C0342276[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36202	NM_000162.5(GCK):c.1386G>T (p.Met462Ile)	GCK (M462I +4 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GLikely benign FDA Recognized database
Select item 36188	NM_000162.5(GCK):c.1240A>G (p.Lys414Glu)	GCK (K414E +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 36187	NM_000162.5(GCK):c.1207C>G (p.Arg403Gly)	GCK (R403G +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 802308	NM_000162.5(GCK):c.836A>G (p.Glu279Gly)	GCK (E278G +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +5 more	GConflicting classifications of pathogenicity
Select item 972775	NM_000162.5(GCK):c.773G>A (p.Gly258Asp)	GCK (G259D +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 393451	NM_000162.5(GCK):c.748C>T (p.Arg250Cys)	GCK (R250C +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 972805	NM_000162.5(GCK):c.709G>A (p.Glu237Lys)	GCK (E236K +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance/Uncertain risk allele
Select item 447413	NM_000162.5(GCK):c.682A>G (p.Thr228Ala)	GCK (T228A +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 804849	NM_000162.5(GCK):c.562G>A (p.Ala188Thr)	GCK (A187T +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2 +2 more	GPathogenic
Select item 129144	NM_000162.5(GCK):c.544G>A (p.Val182Met)	GCK (V182M +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +5 more	GPathogenic
Select item 211073	NM_000162.5(GCK):c.370G>A (p.Asp124Asn)	GCK (D124N +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 972812	NM_000162.5(GCK):c.316C>T (p.Gln106Ter)	GCK (Q107* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 36209	NM_000162.5(GCK):c.214G>A (p.Gly72Arg)	GCK (G72R +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 972808	NM_000162.5(GCK):c.207A>G (p.Ser69=)	GCK	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 393453	NM_000162.5(GCK):c.128G>A (p.Arg43His)	GCK (R43H +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 972809	NM_000162.5(GCK):c.107G>A (p.Arg36Gln)	GCK (R35Q +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2 +5 more	GUncertain significance/Uncertain risk allele
Select item 551208	NM_000352.6(ABCC8):c.4322del (p.Pro1441fs)	ABCC8 (P1440fs +3 more)	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 280114	NM_000352.6(ABCC8):c.4308-2A>G	ABCC8	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 446776	NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His)	ABCC8 (R1393H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 196880	NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)	ABCC8 (F1388del +3 more)	Deletion (inframe_deletion +1 more)	ABCC8-related disorder +4 more	GPathogenic
Select item 585346	NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His)	ABCC8 (R1379H +3 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +3 more	GPathogenic/Likely pathogenic
Select item 552652	NM_000352.6(ABCC8):c.3868-1G>A	ABCC8	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 35609	NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)	ABCC8 (V1173M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GUncertain significance
Select item 585343	NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter)	ABCC8 (W1036* +3 more)	Single nucleotide variant (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GPathogenic
Select item 643339	NM_000352.6(ABCC8):c.2921-1G>A	ABCC8	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 996301	NM_000352.6(ABCC8):c.2521C>T (p.Arg841Ter)	ABCC8 (R840* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
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 189078	NM_000352.6(ABCC8):c.2116+2T>C	ABCC8	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 217848	NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup)	ABCC8	Duplication (inframe_insertion +1 more)	Type 2 diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 9091	NM_000352.6(ABCC8):c.1672-20A>G	ABCC8	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +5 more	GConflicting classifications of pathogenicity
Select item 446765	NM_000352.6(ABCC8):c.1634del (p.Phe545fs)	ABCC8 (F544fs +1 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +4 more	GPathogenic
Select item 555287	NM_000352.6(ABCC8):c.579+2T>A	ABCC8	Single nucleotide variant (splice donor variant)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 557284	NM_000352.6(ABCC8):c.524T>A (p.Leu175Gln)	ABCC8 (L175Q)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +3 more	GUncertain significance
Select item 435422	NM_000545.8(HNF1A):c.29C>T (p.Thr10Met)	HNF1A (T10M)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 972749	NM_000545.8(HNF1A):c.50T>A (p.Leu17His)	HNF1A (L17H)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 882461	NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg)	HNF1A (G47R)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 972770	NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys)	HNF1A (R114C)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 972751	NM_000545.8(HNF1A):c.343G>T (p.Val115Leu)	HNF1A (V115L)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 562373	NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln)	HNF1A (R131Q)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 372380	NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter)	HNF1A (Q176*)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 972755	NM_000545.8(HNF1A):c.703G>C (p.Glu235Gln)	HNF1A (E235Q)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +1 more	GConflicting classifications of pathogenicity
Select item 972754	NM_000545.8(HNF1A):c.748C>T (p.Gln250Ter)	HNF1A (Q250*)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 265436	NM_000545.8(HNF1A):c.779C>T (p.Thr260Met)	HNF1A (T260M)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 972752	NM_000545.8(HNF1A):c.862G>T (p.Gly288Trp)	HNF1A (G288W)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +2 more	GConflicting classifications of pathogenicity
Select item 14927	NM_000545.8(HNF1A):c.872dup (p.Gly292fs)	HNF1A (G292fs)	Duplication (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 972763	NM_000545.8(HNF1A):c.962G>A (p.Arg321His)	HNF1A (R321H)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +6 more	GConflicting classifications of pathogenicity
Select item 972811	NM_000545.8(HNF1A):c.1061C>T (p.Thr354Met)	HNF1A (T354M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 972818	NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr)	HNF1A (P379T)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 431970	NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)	HNF1A (P379A)	Single nucleotide variant (missense variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 617650	NM_000545.8(HNF1A):c.1330_1331del (p.Gln444fs)	HNF1A (Q444fs)	Microsatellite (frameshift variant)	Maturity-onset diabetes of the young type 3 +2 more	GPathogenic/Likely risk allele
Select item 972766	NM_000545.8(HNF1A):c.1396C>T (p.Gln466Ter)	HNF1A (Q466*)	Single nucleotide variant (nonsense)	Maturity-onset diabetes of the young type 3 +1 more	GPathogenic
Select item 36801	NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu)	HNF1A (P475L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 972768	NM_000545.8(HNF1A):c.1498C>A (p.His500Asn)	HNF1A (H500N)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +1 more	GUncertain significance/Uncertain risk allele
Select item 972780	NM_000545.8(HNF1A):c.1501G>A (p.Ala501Thr)	HNF1A (A501T)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 972783	NM_000545.8(HNF1A):c.1502-6G>A	HNF1A	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 972769	NM_000545.8(HNF1A):c.1583C>T (p.Thr528Ile)	HNF1A (T528I)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +1 more	GUncertain significance/Uncertain risk allele
Select item 36808	NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe)	HNF1A (L555F +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely benign FDA Recognized database
Select item 972764	NM_000545.8(HNF1A):c.1855G>A (p.Glu619Lys)	C12orf43, HNF1A (E619K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 3 +2 more	GConflicting classifications of pathogenicity
Select item 36414	NM_000209.4(PDX1):c.97C>A (p.Pro33Thr)	PDX1 (P33T)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 4 +5 more	GConflicting classifications of pathogenicity
Select item 21124	NM_000209.4(PDX1):c.188del (p.Pro63fs)	PDX1 (P63fs)	Deletion (frameshift variant)	Pancreatic agenesis 1 +4 more	GConflicting classifications of pathogenicity
Select item 8859	NM_000209.4(PDX1):c.226G>A (p.Asp76Asn)	PDX1 (D76N)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +5 more	GConflicting classifications of pathogenicity
Select item 8863	NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)	PDX1 (E224K)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +5 more	GConflicting classifications of pathogenicity
Select item 813922	NM_000458.4(HNF1B):c.1258dup (p.His420fs)	HNF1B (H394fs +1 more)	Duplication (frameshift variant)	Maturity onset diabetes mellitus in young +1 more	GPathogenic/Likely pathogenic
Select item 635666	NM_000458.4(HNF1B):c.662A>T (p.Asp221Val)	HNF1B, LOC126862549 (D221V +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +2 more	GConflicting classifications of pathogenicity
Select item 972750	NM_000458.4(HNF1B):c.660T>C (p.Asp220=)	HNF1B, LOC126862549	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +6 more	GConflicting classifications of pathogenicity
Select item 635678	NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)	HNF1B (V173I)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 972777	NM_000458.4(HNF1B):c.345-11T>G	HNF1B	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GUncertain significance/Uncertain risk allele
Select item 972748	NM_000458.4(HNF1B):c.202G>C (p.Gly68Arg)	HNF1B (G68R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 635731	NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)	HNF1B (S36F)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 623896	NM_000458.4(HNF1B):c.100C>T (p.Leu34=)	HNF1B	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 36349	NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly)	HNF4A (S121G +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely benign FDA Recognized database
Select item 972784	NM_175914.5(HNF4A):c.422G>A (p.Arg141Gln)	HNF4A (R138Q +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 447517	NM_175914.5(HNF4A):c.427-4G>A	HNF4A	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 36353	NM_175914.5(HNF4A):c.439G>A (p.Val147Ile)	HNF4A (V147I +3 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 36360	NM_175914.5(HNF4A):c.768G>C (p.Glu256Asp)	HNF4A (E256D +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 633668	NM_175914.5(HNF4A):c.791A>G (p.Tyr264Cys)	HNF4A (Y261C +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1 +3 more	GConflicting classifications of pathogenicity
Select item 804918	NM_175914.5(HNF4A):c.869G>A (p.Arg290His)	HNF4A (R312H +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 36364	NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys)	HNF4A (R309C +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 586023	NM_175914.5(HNF4A):c.932G>A (p.Arg311His)	HNF4A (R308H +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 79