C4746986[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 14357	NM_138715.3(MSR1):c.877C>T (p.Arg293Ter)	MSR1 (R293* +1 more)	Single nucleotide variant (nonsense)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 767183	NM_033380.3(COL4A5):c.443C>T (p.Pro148Leu)	COL4A5 (P148L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1322136	NM_033380.3(COL4A5):c.866G>A (p.Gly289Asp)	COL4A5 (G289D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 24393	NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg)	COL4A5 (G426R)	Single nucleotide variant (missense variant)	COL4A5-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 988118	NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg)	COL4A5 (G509R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2439396	NM_033380.3(COL4A5):c.1736G>A (p.Gly579Glu)	COL4A5 (G579E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2439405	NM_033380.3(COL4A5):c.1949-3_1949delinsAGGATCCCCTGGA	COL4A5	Indel (splice acceptor variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1322135	NM_033380.3(COL4A5):c.2087G>A (p.Gly696Asp)	COL4A5 (G696D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2688829	NM_033380.3(COL4A5):c.2767+3_2767+14del	COL4A5	Deletion (splice donor variant)	X-linked Alport syndrome	GUncertain significance
Select item 2440323	NM_033380.3(COL4A5):c.3194A>G (p.Lys1065Arg)	COL4A5 (K1065R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 24676	NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys)	COL4A5 (G1241C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1324124	NM_033380.3(COL4A5):c.3809G>A (p.Gly1270Asp)	COL4A5 (G1264D +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GLikely pathogenic
Select item 1322134	NM_033380.3(COL4A5):c.4055del (p.Pro1352fs)	COL4A5 (P1346fs +1 more)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 1324123	NM_033380.3(COL4A5):c.4445G>A (p.Cys1482Tyr)	COL4A5 (C1476Y +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2440322	NM_033380.3(COL4A5):c.4747C>G (p.His1583Asp)	COL4A5 (H1577D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2440324	NM_033380.3(COL4A5):c.4970C>A (p.Thr1657Asn)	COL4A5 (T1651N +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance