"MVZ Medizinische Genetik Mainz"[submitter] AND "COL4A5"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236264	NM_033380.3(COL4A5):c.6dup (p.Leu3fs)	COL4A5 (L3fs)	Duplication (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 3236019	NM_033380.3(COL4A5):c.321+1G>C	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GPathogenic
Select item 3342277	NM_033380.3(COL4A5):c.446C>T (p.Pro149Leu)	COL4A5 (P149L)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 3236223	NM_033380.3(COL4A5):c.449_450delinsAT (p.Gly150Asp)	COL4A5 (G150D)	Indel (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3066343	NM_033380.3(COL4A5):c.600del (p.Gly201fs)	COL4A5 (G201fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 3256670	NM_033380.3(COL4A5):c.609+833C>A	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GUncertain significance
Select item 3236110	NM_033380.3(COL4A5):c.609+841A>G	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GUncertain significance
Select item 3068397	NM_033380.3(COL4A5):c.802_817del (p.Pro268fs)	COL4A5 (P268fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 3256885	NM_033380.3(COL4A5):c.809G>T (p.Gly270Val)	COL4A5 (G270V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3236354	NM_033380.3(COL4A5):c.892G>T (p.Gly298Cys)	COL4A5 (G298C)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3236056	NM_033380.3(COL4A5):c.949del (p.Asp317fs)	COL4A5 (D317fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 3066242	NM_033380.3(COL4A5):c.1033-10G>A	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3236033	NM_033380.3(COL4A5):c.1208G>C (p.Gly403Ala)	COL4A5 (G403A)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3235208	NM_033380.3(COL4A5):c.1312G>A (p.Gly438Ser)	COL4A5 (G438S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3256659	NM_033380.3(COL4A5):c.1537C>T (p.Gln513Ter)	COL4A5 (Q513*)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GPathogenic
Select item 2577423	NM_033380.3(COL4A5):c.1718G>T (p.Gly573Val)	COL4A5 (G573V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 3256696	NM_033380.3(COL4A5):c.1814dup (p.Gly606fs)	COL4A5 (G606fs)	Duplication (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 3236211	NM_033380.3(COL4A5):c.2041+1G>A	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GPathogenic
Select item 3236228	NM_033380.3(COL4A5):c.2146+1G>C	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GPathogenic
Select item 3236219	NM_033380.3(COL4A5):c.2165G>T (p.Gly722Val)	COL4A5 (G722V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3236218	NM_033380.3(COL4A5):c.2360G>A (p.Gly787Glu)	COL4A5 (G787E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3068399	NM_033380.3(COL4A5):c.2446C>T (p.Pro816Ser)	COL4A5 (P816S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 3234030	NM_033380.3(COL4A5):c.2492G>A (p.Gly831Glu)	COL4A5 (G831E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 3236229	NM_033380.3(COL4A5):c.2576C>T (p.Pro859Leu)	COL4A5 (P859L)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 3066211	NM_033380.3(COL4A5):c.2723G>C (p.Gly908Ala)	COL4A5 (G908A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3066178	NM_033380.3(COL4A5):c.2998G>T (p.Gly1000Ter)	COL4A5 (G1000*)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GPathogenic
Select item 3236235	NM_033380.3(COL4A5):c.3043G>A (p.Gly1015Arg)	COL4A5 (G1015R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 2577448	NM_033380.3(COL4A5):c.3097G>T (p.Gly1033Cys)	COL4A5 (G1033C)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 2692323	NM_033380.3(COL4A5):c.3098G>T (p.Gly1033Val)	COL4A5 (G1033V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3236230	NM_033380.3(COL4A5):c.3329G>A (p.Gly1110Glu)	COL4A5 (G1110E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3066217	NM_033380.3(COL4A5):c.3329G>T (p.Gly1110Val)	COL4A5 (G1110V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3236026	NM_033380.3(COL4A5):c.3356G>A (p.Gly1119Asp)	COL4A5 (G1119D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3236114	NM_033380.3(COL4A5):c.3453dup (p.Gly1152fs)	COL4A5 (G1152fs)	Duplication (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 3066345	NM_033380.3(COL4A5):c.3498del (p.Gly1167fs)	COL4A5 (G1167fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 3066356	NM_033380.3(COL4A5):c.3553+2T>C	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GPathogenic
Select item 3338392	NM_033380.3(COL4A5):c.3584del (p.Pro1195fs)	COL4A5 (P1195fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 3236227	NM_033380.3(COL4A5):c.3595G>A (p.Gly1199Arg)	COL4A5 (G1199R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 3342298	NM_033380.3(COL4A5):c.3703G>A (p.Gly1235Ser)	COL4A5 (G1235S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3066320	NM_033380.3(COL4A5):c.4061_4062delinsAT (p.Gly1354Asp)	COL4A5 (G1348D +1 more)	Indel (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3235212	NM_033380.3(COL4A5):c.4135G>A (p.Gly1379Arg)	COL4A5 (G1373R +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3066289	NM_033380.3(COL4A5):c.4217-14T>G	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GUncertain significance
Select item 3061894	NM_033380.3(COL4A5):c.4321C>T (p.Arg1441Cys)	COL4A5 (R1435C +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 3236055	NM_033380.3(COL4A5):c.4425_4428del (p.Thr1476fs)	COL4A5 (T1470fs +1 more)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 3338416	NM_033380.3(COL4A5):c.4453G>A (p.Gly1485Arg)	COL4A5 (G1479R +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 3066185	NM_033380.3(COL4A5):c.4528+5G>A	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GUncertain significance
Select item 3235211	NM_033380.3(COL4A5):c.4706G>C (p.Arg1569Pro)	COL4A5 (R1563P +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3256876	NM_033380.3(COL4A5):c.4769C>G (p.Pro1590Arg)	COL4A5 (P1584R +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3236356	NM_033380.3(COL4A5):c.4912T>C (p.Cys1638Arg)	COL4A5 (C1632R +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic/Likely pathogenic
Select item 3236784	NM_033380.3(COL4A5):c.4997A>C (p.Lys1666Thr)	COL4A5 (K1660T +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance

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Items: 49