"Counsyl"[submitter] AND "COL4A3"[gene] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 555012	NM_000091.5(COL4A3):c.1A>C (p.Met1Leu)	COL4A3, LOC129935730 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 556991	NM_000091.5(COL4A3):c.2T>C (p.Met1Thr)	COL4A3, LOC129935730 (M1T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 553669	NM_000091.5(COL4A3):c.39_47dup (p.Pro15_Leu17dup)	COL4A3, LOC129935730	Duplication (inframe_insertion)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 558441	NM_000091.5(COL4A3):c.145-2_145-1del	COL4A3, MFF-DT	Deletion (splice acceptor variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 558062	NM_000091.5(COL4A3):c.145G>A (p.Gly49Arg)	COL4A3, MFF-DT (G49R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GUncertain significance
Select item 553693	NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser)	COL4A3, MFF-DT (G58S)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 556684	NM_000091.5(COL4A3):c.279+1G>A	MFF-DT, COL4A3	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 558270	NM_000091.5(COL4A3):c.309_317del (p.Ser104_Gly106del)	COL4A3, MFF-DT	Deletion (inframe_deletion)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 254990	NM_000091.5(COL4A3):c.325-18G>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 550436	NM_000091.5(COL4A3):c.325-1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 554004	NM_000091.5(COL4A3):c.345del (p.Pro116fs)	COL4A3, MFF-DT (P116fs)	Deletion (frameshift variant)	Autosomal dominant Alport syndrome +2 more	GPathogenic
Select item 552802	NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg)	COL4A3, MFF-DT (G118R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 553210	NM_000091.5(COL4A3):c.388-1G>T	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	Autosomal recessive Alport syndrome +3 more	GLikely pathogenic
Select item 558496	NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter)	COL4A3, MFF-DT (E131*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 551046	NM_000091.5(COL4A3):c.443G>T (p.Gly148Val)	COL4A3, MFF-DT (G148V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 552190	NM_000091.5(COL4A3):c.468+1del	COL4A3, MFF-DT	Deletion (splice donor variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 555957	NM_000091.5(COL4A3):c.468+1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 550196	NM_000091.5(COL4A3):c.468+1G>T	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 550529	NM_000091.5(COL4A3):c.469G>C (p.Gly157Arg)	COL4A3, MFF-DT (G157R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 557799	NM_000091.5(COL4A3):c.645+2T>C	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 553434	NM_000091.5(COL4A3):c.663_664del (p.Arg221fs)	COL4A3, MFF-DT (R221fs)	Microsatellite (frameshift variant)	Autosomal dominant Alport syndrome +2 more	GPathogenic/Likely pathogenic
Select item 553977	NM_000091.5(COL4A3):c.713dup (p.Pro240fs)	COL4A3, MFF-DT (P240fs)	Duplication (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 266006	NM_000091.5(COL4A3):c.765G>A (p.Thr255=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 553237	NM_000091.5(COL4A3):c.829-2A>C	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	Autosomal recessive Alport syndrome +1 more	GLikely pathogenic
Select item 549933	NM_000091.5(COL4A3):c.890G>A (p.Gly297Glu)	COL4A3, MFF-DT (G297E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 553304	NM_000091.5(COL4A3):c.949_950del (p.Arg317fs)	COL4A3, MFF-DT (R317fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome +3 more	GPathogenic/Likely pathogenic
Select item 556198	NM_000091.5(COL4A3):c.1143_1150+1del	COL4A3, MFF-DT	Deletion (splice donor variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 556584	NM_000091.5(COL4A3):c.1153TCA[1] (p.Ser386del)	COL4A3, MFF-DT (S386del)	Microsatellite (inframe_deletion)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 495548	NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter)	COL4A3, MFF-DT (R406*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 551759	NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser)	COL4A3, MFF-DT (G439S)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +3 more	GPathogenic/Likely pathogenic
Select item 551440	NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg)	COL4A3, MFF-DT (G452R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 558060	NM_000091.5(COL4A3):c.1370_1378del (p.Leu457_Ser459del)	COL4A3, MFF-DT	Deletion (inframe_deletion)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 557644	NM_000091.5(COL4A3):c.1459G>T (p.Gly487Cys)	COL4A3, MFF-DT (G487C)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GConflicting classifications of pathogenicity
Select item 558131	NM_000091.5(COL4A3):c.1687G>A (p.Gly563Arg)	COL4A3, MFF-DT (G563R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GConflicting classifications of pathogenicity
Select item 551045	NM_000091.5(COL4A3):c.1758+1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 556517	NM_000091.5(COL4A3):c.1806_1814del (p.603SPG[1])	COL4A3, MFF-DT	Deletion (inframe_deletion)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 371669	NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg)	COL4A3, MFF-DT (G640R)	Single nucleotide variant (missense variant)	Microscopic hematuria +2 more	GPathogenic/Likely pathogenic
Select item 557089	NM_000091.5(COL4A3):c.1927+2T>C	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 555966	NM_000091.5(COL4A3):c.2031_2038dup (p.Gly680fs)	COL4A3, MFF-DT (G680fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 550056	NM_000091.5(COL4A3):c.2065G>A (p.Gly689Arg)	COL4A3, MFF-DT (G689R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 371670	NM_000091.5(COL4A3):c.2215G>A (p.Gly739Arg)	COL4A3, MFF-DT (G739R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GLikely pathogenic
Select item 555302	NM_000091.5(COL4A3):c.2223+1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	Autosomal recessive Alport syndrome +1 more	GLikely pathogenic
Select item 556542	NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1])	COL4A3, MFF-DT	Deletion (inframe_deletion)	Autosomal recessive Alport syndrome +3 more	GPathogenic/Likely pathogenic
Select item 554306	NM_000091.5(COL4A3):c.2328_2336del (p.772LPG[2])	COL4A3, MFF-DT	Deletion (inframe_deletion)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 397514	NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter)	COL4A3, MFF-DT (R791*)	Single nucleotide variant (nonsense)	Autosomal dominant Alport syndrome +3 more	GPathogenic/Likely pathogenic
Select item 552236	NM_000091.5(COL4A3):c.2417dup (p.Gly807fs)	COL4A3, MFF-DT (G807fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 553278	NM_000091.5(COL4A3):c.2535del (p.Leu846fs)	COL4A3, MFF-DT (L846fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome +3 more	GPathogenic/Likely pathogenic
Select item 551951	NM_000091.5(COL4A3):c.2621_2622delinsT (p.Gly874fs)	COL4A3, MFF-DT (G874fs)	Indel (frameshift variant)	Autosomal dominant Alport syndrome +3 more	GPathogenic
Select item 555526	NM_000091.5(COL4A3):c.2747-1G>C	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	Autosomal recessive Alport syndrome +2 more	GLikely pathogenic
Select item 558101	NM_000091.5(COL4A3):c.2765G>T (p.Gly922Val)	COL4A3, MFF-DT (G922V)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 551819	NM_000091.5(COL4A3):c.2768_2778del (p.Val923fs)	COL4A3, MFF-DT (V923fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome +1 more	GPathogenic
Select item 554007	NM_000091.5(COL4A3):c.2827G>A (p.Gly943Arg)	COL4A3, MFF-DT (G943R)	Single nucleotide variant (missense variant)	Alport syndrome +2 more	GUncertain significance
Select item 550177	NM_000091.5(COL4A3):c.2838_2839del (p.Glu946fs)	COL4A3, MFF-DT (E946fs)	Microsatellite (frameshift variant)	Autosomal recessive Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 17490	NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val)	COL4A3, MFF-DT (G985V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 551881	NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu)	COL4A3, MFF-DT (G997E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GConflicting classifications of pathogenicity
Select item 554110	NM_000091.5(COL4A3):c.3109C>T (p.Arg1037Ter)	COL4A3, MFF-DT (R1037*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 552548	NM_000091.5(COL4A3):c.3148C>T (p.Gln1050Ter)	COL4A3, MFF-DT (Q1050*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 552669	NM_000091.5(COL4A3):c.3189_3197dup (p.1064PGP[3])	COL4A3, MFF-DT	Duplication (inframe_insertion)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 554710	NM_000091.5(COL4A3):c.3210+1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 557875	NM_000091.5(COL4A3):c.3211-1G>C	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 556711	NM_000091.5(COL4A3):c.3454G>C (p.Gly1152Arg)	MFF-DT, COL4A3 (G1152R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 556767	NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg)	COL4A3, MFF-DT (G1158R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 17492	NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg)	COL4A3, MFF-DT (G1167R)	Single nucleotide variant (missense variant)	Benign familial hematuria +3 more	GPathogenic
Select item 551419	NM_000091.5(COL4A3):c.3662_3664del (p.Glu1221del)	MFF-DT, COL4A3 (E1221del)	Deletion (inframe_deletion)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 554433	NM_000091.5(COL4A3):c.3691G>A (p.Gly1231Ser)	COL4A3, MFF-DT (G1231S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 555218	NM_000091.5(COL4A3):c.3751+1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 555905	NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)	COL4A3, MFF-DT (G1277S)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 557014	NM_000091.5(COL4A3):c.3883-2A>G	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 555238	NM_000091.5(COL4A3):c.4326_4328del (p.Thr1443del)	COL4A3, MFF-DT (T1443del)	Deletion (inframe_deletion)	Autosomal recessive Alport syndrome +1 more	GUncertain significance
Select item 550302	NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs)	COL4A3, MFF-DT (R1450fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 556032	NM_000091.5(COL4A3):c.4420_4424del (p.Leu1474fs)	COL4A3, MFF-DT (L1474fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 17484	NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter)	COL4A3, MFF-DT (R1481*)	Single nucleotide variant (nonsense)	Benign familial hematuria +3 more	GPathogenic
Select item 554855	NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter)	COL4A3, MFF-DT (R1496*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome +3 more	GPathogenic/Likely pathogenic
Select item 551687	NM_000091.5(COL4A3):c.4502C>A (p.Pro1501Gln)	MFF-DT, COL4A3 (P1501Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 551974	NM_000091.5(COL4A3):c.4504T>C (p.Phe1502Leu)	COL4A3, MFF-DT (F1502L)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 334786	NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser)	COL4A3, MFF-DT (N1508S)	Single nucleotide variant (missense variant)	Benign familial hematuria +5 more	GConflicting classifications of pathogenicity
Select item 552261	NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter)	COL4A3, MFF-DT (R1516*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome +3 more	GPathogenic/Likely pathogenic
Select item 17485	NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter)	COL4A3, MFF-DT (S1524*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 558114	NM_000091.5(COL4A3):c.4615_4617dup (p.Arg1539dup)	COL4A3, MFF-DT	Duplication (inframe_insertion)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 553259	NM_000091.5(COL4A3):c.4640+1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 557384	NM_000091.5(COL4A3):c.4756-1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 550745	NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg)	COL4A3, MFF-DT (L1598R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 556043	NM_000091.5(COL4A3):c.4798_4800del (p.Ser1600del)	COL4A3, MFF-DT (S1600del)	Deletion (inframe_deletion)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 558630	NM_000091.5(COL4A3):c.4802del (p.Pro1601fs)	COL4A3, MFF-DT (P1601fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 550931	NM_000091.5(COL4A3):c.4803del (p.Gly1602fs)	COL4A3, MFF-DT	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 447174	NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter)	COL4A3, MFF-DT (R1609*)	Single nucleotide variant (nonsense)	Autosomal dominant Alport syndrome +3 more	GPathogenic
Select item 555934	NM_000091.5(COL4A3):c.4872C>G (p.Tyr1624Ter)	COL4A3, MFF-DT (Y1624*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 554724	NM_000091.5(COL4A3):c.4976dup (p.Ser1660fs)	COL4A3, MFF-DT (S1660fs)	Duplication (frameshift variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 555499	NM_000091.5(COL4A3):c.4977_4979dup (p.Ile1659_Ser1660insArg)	COL4A3, MFF-DT	Duplication (inframe_insertion)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 445315	NM_000091.5(COL4A3):c.4994G>A (p.Cys1665Tyr)	COL4A3, MFF-DT (C1665Y)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GConflicting classifications of pathogenicity
Select item 397585	NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa)	COL4A3, MFF-DT	Deletion (stop lost)	not provided +1 more	GUncertain significance

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Items: 91