ClinVar (all) for Orgtrack (Select 505867) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 617653	NM_175914.5(HNF4A):c.265C>T (p.Gln89Ter)	HNF4A (Q111* +3 more)	Single nucleotide variant (nonsense)	Maturity onset diabetes mellitus in young +1 more	GPathogenic
Select item 617652	NM_175914.5(HNF4A):c.582+1G>A	HNF4A	Single nucleotide variant (splice donor variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 617651	NM_000525.4(KCNJ11):c.697C>T (p.Leu233Phe)	KCNJ11 (L233F +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 13	GLikely pathogenic
Select item 617650	NM_000545.8(HNF1A):c.1330_1331del (p.Gln444fs)	HNF1A (Q444fs)	Microsatellite (frameshift variant)	Maturity onset diabetes mellitus in young +2 more	GPathogenic/Likely risk allele
Select item 617649	NM_175914.5(HNF4A):c.201del (p.Lys68fs)	HNF4A (K68fs +3 more)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 1 +1 more	GLikely pathogenic/Likely risk allele
Select item 617648	NM_000207.3(INS):c.290C>G (p.Thr97Ser)	INS, INS-IGF2 (T97S)	Single nucleotide variant (missense variant +1 more)	Neonatal insulin-dependent diabetes mellitus +1 more	GConflicting classifications of pathogenicity
Select item 617647	NM_000162.5(GCK):c.718A>G (p.Asn240Asp)	GCK (N240D +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2 +1 more	GConflicting classifications of pathogenicity
Select item 617646	NM_000545.8(HNF1A):c.956-1G>C	HNF1A	Single nucleotide variant (splice acceptor variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 617645	NM_000162.5(GCK):c.1113C>A (p.Cys371Ter)	GCK (C371* +4 more)	Single nucleotide variant (nonsense +1 more)	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)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 562356	NM_005912.3(MC4R):c.466C>T (p.Gln156Ter)	MC4R (Q156*)	Single nucleotide variant (nonsense)	Monogenic diabetes +3 more	GPathogenic/Likely pathogenic
Select item 426122	NM_000162.5(GCK):c.571C>T (p.Arg191Trp)	GCK (R191W +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 420070	NM_000162.5(GCK):c.113A>C (p.Gln38Pro)	GCK (Q38P +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 419624	NM_000162.5(GCK):c.184G>A (p.Val62Met)	GCK (V62M +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 393456	NM_000545.8(HNF1A):c.694dup (p.Leu232fs)	HNF1A (L232fs)	Duplication (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 393455	NM_000207.3(INS):c.278A>G (p.Glu93Gly)	INS, INS-IGF2 (E93G)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 10 +1 more	GConflicting classifications of pathogenicity
Select item 393454	NM_000162.5(GCK):c.122T>C (p.Met41Thr)	GCK (M41T +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +1 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 393452	NM_000162.5(GCK):c.680-1G>A	GCK	Single nucleotide variant (splice acceptor variant)	Maturity-onset diabetes of the young type 2 +3 more	GPathogenic/Likely pathogenic
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 393450	NM_000162.5(GCK):c.1016A>G (p.Glu339Gly)	GCK (E339G +2 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 393449	NM_000162.5(GCK):c.1253+2T>A	GCK	Single nucleotide variant (splice donor variant)	Monogenic diabetes +1 more	GPathogenic
Select item 393448	NM_000162.5(GCK):c.1344del (p.Ala449fs)	GCK (A112fs +5 more)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 393447	NM_000162.5(GCK):c.1361C>A (p.Ala454Glu)	GCK (A454E +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 67096	NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met)	KCNQ1 (T224M +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GPathogenic/Likely pathogenic
Select item 66762	NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)	LMNA (R349W +2 more)	Single nucleotide variant (missense variant)	Familial partial lipodystrophy, Dunnigan type +14 more	GConflicting classifications of pathogenicity
Select item 36258	NM_000162.5(GCK):c.787T>C (p.Ser263Pro)	GCK (S263P +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2 +3 more	GPathogenic/Likely pathogenic
Select item 14931	NM_000545.8(HNF1A):c.815G>A (p.Arg272His)	HNF1A (R272H)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 14486	NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)	LMNA (R482Q +2 more)	Single nucleotide variant (missense variant)	not provided +15 more	GPathogenic

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Items: 29