C4746745[trait identifier] AND "3billion"[submitter] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 552377	NM_000092.5(COL4A4):c.4817G>A (p.Gly1606Glu)	COL4A4 (G1606E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 959686	NM_000092.5(COL4A4):c.4470del (p.Tyr1491fs)	COL4A4 (Y1491fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome +1 more	GPathogenic
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 1687154	NM_000092.5(COL4A4):c.4093G>T (p.Glu1365Ter)	COL4A4 (E1365*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1705470	NM_000092.5(COL4A4):c.3317G>T (p.Gly1106Val)	COL4A4 (G1106V)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 1705598	NM_000092.5(COL4A4):c.2968+1G>T	COL4A4	Single nucleotide variant (splice donor variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 988149	NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg)	COL4A4 (G918R)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 553903	NM_000092.5(COL4A4):c.2510G>C (p.Gly837Ala)	COL4A4 (G837A)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 191313	NM_000092.5(COL4A4):c.2420del (p.Gly807fs)	COL4A4 (G807fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome +1 more	GConflicting classifications of pathogenicity
Select item 225322	NM_000092.5(COL4A4):c.2045A>G (p.Asp682Gly)	COL4A4 (D682G)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GUncertain significance
Select item 1333214	NM_000092.5(COL4A4):c.1967A>G (p.Asp656Gly)	COL4A4 (D656G)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 2444358	NM_000092.5(COL4A4):c.1666A>G (p.Lys556Glu)	COL4A4 (K556E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 554661	NM_000092.5(COL4A4):c.1579G>T (p.Gly527Cys)	COL4A4 (G527C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2444225	NM_000092.5(COL4A4):c.1459+1G>A	COL4A4	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely 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 1333430	NM_000092.5(COL4A4):c.1099+1G>T	COL4A4	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 1705302	NM_000092.5(COL4A4):c.489+6A>G	COL4A4	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 1526227	NM_000092.5(COL4A4):c.248G>A (p.Gly83Glu)	COL4A4 (G83E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 555012	NM_000091.5(COL4A3):c.1A>C (p.Met1Leu)	COL4A3, LOC129935730 (M1L)	Single nucleotide variant (missense variant +1 more)	Alport syndrome +2 more	GPathogenic/Likely 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 1526260	NM_000091.5(COL4A3):c.1029+4A>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 1687543	NM_000091.5(COL4A3):c.1307G>T (p.Gly436Val)	COL4A3, MFF-DT (G436V)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 1687269	NM_000091.5(COL4A3):c.1873G>C (p.Gly625Arg)	MFF-DT, COL4A3 (G625R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GUncertain significance
Select item 2572431	NM_000091.5(COL4A3):c.2057G>A (p.Gly686Asp)	COL4A3, MFF-DT (G686D)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 2572470	NM_000091.5(COL4A3):c.3427G>A (p.Gly1143Arg)	COL4A3, MFF-DT (G1143R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1687414	NM_000091.5(COL4A3):c.4114C>T (p.Gln1372Ter)	COL4A3, MFF-DT (Q1372*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GPathogenic
Select item 2444275	NM_000091.5(COL4A3):c.4812C>A (p.Cys1604Ter)	COL4A3, MFF-DT (C1604*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GPathogenic

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Items: 29