"Institute of Human Genetics, Cologne University"[submitter] AND "COL4 - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1700009	NM_033380.3(COL4A5):c.427C>T (p.Gln143Ter)	COL4A5 (Q143*)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GLikely pathogenic
Select item 1328471	NM_033380.3(COL4A5):c.936+2T>C	COL4A5	Single nucleotide variant (splice donor variant)	Alport syndrome	GPathogenic
Select item 1700014	NM_033380.3(COL4A5):c.1312G>C (p.Gly438Arg)	COL4A5 (G438R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 446217	NM_033380.3(COL4A5):c.1483dup (p.Gln495fs)	COL4A5 (Q495fs)	Duplication (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 427902	NM_033380.3(COL4A5):c.1520C>A (p.Ser507Tyr)	COL4A5 (S507Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678532	NM_033380.3(COL4A5):c.1780-11T>A	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GUncertain significance
Select item 691807	NM_033380.3(COL4A5):c.2378G>C (p.Gly793Ala)	COL4A5 (G793A)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2501697	NM_033380.3(COL4A5):c.3399del (p.Gly1134fs)	COL4A5 (G1134fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1328468	NM_033380.3(COL4A5):c.3553G>C (p.Gly1185Arg)	COL4A5 (G1185R)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 1328473	NM_033380.3(COL4A5):c.3703G>T (p.Gly1235Cys)	COL4A5 (G1235C)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 2584402	NM_033380.3(COL4A5):c.3791-41A>G	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GPathogenic
Select item 2683905	NM_033380.3(COL4A5):c.3828_3871del (p.Pro1277fs)	COL4A5 (P1271fs +1 more)	Deletion (frameshift variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 623486	NM_033380.3(COL4A5):c.4389dup (p.Val1464fs)	COL4A5 (V1464fs +1 more)	Duplication (frameshift variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 805941	NM_033380.3(COL4A5):c.4441C>T (p.Gln1481Ter)	COL4A5 (Q1475* +1 more)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GPathogenic
Select item 638646	NM_033380.3(COL4A5):c.4804G>A (p.Gly1602Ser)	COL4A5 (G1596S +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic