ClinVar (all) for Orgtrack (Select 506115) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2575904	NM_018161.5(NADSYN1):c.1088C>T (p.Ala363Val)	NADSYN1 (A363V)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 3	GLikely pathogenic
Select item 2575903	NM_018161.5(NADSYN1):c.1759G>A (p.Asp587Asn)	NADSYN1 (D587N)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 3	GLikely pathogenic
Select item 2442205	NM_018161.5(NADSYN1):c.1765-7T>A	NADSYN1	Single nucleotide variant (intron variant)	Vertebral, cardiac, renal, and limb defects syndrome 3	GConflicting classifications of pathogenicity
Select item 2342520	NM_018161.5(NADSYN1):c.379C>T (p.Arg127Cys)	NADSYN1 (R127C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1699308	NM_018161.5(NADSYN1):c.524G>A (p.Cys175Tyr)	NADSYN1 (C175Y)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 3	GPathogenic/Likely pathogenic
Select item 1309754	NM_018161.5(NADSYN1):c.271del (p.Met91fs)	NADSYN1 (M91fs)	Deletion (frameshift variant)	Vertebral, cardiac, renal, and limb defects syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 998169	NM_018161.5(NADSYN1):c.1459C>T (p.Arg487Ter)	NADSYN1 (R487*)	Single nucleotide variant (nonsense)	Vertebral, cardiac, renal, and limb defects syndrome 3	GPathogenic/Likely pathogenic
Select item 988093	NM_003937.3(KYNU):c.489del (p.Ala164fs)	KYNU (A164fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 988092	NM_003937.3(KYNU):c.1035T>A (p.Ser345Arg)	KYNU (S345R)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 988091	NM_003937.3(KYNU):c.361_363del (p.Lys121del)	KYNU (K121del)	Deletion (inframe_deletion)	Vertebral, cardiac, renal, and limb defects syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 988090	NM_003937.3(KYNU):c.616G>A (p.Glu206Lys)	KYNU (E206K)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 988089	NM_003937.3(KYNU):c.788A>G (p.His263Arg)	KYNU (H263R)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 2 +1 more	GPathogenic
Select item 988088	NM_012205.3(HAAO):c.323G>A (p.Arg108Gln)	HAAO (R108Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 988087	NM_012205.3(HAAO):c.301G>T (p.Gly101Trp)	HAAO (G101W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 988086	NM_012205.3(HAAO):c.43del (p.Arg15fs)	HAAO, LOC129933588 (R15fs)	Deletion (frameshift variant)	Congenital NAD deficiency disorder +1 more	GPathogenic
Select item 988085	NM_012205.3(HAAO):c.141C>A (p.His47Gln)	HAAO (H47Q)	Single nucleotide variant (missense variant)	Congenital NAD deficiency disorder +1 more	GPathogenic
Select item 988084	NM_012205.3(HAAO):c.128G>A (p.Arg43Lys)	HAAO (R43K)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 978268	NM_003937.3(KYNU):c.1282C>T (p.Arg428Trp)	KYNU (R428W)	Single nucleotide variant (missense variant)	Catel-Manzke syndrome +1 more	GPathogenic/Likely pathogenic
Select item 917487	NM_016312.3(WBP11):c.169A>G (p.Met57Val)	WBP11, C12orf60 (M57V)	Single nucleotide variant (missense variant)	WBP11 spliceosomopathy	GUncertain significance
Select item 917486	NM_016312.3(WBP11):c.612del (p.Gly205fs)	WBP11, C12orf60 (G205fs)	Deletion (frameshift variant)	Vertebral, cardiac, tracheoesophageal, renal, and limb defects +1 more	GLikely pathogenic
Select item 917485	NM_016312.3(WBP11):c.688C>T (p.Arg230Ter)	WBP11 (R230*)	Single nucleotide variant (nonsense)	WBP11 spliceosomopathy	GPathogenic
Select item 917484	NM_016312.3(WBP11):c.1559dup (p.Gly521fs)	WBP11 (G521fs)	Duplication (frameshift variant)	Vertebral, cardiac, tracheoesophageal, renal, and limb defects +1 more	GPathogenic
Select item 917483	NM_016312.3(WBP11):c.484C>T (p.Gln162Ter)	WBP11, C12orf60 (Q162*)	Single nucleotide variant (nonsense)	WBP11 spliceosomopathy	GPathogenic
Select item 917482	NM_016312.3(WBP11):c.280C>T (p.Arg94Ter)	WBP11 (R94*)	Single nucleotide variant (nonsense)	WBP11 spliceosomopathy	GLikely pathogenic
Select item 869158	NM_018161.5(NADSYN1):c.395G>T (p.Trp132Leu)	NADSYN1 (W132L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 869157	NM_018161.5(NADSYN1):c.145T>C (p.Cys49Arg)	NADSYN1 (C49R)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 3	GPathogenic
Select item 834715	NM_018161.5(NADSYN1):c.1839C>G (p.Tyr613Ter)	NADSYN1 (Y613*)	Single nucleotide variant (nonsense)	Vertebral, cardiac, renal, and limb defects syndrome 3 +1 more	GPathogenic
Select item 834713	NM_018161.5(NADSYN1):c.735T>A (p.Cys245Ter)	NADSYN1 (C245*)	Single nucleotide variant (nonsense)	Vertebral, cardiac, renal, and limb defects syndrome 3 +1 more	GPathogenic
Select item 834711	NM_018161.5(NADSYN1):c.1819del (p.Val607fs)	NADSYN1 (V607fs)	Deletion (frameshift variant)	Vertebral, cardiac, renal, and limb defects syndrome 3 +1 more	GPathogenic
Select item 834710	NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr)	NADSYN1 (A573T)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +2 more	GPathogenic/Likely pathogenic
Select item 495227	NM_181486.4(TBX5):c.1221C>G (p.Tyr407Ter)	TBX5 (Y407* +1 more)	Single nucleotide variant (nonsense)	Ventricular septal defect +2 more	GPathogenic
Select item 403731	NM_003937.3(KYNU):c.1045_1051del (p.Phe349fs)	KYNU (F349fs)	Deletion (frameshift variant)	Congenital NAD deficiency disorder +2 more	GPathogenic
Select item 403730	NM_003937.3(KYNU):c.468T>A (p.Tyr156Ter)	KYNU (Y156*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 403729	NM_003937.3(KYNU):c.170-1G>T	KYNU	Single nucleotide variant (splice acceptor variant)	Congenital NAD deficiency disorder	GPathogenic
Select item 403728	NM_012205.3(HAAO):c.558G>A (p.Trp186Ter)	HAAO (W186*)	Single nucleotide variant (nonsense)	Congenital NAD deficiency disorder +1 more	GPathogenic
Select item 403727	NM_012205.3(HAAO):c.483dup (p.Asp162Ter)	HAAO (D162*)	Duplication (nonsense)	Congenital NAD deficiency disorder +1 more	GPathogenic
Select item 13329	NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)	PTPN11 (Y62D +1 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 8043	NM_003221.4(TFAP2B):c.854G>A (p.Arg285Gln)	TFAP2B (R285Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

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Items: 38