ClinVar (all) for Orgtrack (Select 507453) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 918071	NM_000545.8(HNF1A):c.56C>T (p.Ser19Leu)	HNF1A (S19L)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 918070	NM_000162.5(GCK):c.772G>A (p.Gly258Ser)	GCK (G257S +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 918069	NM_006005.3(WFS1):c.2015T>C (p.Leu672Pro)	WFS1 (L672P)	Single nucleotide variant (missense variant)	Diabetes mellitus	GPathogenic
Select item 918068	NM_006005.3(WFS1):c.2082G>C (p.Glu694Asp)	WFS1 (E694D)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +1 more	GUncertain significance/Uncertain risk allele
Select item 918067	NM_000207.3(INS):c.286T>C (p.Cys96Arg)	INS, INS-IGF2 (C96R)	Single nucleotide variant (missense variant +1 more)	Type 1 diabetes mellitus 2	GLikely risk allele
Select item 918066	NM_006005.3(WFS1):c.817G>T (p.Glu273Ter)	WFS1 (E273*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic
Select item 918065	NM_000545.8(HNF1A):c.824A>T (p.Glu275Val)	HNF1A (E275V)	Single nucleotide variant (missense variant)	Diabetes mellitus	GPathogenic
Select item 918064	NM_006005.3(WFS1):c.961A>C (p.Thr321Pro)	WFS1 (T321P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 918063	NM_006005.3(WFS1):c.1514G>A (p.Cys505Tyr)	WFS1 (C505Y)	Single nucleotide variant (missense variant)	Diabetes mellitus	GPathogenic
Select item 918062	NM_000545.8(HNF1A):c.639C>G (p.Ile213Met)	HNF1A (I213M)	Single nucleotide variant (missense variant)	Diabetes mellitus	GLikely pathogenic
Select item 918061	NM_000545.8(HNF1A):c.404A>C (p.Asp135Ala)	HNF1A (D135A)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 916729	NM_000207.3(INS):c.174del (p.Glu59fs)	INS, INS-IGF2 (E59fs)	Deletion (frameshift variant +1 more)	Neonatal insulin-dependent diabetes mellitus	GLikely pathogenic
Select item 916728	NM_006005.3(WFS1):c.1362_1377del (p.Pro453_Tyr454insTer)	WFS1	Deletion (nonsense)	Wolfram syndrome 1 +1 more	GPathogenic
Select item 916727	NM_000545.8(HNF1A):c.1310-1G>A	HNF1A	Single nucleotide variant (splice acceptor variant +1 more)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 916726	NM_000545.8(HNF1A):c.1139del (p.Val380fs)	HNF1A (V380fs)	Deletion (frameshift variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 449403	NM_000545.8(HNF1A):c.812G>A (p.Arg271Gln)	HNF1A (R271Q)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 429750	NM_000545.8(HNF1A):c.475C>T (p.Arg159Trp)	HNF1A (R159W)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 381588	NM_000545.8(HNF1A):c.599G>A (p.Arg200Gln)	HNF1A (R200Q)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 349320	NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter)	WFS1 (W613*)	Single nucleotide variant (nonsense)	Wolfram syndrome 1 +6 more	GPathogenic
Select item 330636	NM_003597.5(KLF11):c.1077G>A (p.Met359Ile)	KLF11 (M359I +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 7 +1 more	GUncertain significance
Select item 215394	NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)	WFS1 (G674R)	Single nucleotide variant (missense variant)	WFS1-Related Spectrum Disorders +7 more	GConflicting classifications of pathogenicity
Select item 198835	NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)	WFS1 (R558C)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 158682	NM_000525.4(KCNJ11):c.679G>A (p.Glu227Lys)	KCNJ11 (E227K +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 132142	NM_001379610.1(SPINK1):c.194+2T>C	SPINK1	Single nucleotide variant (splice donor variant)	Hereditary pancreatitis +4 more	GConflicting classifications of pathogenicity
Select item 497	NM_173560.4(RFX6):c.224-12A>G	RFX6	Single nucleotide variant (intron variant)	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome +1 more	GPathogenic

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Items: 25