NBK1447 AND genereviews[submitter] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21077	NM_000162.5(GCK):c.1190G>T (p.Arg397Leu)	GCK (R397L +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 21076	NM_000162.5(GCK):c.1133C>T (p.Ala378Val)	GCK (A378V +4 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 21075	NM_000162.5(GCK):c.1019+2T>G	GCK	Single nucleotide variant (splice donor variant +1 more)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 21078	NM_000162.5(GCK):c.790G>A (p.Gly264Ser)	GCK (G264S +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 16134	NM_000162.5(GCK):c.683C>T (p.Thr228Met)	GCK (T228M +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 16141	NM_000162.5(GCK):c.629T>A (p.Met210Lys)	GCK (M210K +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 65581	NM_000207.3(INS):c.*59A>G	INS, INS-IGF2	Single nucleotide variant (3 prime UTR variant +1 more)	Permanent neonatal diabetes mellitus	Gnot provided
Select item 21120	NM_000207.3(INS):c.323A>G (p.Tyr108Cys)	INS, INS-IGF2 (Y108C)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4	GLikely risk allele
Select item 13387	NM_000207.3(INS):c.287G>A (p.Cys96Tyr)	INS, INS-IGF2 (C96Y)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4 +2 more	GConflicting classifications of pathogenicity
Select item 21118	NM_000207.3(INS):c.268G>T (p.Gly90Cys)	INS, INS-IGF2 (G90C)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4	GUncertain significance
Select item 21117	NM_000207.3(INS):c.265C>T (p.Arg89Cys)	INS, INS-IGF2 (R89C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 431440	NM_000207.2(INS):c.(?_-191)_(187_?)+1del	INS, INS-IGF2	Deletion	Permanent neonatal diabetes mellitus	Gnot provided
Select item 13389	NM_000207.3(INS):c.143T>G (p.Phe48Cys)	INS-IGF2, INS (F48C)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4 +1 more	GLikely pathogenic/Likely risk allele
Select item 21115	NM_000207.3(INS):c.140G>T (p.Gly47Val)	INS, INS-IGF2 (G47V)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4	GUncertain significance
Select item 21114	NM_000207.3(INS):c.127T>G (p.Cys43Gly)	INS, INS-IGF2 (C43G)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus	GLikely risk allele
Select item 21123	NM_000207.3(INS):c.94G>C (p.Gly32Arg)	INS, INS-IGF2 (G32R)	Single nucleotide variant (missense variant +1 more)	Permanent neonatal diabetes mellitus	Gnot provided
Select item 21122	NM_000207.3(INS):c.94G>A (p.Gly32Ser)	INS, INS-IGF2 (G32S)	Single nucleotide variant (missense variant +1 more)	Permanent neonatal diabetes mellitus +3 more	GPathogenic/Likely pathogenic
Select item 13388	NM_000207.3(INS):c.71C>A (p.Ala24Asp)	INS, INS-IGF2 (A24D)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4 +1 more	GPathogenic/Likely risk allele
Select item 65588	NM_000207.3(INS):c.3G>T (p.Met1Ile)	INS, INS-IGF2 (M1I)	Single nucleotide variant (missense variant +2 more)	Permanent neonatal diabetes mellitus	Gnot provided
Select item 65587	NM_000207.3(INS):c.3G>A (p.Met1Ile)	INS, INS-IGF2 (M1I)	Single nucleotide variant (missense variant +2 more)	Diabetes mellitus, permanent neonatal 4	GUncertain significance
Select item 431444	NM_000207.3(INS):c.-39A>C	INS, INS-IGF2	Single nucleotide variant (5 prime UTR variant +1 more)	Neonatal insulin-dependent diabetes mellitus	GLikely benign
Select item 431443	NM_000207.3(INS):c.-152C>G	INS	Single nucleotide variant	Maturity-onset diabetes of the young type 10 +5 more	GPathogenic
Select item 431442	NC_000011.10:g.2161302G>T	INS	Single nucleotide variant	not provided	GPathogenic/Likely pathogenic
Select item 431441	NM_000207.2(INS):c.-187_-164del	INS	Deletion	Diabetes mellitus, permanent neonatal 4	GUncertain significance
Select item 21193	NM_000525.4(KCNJ11):c.1001G>A (p.Gly334Asp)	KCNJ11 (G334D +1 more)	Single nucleotide variant (missense variant)	Transitory neonatal diabetes mellitus	GBenign
Select item 21205	NM_000525.4(KCNJ11):c.997T>A (p.Phe333Ile)	KCNJ11 (F333I +1 more)	Single nucleotide variant (missense variant)	Neonatal hypoglycemia	GBenign
Select item 21204	NM_000525.4(KCNJ11):c.989A>G (p.Tyr330Cys)	KCNJ11 (Y330C +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GPathogenic/Likely pathogenic
Select item 21203	NM_000525.4(KCNJ11):c.964G>A (p.Glu322Lys)	KCNJ11 (E322K +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus +1 more	GPathogenic
Select item 21202	NM_000525.4(KCNJ11):c.886A>G (p.Ile296Val)	KCNJ11 (I296V +1 more)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus	Gnot provided
Select item 21201	NM_000525.4(KCNJ11):c.886A>C (p.Ile296Leu)	KCNJ11 (I296L +1 more)	Single nucleotide variant (missense variant)	sulfonylureas response	Gdrug response
Select item 21200	NM_000525.4(KCNJ11):c.755T>C (p.Val252Ala)	KCNJ11 (V252A +1 more)	Single nucleotide variant (missense variant)	Transitory neonatal diabetes mellitus +1 more	GConflicting classifications of pathogenicity
Select item 21199	NM_000525.4(KCNJ11):c.602G>T (p.Arg201Leu)	KCNJ11 (R201L +1 more)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus	Gnot provided
Select item 8666	NM_000525.4(KCNJ11):c.602G>A (p.Arg201His)	KCNJ11 (R201H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 8668	NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys)	KCNJ11 (R201C +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus, transient neonatal, 3 +3 more	GPathogenic
Select item 21198	NM_000525.4(KCNJ11):c.544A>G (p.Ile182Val)	KCNJ11 (I182V +1 more)	Single nucleotide variant (missense variant)	Transitory neonatal diabetes mellitus	GBenign
Select item 8672	NM_000525.4(KCNJ11):c.510G>C (p.Lys170Asn)	KCNJ11 (K170N +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 8671	NM_000525.4(KCNJ11):c.509A>G (p.Lys170Arg)	KCNJ11 (K170R +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GLikely risk allele
Select item 8680	NM_000525.4(KCNJ11):c.499A>C (p.Ile167Leu)	KCNJ11 (I167L +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 21197	NM_000525.4(KCNJ11):c.497G>A (p.Cys166Tyr)	KCNJ11 (C166Y +1 more)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus	Gnot provided
Select item 8679	NM_000525.4(KCNJ11):c.497G>T (p.Cys166Phe)	KCNJ11 (C166F +1 more)	Single nucleotide variant (missense variant)	Glibenclamide response	Gdrug response
Select item 8669	NM_000525.4(KCNJ11):c.176T>G (p.Val59Gly)	KCNJ11 (V59G)	Single nucleotide variant (intron variant +1 more)	Transitory neonatal diabetes mellitus	GLikely benign
Select item 8667	NM_000525.4(KCNJ11):c.175G>A (p.Val59Met)	KCNJ11 (V59M)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus +2 more	GPathogenic
Select item 8685	NM_000525.4(KCNJ11):c.158G>A (p.Gly53Asp)	KCNJ11 (G53D)	Single nucleotide variant (missense variant +1 more)	Neonatal hypoglycemia	GBenign
Select item 8682	NM_000525.4(KCNJ11):c.157G>C (p.Gly53Arg)	KCNJ11 (G53R)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, transient neonatal, 3	GPathogenic
Select item 8681	NM_000525.4(KCNJ11):c.157G>A (p.Gly53Ser)	KCNJ11 (G53S)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 21196	NM_000525.4(KCNJ11):c.155A>G (p.Gln52Arg)	KCNJ11 (Q52R)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus	GBenign
Select item 8670	NM_000525.4(KCNJ11):c.149G>C (p.Arg50Pro)	KCNJ11 (R50P)	Single nucleotide variant (missense variant +1 more)	KCNJ11-related disorder	GPathogenic
Select item 8676	NM_000525.4(KCNJ11):c.124T>C (p.Cys42Arg)	KCNJ11 (C42R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 21195	NM_000525.4(KCNJ11):c.103T>G (p.Phe35Val)	KCNJ11 (F35V)	Single nucleotide variant (missense variant +1 more)	Permanent neonatal diabetes mellitus	Gnot provided
Select item 21194	NM_000525.4(KCNJ11):c.103T>C (p.Phe35Leu)	KCNJ11 (F35L)	Single nucleotide variant (missense variant +1 more)	Neonatal hypoglycemia	GBenign
Select item 8678	NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu)	ABCC8, KCNJ11 (K23E)	Single nucleotide variant (missense variant +2 more)	Maturity-onset diabetes of the young type 13 +9 more	GBenign/Likely benign
Select item 9104	NM_000352.6(ABCC8):c.4270A>G (p.Ile1424Val)	ABCC8 (I1424V +3 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 3	GPathogenic
Select item 9109	NM_000352.6(ABCC8):c.3554C>A (p.Ser1185Tyr)	ABCC8 (S1185Y +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +1 more	GUncertain significance
Select item 9108	NM_000352.6(ABCC8):c.1144G>A (p.Glu382Lys)	ABCC8 (E382K +1 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 3	GPathogenic
Select item 21170	NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro)	ABCC8 (L225P)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus	GLikely pathogenic
Select item 9103	NM_000352.6(ABCC8):c.638T>G (p.Leu213Arg)	ABCC8 (L213R)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 3	GPathogenic
Select item 21169	NM_000352.6(ABCC8):c.631C>A (p.Gln211Lys)	ABCC8 (Q211K)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 21168	NM_000352.6(ABCC8):c.627C>A (p.Asp209Glu)	ABCC8 (D209E)	Single nucleotide variant (missense variant +1 more)	Permanent neonatal diabetes mellitus	Gnot provided
Select item 21167	NM_000352.6(ABCC8):c.404T>C (p.Leu135Pro)	ABCC8 (L135P)	Single nucleotide variant (missense variant +1 more)	Permanent neonatal diabetes mellitus	Gnot provided
Select item 21166	NM_000352.6(ABCC8):c.394T>G (p.Phe132Val)	ABCC8 (F132V)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus +1 more	Gnot provided
Select item 9102	NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu)	ABCC8 (F132L)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus +1 more	GPathogenic/Likely pathogenic
Select item 21165	NM_000352.6(ABCC8):c.257T>C (p.Val86Ala)	ABCC8 (V86A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 9111	NM_000352.6(ABCC8):c.257T>G (p.Val86Gly)	ABCC8 (V86G)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 3	GPathogenic
Select item 9107	NM_000352.6(ABCC8):c.215A>G (p.Asn72Ser)	ABCC8 (N72S)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 21124	NM_000209.4(PDX1):c.188del (p.Pro63fs)	PDX1 (P63fs)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 4 +4 more	GConflicting classifications of pathogenicity
Select item 8864	NM_000209.4(PDX1):c.492G>T (p.Glu164Asp)	PDX1 (E164D)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +1 more	GPathogenic; risk factor
Select item 8865	NM_000209.4(PDX1):c.532G>A (p.Glu178Lys)	PDX1 (E178K)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1	GPathogenic
Select item 30124	NM_000209.4(PDX1):c.533A>G (p.Glu178Gly)	PDX1 (E178G)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +1 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 68