ClinVar for MedGen (Select 449530) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1802673	NM_001042413.2(GLIS3):c.1327C>G (p.Leu443Val)	GLIS3 (L288V +1 more)	Single nucleotide variant (missense variant)	Transitory neonatal diabetes mellitus	GLikely benign
Select item 1802672	NM_001042413.2(GLIS3):c.1092G>A (p.Pro364=)	GLIS3	Single nucleotide variant (synonymous variant)	Transitory neonatal diabetes mellitus	GBenign
Select item 1697233	NM_000352.6(ABCC8):c.1630+5G>A	ABCC8	Single nucleotide variant (intron variant)	Transitory neonatal diabetes mellitus +1 more	GUncertain significance
Select item 1697229	NM_000352.6(ABCC8):c.1716G>A (p.Ser572=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 1697228	NM_000352.6(ABCC8):c.1833C>T (p.Ser611=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 1693120	NM_000352.6(ABCC8):c.890G>T (p.Arg297Met)	ABCC8 (R296M +1 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GUncertain significance
Select item 1693115	NM_000352.6(ABCC8):c.878A>G (p.His293Arg)	ABCC8 (H292R +1 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GUncertain significance
Select item 1691268	NM_000352.6(ABCC8):c.97G>A (p.Val33Met)	ABCC8 (V33M)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +1 more	GUncertain significance
Select item 1691267	NC_000011.10:g.17476889C>A	ABCC8	Single nucleotide variant	Transitory neonatal diabetes mellitus +1 more	GUncertain significance
Select item 1691266	NM_000352.6(ABCC8):c.4C>T (p.Pro2Ser)	ABCC8 (P2S)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GUncertain significance
Select item 1691265	NM_000352.6(ABCC8):c.35C>T (p.Ser12Leu)	ABCC8 (S12L)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +1 more	GUncertain significance
Select item 1691264	NM_000352.6(ABCC8):c.297C>A (p.Thr99=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 1691263	NM_000352.6(ABCC8):c.279C>T (p.Ile93=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +1 more	GUncertain significance
Select item 1691261	NM_000352.6(ABCC8):c.496C>A (p.Gln166Lys)	ABCC8 (Q166K)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +1 more	GUncertain significance
Select item 1691230	NM_000352.6(ABCC8):c.145A>G (p.Ile49Val)	ABCC8 (I49V)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 1691223	NM_000352.6(ABCC8):c.765C>G (p.Ile255Met)	ABCC8 (I255M)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 1691101	NC_000011.10:g.17477161C>A	ABCC8	Single nucleotide variant	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 1691092	NM_000352.6(ABCC8):c.1468-2A>T	ABCC8	Single nucleotide variant (splice acceptor variant)	Transitory neonatal diabetes mellitus +1 more	GUncertain significance
Select item 1691079	NM_000352.6(ABCC8):c.1428C>G (p.Phe476Leu)	ABCC8 (F475L +1 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +1 more	GUncertain significance
Select item 1690303	NM_000352.6(ABCC8):c.2236G>A (p.Glu746Lys)	ABCC8 (E745K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1690302	NM_000352.6(ABCC8):c.2235C>A (p.Ser745Arg)	ABCC8 (S744R +3 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 1690301	NM_000352.6(ABCC8):c.2285A>G (p.Asp762Gly)	ABCC8 (D761G +3 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 1690300	NM_000352.6(ABCC8):c.2117-10C>T	ABCC8	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 1690299	NM_000352.6(ABCC8):c.2057T>A (p.Phe686Tyr)	ABCC8 (F685Y +2 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 1687740	NM_000352.6(ABCC8):c.2368G>A (p.Glu790Lys)	ABCC8, LOC110121471 (E789K +3 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 1687730	NM_000352.6(ABCC8):c.2858A>G (p.Gln953Arg)	ABCC8 (Q952R +3 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 1687727	NM_000352.6(ABCC8):c.3018C>A (p.Ser1006=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 1687726	NM_000352.6(ABCC8):c.3076C>G (p.Leu1026Val)	ABCC8 (L1025V +3 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 1687725	NM_000352.6(ABCC8):c.3087C>A (p.Ile1029=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 1687631	NM_000352.6(ABCC8):c.2040+100G>T	ABCC8	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 1687630	NM_000352.6(ABCC8):c.3318A>C (p.Leu1106=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 1687623	NM_000352.6(ABCC8):c.3147C>T (p.Asn1049=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 1684533	NM_000352.6(ABCC8):c.2539G>C (p.Ala847Pro)	ABCC8 (A846P +3 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 1684532	NM_000352.6(ABCC8):c.2556+1G>T	ABCC8	Single nucleotide variant (splice donor variant)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 1684496	NM_000352.6(ABCC8):c.3516C>A (p.Ile1172=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 1684494	NM_000352.6(ABCC8):c.3558-7G>T	ABCC8	Single nucleotide variant (intron variant)	Transitory neonatal diabetes mellitus +1 more	GConflicting classifications of pathogenicity
Select item 1684493	NM_000352.6(ABCC8):c.3681C>G (p.Leu1227=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +2 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)	Transitory neonatal diabetes mellitus +6 more	GConflicting classifications of pathogenicity
Select item 1684040	NM_000352.6(ABCC8):c.4281C>A (p.Asp1427Glu)	ABCC8 (D1426E +3 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 1684039	NM_000352.6(ABCC8):c.4307+13A>G	ABCC8	Single nucleotide variant (intron variant)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 1684036	NM_000352.6(ABCC8):c.4545+4G>C	ABCC8	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 1683782	NM_000352.6(ABCC8):c.4612C>G (p.Arg1538Gly)	ABCC8 (R1537G +3 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 1679512	NM_000525.4(KCNJ11):c.149G>T (p.Arg50Leu)	KCNJ11 (R50L)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus	GLikely risk allele
Select item 1605682	NM_000352.6(ABCC8):c.954G>C (p.Leu318=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +2 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 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 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 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 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 1135533	NM_000352.6(ABCC8):c.2291+7C>T	ABCC8	Single nucleotide variant (intron variant)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 1133548	NM_000352.6(ABCC8):c.1767G>A (p.Pro589=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1112579	NM_000352.6(ABCC8):c.4368C>T (p.Ile1456=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 1112025	NM_000352.6(ABCC8):c.639G>A (p.Leu213=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1106008	NM_000352.6(ABCC8):c.3081G>A (p.Val1027=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 1078817	NM_000352.6(ABCC8):c.1269C>T (p.Ile423=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1067664	NM_000352.6(ABCC8):c.148+2T>C	ABCC8	Single nucleotide variant (splice donor variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1028699	NM_000352.6(ABCC8):c.1096C>T (p.Leu366Phe)	ABCC8 (L365F +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +3 more	GUncertain significance
Select item 1027359	NM_000352.6(ABCC8):c.4171T>G (p.Phe1391Val)	ABCC8 (F1390V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GUncertain significance
Select item 994766	NM_000352.6(ABCC8):c.4274T>C (p.Leu1425Pro)	ABCC8 (L1424P +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GUncertain significance
Select item 994765	NM_000352.6(ABCC8):c.3872_3873dup (p.Asn1292fs)	ABCC8 (N1291fs +3 more)	Duplication (frameshift variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 994763	NM_000352.6(ABCC8):c.1818-7del	ABCC8	Deletion (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 994762	NM_000352.6(ABCC8):c.1178C>T (p.Thr393Ile)	ABCC8 (T392I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 991067	NM_000352.6(ABCC8):c.148+4A>T	ABCC8	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 991066	NM_000352.6(ABCC8):c.255G>A (p.Leu85=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +7 more	GConflicting classifications of pathogenicity
Select item 991065	NM_000352.6(ABCC8):c.414C>T (p.Ala138=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 991064	NM_000352.6(ABCC8):c.508T>G (p.Cys170Gly)	ABCC8 (C170G)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 991063	NM_000352.6(ABCC8):c.604A>T (p.Arg202Trp)	ABCC8 (R202W)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +1 more	GUncertain significance
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 991060	NM_000352.6(ABCC8):c.881C>A (p.Ala294Asp)	ABCC8 (A293D +1 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +1 more	GUncertain significance
Select item 991058	NM_000352.6(ABCC8):c.942C>T (p.Phe314=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 991056	NM_000352.6(ABCC8):c.1261G>A (p.Val421Ile)	ABCC8 (V420I +1 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +1 more	GUncertain significance
Select item 991055	NM_000352.6(ABCC8):c.1407A>C (p.Leu469=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 991053	NM_000352.6(ABCC8):c.1433C>G (p.Ala478Gly)	ABCC8 (A477G +1 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 991051	NM_000352.6(ABCC8):c.1483C>T (p.Arg495Trp)	ABCC8 (R494W +1 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GUncertain significance
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 991047	NM_000352.6(ABCC8):c.1849G>A (p.Ala617Thr)	ABCC8 (A616T +1 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +1 more	GUncertain significance
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 990407	NM_000352.6(ABCC8):c.2209G>A (p.Val737Ile)	ABCC8 (V736I +2 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 990406	NM_000352.6(ABCC8):c.2222+12A>G	ABCC8	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 990405	NM_000352.6(ABCC8):c.2259A>G (p.Pro753=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 990403	NM_000352.6(ABCC8):c.2391-5G>A	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 990401	NM_000352.6(ABCC8):c.2544C>T (p.Asn848=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 990400	NM_000352.6(ABCC8):c.2556+9A>C	ABCC8	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 990399	NM_000352.6(ABCC8):c.2574T>C (p.Ala858=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 990398	NM_000352.6(ABCC8):c.2648T>G (p.Val883Gly)	ABCC8 (V882G +3 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
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 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 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 990393	NM_000352.6(ABCC8):c.3172C>T (p.Leu1058Phe)	ABCC8 (L1057F +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +1 more	GUncertain significance
Select item 990392	NM_000352.6(ABCC8):c.3308G>A (p.Arg1103Gln)	ABCC8 (R1102Q +3 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GUncertain significance
Select item 990391	NM_000352.6(ABCC8):c.3329+7G>A	ABCC8	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 990390	NM_000352.6(ABCC8):c.3399+12C>T	ABCC8	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 990388	NM_000352.6(ABCC8):c.3502T>C (p.Leu1168=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 989963	NM_000352.6(ABCC8):c.3651-4C>G	ABCC8	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 989962	NM_000352.6(ABCC8):c.3654T>C (p.Tyr1218=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 989960	NM_000352.6(ABCC8):c.3984C>T (p.Leu1328=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not specified +4 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 989958	NM_000352.6(ABCC8):c.4104C>T (p.Ile1368=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 989957	NM_000352.6(ABCC8):c.4119+10C>T	ABCC8	Single nucleotide variant (intron variant)	ABCC8-related disorder +3 more	GConflicting classifications of pathogenicity

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