C0241908[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 334704	NM_000092.5(COL4A4):c.4421C>T (p.Thr1474Met)	COL4A4 (T1474M)	Single nucleotide variant (missense variant)	Benign familial hematuria +4 more	GConflicting classifications of pathogenicity
Select item 2101958	NM_000092.5(COL4A4):c.3055G>A (p.Glu1019Lys)	COL4A4 (E1019K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1333646	NM_000092.5(COL4A4):c.2869G>A (p.Gly957Arg)	COL4A4 (G957R)	Single nucleotide variant (missense variant)	Benign familial hematuria	GUncertain significance
Select item 2444126	NM_000092.5(COL4A4):c.2383+1G>T	COL4A4	Single nucleotide variant (splice donor variant)	Benign familial hematuria	GLikely pathogenic
Select item 1687188	NM_000092.5(COL4A4):c.1807_1816del (p.Asp603fs)	COL4A4 (D603fs)	Deletion (frameshift variant)	Benign familial hematuria	GLikely pathogenic
Select item 552183	NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del)	COL4A4	Deletion (inframe_deletion)	Benign familial hematuria +3 more	GPathogenic/Likely pathogenic
Select item 1526195	NM_000092.5(COL4A4):c.832C>T (p.Pro278Ser)	COL4A4 (P278S)	Single nucleotide variant (missense variant)	Benign familial hematuria	GUncertain significance
Select item 635513	NM_000092.5(COL4A4):c.755G>T (p.Gly252Val)	COL4A4 (G252V)	Single nucleotide variant (missense variant)	Benign familial hematuria +1 more	GLikely pathogenic
Select item 1526243	NM_000092.5(COL4A4):c.536T>G (p.Leu179Ter)	COL4A4 (L179*)	Single nucleotide variant (nonsense)	Benign familial hematuria	GLikely pathogenic
Select item 1687364	NM_000092.5(COL4A4):c.489dup (p.Gly164fs)	COL4A4 (G164fs)	Duplication (frameshift variant)	Benign familial hematuria	GLikely pathogenic
Select item 192299	NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del)	COL4A3, LOC129935730	Deletion (inframe_deletion)	not provided +5 more	GPathogenic
Select item 266006	NM_000091.5(COL4A3):c.765G>A (p.Thr255=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 562427	NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)	COL4A3, MFF-DT (G300R)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1333494	NM_000091.5(COL4A3):c.2498G>A (p.Gly833Asp)	COL4A3, MFF-DT (G833D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity