"Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthc - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 522431	NM_033380.3(COL4A5):c.236A>T (p.Asp79Val)	COL4A5 (D79V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 829984	NM_033380.3(COL4A5):c.436C>A (p.Pro146Thr)	COL4A5 (P146T)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 266003	NM_033380.3(COL4A5):c.488T>C (p.Met163Thr)	COL4A5 (M163T)	Single nucleotide variant (missense variant)	COL4A5-related disorder +3 more	GBenign/Likely benign
Select item 438706	NM_033380.3(COL4A5):c.547G>A (p.Gly183Ser)	COL4A5 (G183S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 522497	NM_033380.3(COL4A5):c.569_570del (p.Ile190fs)	COL4A5 (I190fs)	Microsatellite (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 451889	NM_033380.3(COL4A5):c.584G>T (p.Gly195Val)	COL4A5 (G195V)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 599140	NM_033380.3(COL4A5):c.619G>A (p.Gly207Ser)	COL4A5 (G207S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 599058	NM_033380.3(COL4A5):c.638G>T (p.Gly213Val)	COL4A5 (G213V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 522445	NM_033380.3(COL4A5):c.687del (p.Gly230fs)	COL4A5 (G230fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 522498	NM_033380.3(COL4A5):c.707G>A (p.Gly236Asp)	COL4A5 (G236D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 829853	NM_033380.3(COL4A5):c.799G>A (p.Gly267Arg)	COL4A5 (G267R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 599107	NM_033380.3(COL4A5):c.834+2T>G	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GPathogenic
Select item 522545	NM_033380.3(COL4A5):c.835-2A>G	COL4A5	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 24335	NM_033380.3(COL4A5):c.875del (p.Gly292fs)	COL4A5 (G292fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 438707	NM_033380.3(COL4A5):c.929G>T (p.Gly310Val)	COL4A5 (G310V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 830001	NM_033380.3(COL4A5):c.1129G>A (p.Gly377Arg)	COL4A5 (G377R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 599160	NM_033380.3(COL4A5):c.1132_1138del (p.Ile378fs)	COL4A5 (I378fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
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 522539	NM_033380.3(COL4A5):c.1387G>C (p.Gly463Arg)	COL4A5 (G463R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 599075	NM_033380.3(COL4A5):c.1683A>T (p.Gly561=)	COL4A5	Single nucleotide variant (synonymous variant)	X-linked Alport syndrome	GUncertain significance
Select item 635535	NM_033380.3(COL4A5):c.1708G>A (p.Gly570Arg)	COL4A5 (G570R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 599104	NM_033380.3(COL4A5):c.1771G>A (p.Gly591Arg)	COL4A5 (G591R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 599064	NM_033380.3(COL4A5):c.1843G>A (p.Gly615Arg)	COL4A5 (G615R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 830035	NM_033380.3(COL4A5):c.1902del (p.Gly635fs)	COL4A5 (G635fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 829955	NM_033380.3(COL4A5):c.1933C>T (p.Gln645Ter)	COL4A5 (Q645*)	Single nucleotide variant (nonsense)	X-linked Alport syndrome +1 more	GPathogenic
Select item 599178	NM_033380.3(COL4A5):c.1969C>A (p.Gln657Lys)	COL4A5 (Q657K)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 397579	NM_033380.3(COL4A5):c.2048del (p.Pro683fs)	COL4A5 (P683fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 24494	NM_033380.3(COL4A5):c.2165G>A (p.Gly722Glu)	COL4A5 (G722E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 635479	NM_033380.3(COL4A5):c.2183G>A (p.Gly728Glu)	COL4A5 (G728E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 829858	NM_033380.3(COL4A5):c.2245-3A>G	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GUncertain significance
Select item 807578	NM_033380.3(COL4A5):c.2314G>A (p.Gly772Ser)	COL4A5 (G772S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 829947	NM_033380.3(COL4A5):c.2510-1G>T	COL4A5	Single nucleotide variant (splice acceptor variant)	X-linked Alport syndrome	GPathogenic
Select item 830017	NM_033380.3(COL4A5):c.2533A>G (p.Lys845Glu)	COL4A5 (K845E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 599105	NM_033380.3(COL4A5):c.2537G>A (p.Gly846Glu)	COL4A5 (G846E)	Single nucleotide variant (missense variant)	Rare genetic deafness	GLikely pathogenic
Select item 522544	NM_033380.3(COL4A5):c.2579G>A (p.Gly860Asp)	COL4A5 (G860D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 635542	NM_033380.3(COL4A5):c.2587G>A (p.Gly863Ser)	COL4A5 (G863S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 522409	NM_033380.3(COL4A5):c.2615G>C (p.Gly872Ala)	COL4A5 (G872A)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 522552	NM_033380.3(COL4A5):c.2642G>T (p.Gly881Val)	COL4A5 (G881V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 522413	NM_033380.3(COL4A5):c.2686G>A (p.Gly896Ser)	COL4A5 (G896S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 522481	NM_033380.3(COL4A5):c.2695G>A (p.Gly899Ser)	COL4A5 (G899S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 266009	NM_033380.3(COL4A5):c.2766del (p.Gly923fs)	COL4A5 (G923fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 829976	NM_033380.3(COL4A5):c.2927G>A (p.Gly976Glu)	COL4A5 (G976E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 599106	NM_033380.3(COL4A5):c.2963G>A (p.Gly988Glu)	COL4A5 (G988E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 829934	NM_033380.3(COL4A5):c.3052G>T (p.Gly1018Cys)	COL4A5 (G1018C)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 266002	NM_033380.3(COL4A5):c.3148C>G (p.Pro1050Ala)	COL4A5 (P1050A)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 829923	NM_033380.3(COL4A5):c.3152G>A (p.Gly1051Glu)	COL4A5 (G1051E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 24603	NM_033380.3(COL4A5):c.3196G>A (p.Gly1066Ser)	COL4A5 (G1066S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 807395	NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp)	COL4A5 (G1066D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GPathogenic
Select item 599056	NM_033380.3(COL4A5):c.3247-1G>A	COL4A5	Single nucleotide variant (splice acceptor variant)	X-linked Alport syndrome	GPathogenic
Select item 829910	NM_033380.3(COL4A5):c.3293G>A (p.Gly1098Asp)	COL4A5 (G1098D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 829918	NM_033380.3(COL4A5):c.3295del (p.Ser1099fs)	COL4A5 (S1099fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 522457	NM_033380.3(COL4A5):c.3314T>A (p.Leu1105Ter)	COL4A5 (L1105*)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GPathogenic
Select item 635552	NM_033380.3(COL4A5):c.3319G>T (p.Gly1107Ter)	COL4A5 (G1107*)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GPathogenic
Select item 430135	NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp)	COL4A5 (G1137D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 599154	NM_033380.3(COL4A5):c.3455-8T>G	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GUncertain significance
Select item 635495	NM_033380.3(COL4A5):c.3475C>T (p.Gln1159Ter)	COL4A5 (Q1159*)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GPathogenic
Select item 635512	NM_033380.3(COL4A5):c.3481G>C (p.Gly1161Arg)	COL4A5 (G1161R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 635536	NM_033380.3(COL4A5):c.3482G>A (p.Gly1161Glu)	COL4A5 (G1161E)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 369940	NM_033380.3(COL4A5):c.3487_3488delinsG (p.Pro1163fs)	COL4A5 (P1163fs)	Indel (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 24638	NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser)	COL4A5 (G1170S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 397601	NM_033380.3(COL4A5):c.3509G>A (p.Gly1170Asp)	COL4A5 (G1170D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 992389	NM_033380.3(COL4A5):c.3554G>T (p.Gly1185Val)	COL4A5 (G1185V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 599120	NM_033380.3(COL4A5):c.3604+2T>A	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GPathogenic
Select item 830027	NM_033380.3(COL4A5):c.3808+17G>A	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GUncertain significance
Select item 397580	NM_033380.3(COL4A5):c.3819_3881del (p.Pro1274_Gly1294del)	COL4A5	Deletion (inframe_deletion)	X-linked Alport syndrome	GPathogenic
Select item 522412	NM_033380.3(COL4A5):c.3942G>A (p.Gln1314=)	COL4A5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 829905	NM_033380.3(COL4A5):c.4197del (p.Gly1400fs)	COL4A5 (G1394fs +1 more)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 829907	NM_033380.3(COL4A5):c.4197_4200delinsGGG (p.Pro1401fs)	COL4A5 (P1401fs +1 more)	Indel (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 829906	NM_033380.3(COL4A5):c.4200A>G (p.Gly1400=)	COL4A5	Single nucleotide variant (synonymous variant)	X-linked Alport syndrome	GLikely benign
Select item 24718	NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys)	COL4A5 (R1410C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 635501	NM_033380.3(COL4A5):c.4414C>T (p.Arg1472Cys)	COL4A5 (R1466C +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GUncertain significance
Select item 444822	NM_033380.3(COL4A5):c.4475G>T (p.Gly1492Val)	COL4A5 (G1486V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 587122	NM_033380.3(COL4A5):c.4529-345A>G	COL4A5	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 599108	NM_033380.3(COL4A5):c.4586T>C (p.Ile1529Thr)	COL4A5 (I1523T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 24757	NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln)	COL4A5 (R1563Q +1 more)	Single nucleotide variant (missense variant)	Kidney disorder +3 more	GPathogenic/Likely pathogenic
Select item 599081	NM_033380.3(COL4A5):c.4706+4A>C	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GUncertain significance
Select item 830040	NM_033380.3(COL4A5):c.4709G>T (p.Cys1570Phe)	COL4A5 (C1564F +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 829935	NM_033380.3(COL4A5):c.4749_4750del (p.His1583fs)	COL4A5 (H1583fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 369963	NM_033380.3(COL4A5):c.4763del (p.Gln1588fs)	COL4A5 (Q1582fs +1 more)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 587217	NM_033380.3(COL4A5):c.4811C>T (p.Ser1604Phe)	COL4A5 (S1598F +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 992393	NM_033380.3(COL4A5):c.4831G>A (p.Ala1611Thr)	COL4A5 (A1605T +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 438652	NM_033380.3(COL4A5):c.4895C>T (p.Ser1632Leu)	COL4A5 (S1626L +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 266001	NM_033380.3(COL4A5):c.4900_4903del (p.Pro1634fs)	COL4A5 (P1628fs +1 more)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 10467	NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)	COL4A5 (R1677Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic

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Items: 84