Ala161delinsArgCysValTer)	ABCC8	Insertion (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1724819	NM_000352.6(ABCC8):c.3733A>T (p.Arg1245Ter)	ABCC8 (R1244* +3 more)	Single nucleotide variant (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1724765	NM_000352.6(ABCC8):c.707_708del (p.Phe236fs)	ABCC8 (F236fs)	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1724670	NM_000352.6(ABCC8):c.1040C>G (p.Ser347Ter)	ABCC8 (S346* +1 more)	Single nucleotide variant (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1724534	NM_000352.6(ABCC8):c.3958del (p.Thr1320fs)	ABCC8 (T1319fs +3 more)	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1724516	NM_000352.6(ABCC8):c.3921del (p.Gln1307fs)	ABCC8 (Q1306fs +3 more)	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1724457	NM_000352.6(ABCC8):c.1973del (p.Gly658fs)	ABCC8 (G657fs +2 more)	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1724421	NM_000352.6(ABCC8):c.3351dup (p.Gly1118fs)	ABCC8 (G1117fs +3 more)	Duplication (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1724055	NM_000352.6(ABCC8):c.326del (p.Pro109fs)	ABCC8 (P109fs)	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1723123	NM_000352.6(ABCC8):c.4168G>C (p.Ala1390Pro)	ABCC8 (A1389P +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
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 1705497	NM_000352.6(ABCC8):c.3753+1G>T	ABCC8	Single nucleotide variant (splice donor variant)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1687616	NM_000352.6(ABCC8):c.3575dup (p.Asp1192fs)	ABCC8 (D1191fs +3 more)	Duplication (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 1687449	NM_000352.6(ABCC8):c.693G>A (p.Trp231Ter)	ABCC8 (W231*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1687413	NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg)	ABCC8 (G315R +1 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, transient neonatal, 2 +5 more	GConflicting classifications of pathogenicity
Select item 1684260	NM_000352.6(ABCC8):c.4090G>T (p.Val1364Phe)	ABCC8 (V1363F +3 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, transient neonatal, 2 +6 more	GConflicting classifications of pathogenicity
Select item 1677653	NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg)	ABCC8 (G70R)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 3 +6 more	GConflicting classifications of pathogenicity
Select item 1677456	NM_000352.6(ABCC8):c.916C>A (p.Arg306Ser)	ABCC8 (R305S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 1673251	NM_000352.6(ABCC8):c.894C>A (p.Arg298=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, transient neonatal, 2 +5 more	GLikely benign
Select item 1668506	NM_000352.6(ABCC8):c.3765T>A (p.Gly1255=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
Select item 1664782	NM_000352.6(ABCC8):c.2391-17G>T	LOC110121471, ABCC8	Single nucleotide variant (intron variant)	Diabetes mellitus, transient neonatal, 2 +5 more	GBenign
Select item 1626109	NM_000352.6(ABCC8):c.2473C>A (p.Arg825=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, transient neonatal, 2 +5 more	GLikely benign

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