ClinVar (all) for Orgtrack (Select 508223) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220879	NM_003242.6(TGFBR2):c.389G>A (p.Gly130Asp)	TGFBR2 (G130D +3 more)	Single nucleotide variant (missense variant +1 more)	Diabetic retinopathy	GLikely benign
Select item 3220878	NM_003242.6(TGFBR2):c.325C>A (p.His109Asn)	TGFBR2 (H109N +3 more)	Single nucleotide variant (missense variant +1 more)	Diabetic retinopathy	GUncertain risk allele
Select item 3220877	NM_003242.6(TGFBR2):c.-195G>C	LOC129936399, TGFBR2	Single nucleotide variant (5 prime UTR variant +1 more)	Diabetic retinopathy	GUncertain risk allele
Select item 3220876	NM_003242.6(TGFBR2):c.261A>C (p.Val87=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Diabetic retinopathy	GLikely benign
Select item 3220875	NM_003242.5(TGFBR2):c.-344C>T	TGFBR2	Single nucleotide variant (5 prime UTR variant)	Diabetic retinopathy	GUncertain risk allele
Select item 3220874	NM_003242.6(TGFBR2):c.-26G>T	TGFBR2	Single nucleotide variant (5 prime UTR variant +1 more)	Diabetic retinopathy	GUncertain risk allele
Select item 3075181	NM_003242.6(TGFBR2):c.310C>A (p.Pro104Thr)	TGFBR2 (P104T +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance/Uncertain risk allele
Select item 3024553	NM_000458.4(HNF1B):c.*100del	HNF1B	Deletion (3 prime UTR variant)	Type 2 diabetes mellitus	GUncertain significance
Select item 2920260	NM_003242.6(TGFBR2):c.202A>G (p.Met68Val)	TGFBR2 (M33V +3 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 2664354	NM_000207.3(INS):c.104T>A (p.Leu35Gln)	INS, INS-IGF2 (L35Q)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4	GLikely risk allele
Select item 2507416	NM_000797.4(DRD4):c.850A>G (p.Ser284Gly)	DRD4 (S284G)	Single nucleotide variant (missense variant)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 2507415	NM_000797.4(DRD4):c.816T>C (p.Gly272=)	DRD4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2507414	NM_000797.4(DRD4):c.815G>A (p.Gly272Asp)	DRD4 (G272D)	Single nucleotide variant (missense variant)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 2507413	NM_000797.4(DRD4):c.812G>A (p.Arg271Gln)	DRD4 (R271Q)	Single nucleotide variant (missense variant)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 2507412	NM_000797.4(DRD4):c.807T>C (p.Leu269=)	DRD4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2507411	NM_001144888.2(BAIAP2):c.1535+553G>A	BAIAP2	Single nucleotide variant (intron variant +2 more)	Attention deficit hyperactivity disorder	GUncertain significance
Select item 2507410	NM_001144888.2(BAIAP2):c.54+45T>C	BAIAP2	Single nucleotide variant (intron variant)	Attention deficit hyperactivity disorder	GUncertain significance
Select item 2507409	NM_001144888.2(BAIAP2):c.1535+1763T>G	BAIAP2	Single nucleotide variant (3 prime UTR variant +2 more)	Attention deficit hyperactivity disorder	GUncertain significance
Select item 2507408	NM_001144888.2(BAIAP2):c.490-1717A>G	BAIAP2	Single nucleotide variant (intron variant)	Attention deficit hyperactivity disorder	GUncertain significance
Select item 2507407	NM_000798.5(DRD5):c.978C>T (p.Pro326=)	DRD5, SLC2A9	Single nucleotide variant (synonymous variant)	Schizophrenia +1 more	GUncertain significance
Select item 2507406	NM_000797.4(DRD4):c.1058-32G>C	DRD4	Single nucleotide variant (intron variant)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 2507405	NM_000797.4(DRD4):c.933T>G (p.Ala311=)	DRD4	Single nucleotide variant (synonymous variant)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 2507404	NM_000797.4(DRD4):c.-11C>T	DRD4	Single nucleotide variant (5 prime UTR variant)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 2504120	NM_005327.7(HADH):c.660_661del	HADH	Deletion (3 prime UTR variant)	Hyperinsulinemic hypoglycemia, familial, 4	GLikely benign
Select item 2499170	NM_005327.7(HADH):c.710-822C>T	HADH (S246L)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia	GLikely pathogenic
Select item 2498224	NM_005327.4(HADH):c.-195A>T	HADH, LOC129992931	Single nucleotide variant	Hyperinsulinemic hypoglycemia	GLikely benign
Select item 2498223	NM_005327.4(HADH):c.-193G>T	HADH, LOC129992931	Single nucleotide variant	Hyperinsulinemic hypoglycemia	GLikely benign
Select item 2442326	NM_175914.5(HNF4A):c.50-4560G>T	HNF4A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 2442319	NM_175914.5(HNF4A):c.*2761G>T	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 2442318	NM_175914.5(HNF4A):c.2698_2703dup	HNF4A	Duplication (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 2442317	NM_175914.5(HNF4A):c.2678_2679insTT	HNF4A	Insertion (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 2442313	NM_006005.3(WFS1):c.2570C>T (p.Thr857Ile)	WFS1 (T857I)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GUncertain significance
Select item 2442292	NC_000004.12:g.6304102C>A	WFS1	Single nucleotide variant	Wolfram syndrome 1	GBenign
Select item 2442291	NM_006005.3(WFS1):c.2484C>A (p.Ile828=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +1 more	GLikely benign
Select item 2442258	NM_006005.3(WFS1):c.2350A>C (p.Ser784Arg)	WFS1 (S784R)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GLikely benign
Select item 2442243	NM_006005.3(WFS1):c.2337G>A (p.Val779=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1	GBenign
Select item 2442242	NM_006005.3(WFS1):c.2459G>T (p.Gly820Val)	WFS1 (G820V)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GLikely risk allele
Select item 2442241	NM_006005.3(WFS1):c.2455C>G (p.Gln819Glu)	WFS1 (Q819E)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GLikely risk allele
Select item 2430204	NM_006005.3(WFS1):c.1947C>G (p.Phe649Leu)	WFS1 (F649L)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GUncertain significance
Select item 2429743	NM_006005.3(WFS1):c.2061G>T (p.Gln687His)	WFS1 (Q687H)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GLikely risk allele
Select item 2429740	NM_006005.3(WFS1):c.1836G>C (p.Trp612Cys)	WFS1 (W612C)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GUncertain risk allele
Select item 2429739	NM_006005.3(WFS1):c.2030C>G (p.Ala677Gly)	WFS1 (A677G)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GUncertain risk allele
Select item 2429731	NM_006005.3(WFS1):c.*553G>C	WFS1	Single nucleotide variant (3 prime UTR variant)	Wolfram syndrome 1	GBenign
Select item 2429730	NM_006005.3(WFS1):c.*683delinsTGTGGGGGA	WFS1	Indel (3 prime UTR variant)	Wolfram syndrome 1	GUncertain significance
Select item 2429477	NM_006005.3(WFS1):c.1653C>T (p.Ser551=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2429475	NM_006005.3(WFS1):c.2001G>A (p.Gln667=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1	GBenign
Select item 2429350	NM_006005.3(WFS1):c.1362C>G (p.Tyr454Ter)	WFS1 (Y454*)	Single nucleotide variant (nonsense)	Wolfram syndrome 1	GPathogenic
Select item 2346772	NM_000797.4(DRD4):c.925A>G (p.Asn309Asp)	DRD4 (N309D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2346771	NM_000797.4(DRD4):c.922T>C (p.Ser308Pro)	DRD4 (S308P)	Single nucleotide variant (missense variant)	Hereditary attention deficit-hyperactivity disorder +1 more	GUncertain significance
Select item 2182662	NM_006005.3(WFS1):c.2638G>A (p.Asp880Asn)	WFS1 (D880N)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +1 more	GUncertain significance
Select item 1810380	NM_006005.3(WFS1):c.1194C>T (p.Gly398=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1	GBenign
Select item 1810364	NM_006005.3(WFS1):c.1192G>A (p.Gly398Ser)	WFS1 (G398S)	Single nucleotide variant (missense variant)	WFS1-related disorder +2 more	GUncertain significance/Uncertain risk allele
Select item 1810363	NM_006005.3(WFS1):c.1020C>T (p.Phe340=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1	GBenign
Select item 1810362	NM_006005.3(WFS1):c.837T>G (p.Pro279=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1	GBenign
Select item 1810361	NM_006005.3(WFS1):c.884C>G (p.Ala295Gly)	WFS1 (A295G)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GLikely benign
Select item 1810360	NM_006005.3(WFS1):c.873C>T (p.Tyr291=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1810359	NM_006005.3(WFS1):c.713-1317A>T	WFS1	Single nucleotide variant (intron variant)	Wolfram syndrome 1	GBenign
Select item 1810357	NM_006005.3(WFS1):c.1099G>T (p.Asp367Tyr)	WFS1 (D367Y)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1810353	NM_006005.3(WFS1):c.968A>T (p.His323Leu)	WFS1 (H323L)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GUncertain risk allele
Select item 1810335	NM_006005.3(WFS1):c.615C>T (p.Gly205=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1810334	NM_006005.3(WFS1):c.461-169_461-168insAGGAGCATG	WFS1	Insertion (intron variant)	Wolfram syndrome 1	GLikely benign
Select item 1810333	NM_006005.3(WFS1):c.316-14T>G	WFS1	Single nucleotide variant (intron variant)	Wolfram syndrome 1	GBenign
Select item 1810332	NM_006005.3(WFS1):c.361C>A (p.Leu121Ile)	WFS1 (L121I)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +1 more	GUncertain significance
Select item 1810331	NM_006005.3(WFS1):c.115G>T (p.Glu39Ter)	WFS1 (E39*)	Single nucleotide variant (nonsense)	Wolfram syndrome 1	GLikely pathogenic
Select item 1810330	NM_006005.3(WFS1):c.81C>G (p.Leu27=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1	GBenign
Select item 1802674	NM_006005.3(WFS1):c.-100C>T	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	Wolfram syndrome 1	GBenign
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 1802671	NM_006005.3(WFS1):c.-55C>T	WFS1	Single nucleotide variant (5 prime UTR variant)	Wolfram syndrome 1	GBenign
Select item 1802670	NM_000458.4(HNF1B):c.298A>T (p.Thr100Ser)	HNF1B (T100S)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain risk allele
Select item 1802669	NM_000458.4(HNF1B):c.983C>G (p.Pro328Arg)	HNF1B (P302R +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain risk allele
Select item 1802668	NM_000458.4(HNF1B):c.1505C>A (p.Ala502Glu)	HNF1B (A476E +1 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 1802667	NM_000458.4(HNF1B):c.325G>C (p.Glu109Gln)	HNF1B (E109Q)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain risk allele
Select item 1802666	NM_000458.4(HNF1B):c.972C>A (p.His324Gln)	HNF1B (H298Q +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain risk allele
Select item 1802665	NM_000458.4(HNF1B):c.1045+330G>T	HNF1B	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 1802664	NM_000162.5(GCK):c.137G>A (p.Arg46Lys)	GCK (R45K +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 1802534	NM_000458.4(HNF1B):c.1116C>T (p.Ser372=)	HNF1B	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 1802533	NM_000458.4(HNF1B):c.738G>A (p.Leu246=)	HNF1B, LOC126862549	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 1802530	NM_000545.8(HNF1A):c.866C>T (p.Pro289Leu)	HNF1A (P289L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1802529	NM_000458.4(HNF1B):c.58G>C (p.Gly20Arg)	HNF1B (G20R)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GLikely risk allele
Select item 1802528	NM_000458.4(HNF1B):c.545-73TCTG[3]	HNF1B, LOC126862549	Microsatellite (intron variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 1802527	NM_000458.4(HNF1B):c.516C>T (p.Tyr172=)	HNF1B	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 1802526	NM_000458.4(HNF1B):c.1340-3C>T	HNF1B	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GUncertain risk allele
Select item 1802525	NM_000545.8(HNF1A):c.160C>G (p.Arg54Gly)	HNF1A (R54G)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GPathogenic
Select item 1802524	NM_000545.8(HNF1A):c.598C>A (p.Arg200=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely risk allele
Select item 1802164	NM_000458.4(HNF1B):c.*409A>C	HNF1B	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 1802163	NM_000458.4(HNF1B):c.544+7G>A	HNF1B	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 1802162	NM_000458.4(HNF1B):c.221T>G (p.Leu74Trp)	HNF1B (L74W)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GPathogenic
Select item 1801853	NM_000162.5(GCK):c.98T>G (p.Val33Gly)	GCK (V32G +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GLikely risk allele
Select item 1801852	NM_000162.5(GCK):c.57C>A (p.Ile19=)	GCK	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 1801851	NM_000207.3(INS):c.153A>C (p.Thr51=)	INS, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1801850	NM_000207.3(INS):c.155C>G (p.Pro52Arg)	INS, INS-IGF2 (P52R)	Single nucleotide variant (missense variant +1 more)	Neonatal insulin-dependent diabetes mellitus	GLikely pathogenic
Select item 1801849	NM_000162.5(GCK):c.183C>T (p.Tyr61=)	GCK	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GBenign/Likely benign
Select item 1801848	NM_000207.3(INS):c.187+15C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	Neonatal insulin-dependent diabetes mellitus	GBenign
Select item 1801846	NM_000209.4(PDX1):c.800C>T (p.Ala267Val)	PDX1 (A267V)	Single nucleotide variant (missense variant)	Pancreatic hypoplasia	GUncertain significance
Select item 1801845	NM_000458.4(HNF1B):c.636G>C (p.Gln212His)	HNF1B, LOC126862549 (Q186H +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 1801844	NM_000458.4(HNF1B):c.703C>A (p.Arg235=)	HNF1B, LOC126862549	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 1801843	NM_000458.4(HNF1B):c.755G>A (p.Arg252Gln)	HNF1B, LOC126862549 (R226Q +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 1801839	NM_000209.4(PDX1):c.395G>A (p.Gly132Asp)	PDX1 (G132D)	Single nucleotide variant (missense variant)	Pancreatic hypoplasia	GUncertain risk allele
Select item 1801838	NM_000209.4(PDX1):c.274C>T (p.Leu92Phe)	PDX1 (L92F)	Single nucleotide variant (missense variant)	Pancreatic hypoplasia	GUncertain risk allele

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