ClinVar (all) for Orgtrack (Select 506095) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1339475	NM_001042492.3(NF1):c.7205C>G (p.Ser2402Ter)	NF1 (S2381* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 983477	NM_002968.3(SALL1):c.1365_1366insGCAG (p.Lys456fs)	SALL1 (K359fs +1 more)	Insertion (frameshift variant)	Townes-Brocks syndrome 1	GPathogenic
Select item 974708	NM_021871.4(FGA):c.215G>A (p.Gly72Glu)	FGA (G72E)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 974707	NM_001002295.2(GATA3):c.1262C>T (p.Thr421Met)	GATA3 (T420M +1 more)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome	GLikely pathogenic
Select item 973193	NM_024426.6(WT1):c.1338C>A (p.His446Gln)	WT1 (H429Q +10 more)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +3 more	GPathogenic
Select item 973192	NM_000030.3(AGXT):c.534C>G (p.Cys178Trp)	AGXT (C178W)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 972717	NM_033380.3(COL4A5):c.1967G>A (p.Gly656Asp)	COL4A5 (G656D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 635111	NM_033380.3(COL4A5):c.1147G>C (p.Gly383Arg)	COL4A5 (G383R)	Single nucleotide variant (missense variant)	Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 635012	NM_000092.5(COL4A4):c.719G>A (p.Gly240Glu)	COL4A4 (G240E)	Single nucleotide variant (missense variant)	Benign familial hematuria	GLikely pathogenic
Select item 633835	NM_033380.3(COL4A5):c.2509+2T>G	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GPathogenic
Select item 403710	NM_153240.5(NPHP3):c.3608del (p.Ala1203fs)	NPHP3-ACAD11, NPHP3 (A1203fs)	Deletion (non-coding transcript variant +1 more)	Nephronophthisis 3	GPathogenic