"Fulgent Genetics, Fulgent Genetics"[submitter] AND "COL4A3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 334745	NM_000092.4(COL4A4):c.-408G>A	COL4A3, COL4A4	Single nucleotide variant	Benign familial hematuria +3 more	GUncertain significance
Select item 1304000	NM_000091.5(COL4A3):c.11G>A (p.Arg4Gln)	COL4A3, LOC129935730 (R4Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 517578	NM_000091.5(COL4A3):c.21C>A (p.Pro7=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 1386500	NM_000091.5(COL4A3):c.25C>T (p.Pro9Ser)	COL4A3, LOC129935730 (P9S)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 192299	NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del)	COL4A3, LOC129935730	Deletion (inframe_deletion)	not provided +5 more	GPathogenic
Select item 719406	NM_000091.5(COL4A3):c.43_54del (p.Pro15_Leu18del)	COL4A3, LOC129935730	Deletion (inframe_indel)	Autosomal dominant Alport syndrome +4 more	GLikely benign
Select item 1009633	NM_000091.5(COL4A3):c.44C>G (p.Pro15Arg)	COL4A3, LOC129935730 (P15R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GUncertain significance
Select item 753430	NM_000091.5(COL4A3):c.45G>A (p.Pro15=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1075091	NM_000091.5(COL4A3):c.92_95dup (p.Lys34fs)	COL4A3, MFF-DT (K34fs)	Microsatellite (frameshift variant)	Autosomal dominant Alport syndrome +3 more	GPathogenic
Select item 754503	NM_000091.5(COL4A3):c.204T>C (p.Pro68=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 751501	NM_000091.5(COL4A3):c.222G>A (p.Pro74=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +3 more	GLikely benign
Select item 1499344	NM_000091.5(COL4A3):c.234+1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	Autosomal dominant Alport syndrome +3 more	GLikely pathogenic
Select item 1360324	NM_000091.5(COL4A3):c.260C>T (p.Thr87Met)	COL4A3, MFF-DT (T87M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 718509	NM_000091.5(COL4A3):c.274G>C (p.Val92Leu)	COL4A3, MFF-DT (V92L)	Single nucleotide variant (missense variant)	Benign familial hematuria +3 more	GLikely benign
Select item 1096423	NM_000091.5(COL4A3):c.280-10_280-9del	COL4A3, MFF-DT	Deletion (intron variant)	Autosomal dominant Alport syndrome +3 more	GLikely benign
Select item 1597429	NM_000091.5(COL4A3):c.325-20G>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal dominant Alport syndrome +3 more	GLikely benign
Select item 1154725	NM_000091.5(COL4A3):c.384T>C (p.Ser128=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +3 more	GLikely benign
Select item 895915	NM_000091.5(COL4A3):c.388-15T>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 932212	NM_000091.5(COL4A3):c.388-2A>G	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GLikely pathogenic
Select item 553210	NM_000091.5(COL4A3):c.388-1G>T	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GLikely pathogenic
Select item 558496	NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter)	COL4A3, MFF-DT (E131*)	Single nucleotide variant (nonsense)	Autosomal dominant Alport syndrome +3 more	GPathogenic/Likely pathogenic
Select item 452744	NM_000091.5(COL4A3):c.441G>A (p.Pro147=)	MFF-DT, COL4A3	Single nucleotide variant (synonymous variant)	Benign familial hematuria +4 more	GUncertain significance
Select item 1673499	NM_000091.5(COL4A3):c.442-15T>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal dominant Alport syndrome +3 more	GBenign/Likely benign
Select item 1118754	NM_000091.5(COL4A3):c.468+8A>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal dominant Alport syndrome +3 more	GLikely benign
Select item 550529	NM_000091.5(COL4A3):c.469G>C (p.Gly157Arg)	COL4A3, MFF-DT (G157R)	Single nucleotide variant (missense variant)	Alport syndrome +4 more	GUncertain significance
Select item 896196	NM_000091.5(COL4A3):c.513C>T (p.Gly171=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +5 more	GConflicting classifications of pathogenicity
Select item 829847	NM_000091.5(COL4A3):c.514G>A (p.Asp172Asn)	COL4A3, MFF-DT (D172N)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1513666	NM_000091.5(COL4A3):c.568T>C (p.Phe190Leu)	COL4A3, MFF-DT (F190L)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1307444	NM_000091.5(COL4A3):c.587C>T (p.Pro196Leu)	COL4A3, MFF-DT (P196L)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GUncertain significance
Select item 1179076	NM_000091.5(COL4A3):c.656G>T (p.Gly219Val)	MFF-DT, COL4A3 (G219V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +2 more	GLikely pathogenic
Select item 546314	NM_000091.5(COL4A3):c.686G>T (p.Arg229Leu)	COL4A3, MFF-DT (R229L)	Single nucleotide variant (missense variant)	Alport syndrome +4 more	GUncertain significance
Select item 1203930	NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser)	COL4A3, MFF-DT (G230S)	Single nucleotide variant (missense variant)	Benign familial hematuria +3 more	GLikely pathogenic
Select item 750930	NM_000091.5(COL4A3):c.714G>A (p.Pro238=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +3 more	GLikely benign
Select item 447177	NM_000091.5(COL4A3):c.756T>A (p.Asp252Glu)	COL4A3, MFF-DT (D252E)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 266006	NM_000091.5(COL4A3):c.765G>A (p.Thr255=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1087221	NM_000091.5(COL4A3):c.766-7T>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1362430	NM_000091.5(COL4A3):c.766-5G>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal dominant Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 562337	NM_000091.5(COL4A3):c.872G>A (p.Gly291Glu)	COL4A3, MFF-DT (G291E)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely pathogenic
Select item 1593409	NM_000091.5(COL4A3):c.888+17G>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 792471	NM_000091.5(COL4A3):c.933+9T>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal dominant Alport syndrome +3 more	GLikely benign
Select item 725025	NM_000091.5(COL4A3):c.934-6C>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 553304	NM_000091.5(COL4A3):c.949_950del (p.Arg317fs)	COL4A3, MFF-DT (R317fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 562344	NM_000091.5(COL4A3):c.953G>A (p.Gly318Asp)	COL4A3, MFF-DT (G318D)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +2 more	GLikely pathogenic
Select item 990631	NM_000091.5(COL4A3):c.964T>C (p.Leu322=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +3 more	GLikely benign
Select item 1606318	NM_000091.5(COL4A3):c.988-6C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 562453	NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys)	COL4A3, MFF-DT (G336C)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1341999	NM_000091.5(COL4A3):c.1021C>T (p.Arg341Cys)	COL4A3, MFF-DT (R341C)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +2 more	GUncertain significance
Select item 599070	NM_000091.5(COL4A3):c.1022G>A (p.Arg341His)	COL4A3, MFF-DT (R341H)	Single nucleotide variant (missense variant)	Alport syndrome 3b, autosomal recessive +5 more	GConflicting classifications of pathogenicity
Select item 1047794	NM_000091.5(COL4A3):c.1039T>A (p.Tyr347Asn)	COL4A3, MFF-DT (Y347N)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1496550	NM_000091.5(COL4A3):c.1114+1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	Autosomal dominant Alport syndrome +3 more	GLikely pathogenic
Select item 1573498	NM_000091.5(COL4A3):c.1115-12A>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal dominant Alport syndrome +3 more	GLikely benign
Select item 430020	NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu)	COL4A3, MFF-DT (G395E)	Single nucleotide variant (missense variant)	Alport syndrome +4 more	GPathogenic/Likely pathogenic
Select item 632350	NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg)	COL4A3, MFF-DT (G407R)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1422757	NM_000091.5(COL4A3):c.1262del (p.Gly421fs)	COL4A3, MFF-DT (G421fs)	Deletion (frameshift variant)	Autosomal dominant Alport syndrome +4 more	GPathogenic/Likely pathogenic
Select item 1633505	NM_000091.5(COL4A3):c.1311G>C (p.Pro437=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 551759	NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser)	COL4A3, MFF-DT (G439S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 334760	NM_000091.5(COL4A3):c.1367_1369del (p.Tyr456del)	COL4A3, MFF-DT (Y456del)	Deletion (inframe_deletion)	Benign familial hematuria +4 more	GUncertain significance
Select item 1355638	NM_000091.5(COL4A3):c.1372G>A (p.Gly458Arg)	COL4A3, MFF-DT (G458R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 447166	NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg)	COL4A3, MFF-DT (G458R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1470896	NM_000091.5(COL4A3):c.1391G>A (p.Gly464Glu)	COL4A3, MFF-DT (G464E)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely pathogenic
Select item 842545	NM_000091.5(COL4A3):c.1407del (p.Gly470fs)	COL4A3, MFF-DT (G470fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1678539	NM_000091.5(COL4A3):c.1409G>A (p.Gly470Glu)	COL4A3, MFF-DT (G470E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 932709	NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg)	COL4A3, MFF-DT (G484R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 254982	NM_000091.5(COL4A3):c.1452G>A (p.Gly484=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +5 more	GBenign/Likely benign
Select item 988108	NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg)	COL4A3, MFF-DT (G490R)	Single nucleotide variant (missense variant)	COL4A3-related disorder +3 more	GLikely pathogenic
Select item 795485	NM_000091.5(COL4A3):c.1539A>C (p.Pro513=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +3 more	GLikely benign
Select item 1501517	NM_000091.5(COL4A3):c.1594G>A (p.Gly532Ser)	COL4A3, MFF-DT (G532S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 838332	NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg)	COL4A3, MFF-DT (G557R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1011107	NM_000091.5(COL4A3):c.1792C>G (p.Pro598Ala)	COL4A3, MFF-DT (P598A)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GUncertain significance
Select item 897873	NM_000091.5(COL4A3):c.1802C>T (p.Pro601Leu)	COL4A3, MFF-DT (P601L)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1372591	NM_000091.5(COL4A3):c.1856G>A (p.Gly619Glu)	COL4A3, MFF-DT (G619E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GUncertain significance
Select item 1120404	NM_000091.5(COL4A3):c.1860C>T (p.Pro620=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1150425	NM_000091.5(COL4A3):c.1875T>C (p.Gly625=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 795512	NM_000091.5(COL4A3):c.1908C>T (p.Pro636=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +3 more	GLikely benign
Select item 765175	NM_000091.5(COL4A3):c.1917C>T (p.Pro639=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1421447	NM_000091.5(COL4A3):c.1926C>T (p.Ala642=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +3 more	GUncertain significance
Select item 750180	NM_000091.5(COL4A3):c.1944C>T (p.Leu648=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +3 more	GLikely benign
Select item 1305780	NM_000091.5(COL4A3):c.1970C>T (p.Pro657Leu)	COL4A3, MFF-DT (P657L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1048647	NM_000091.5(COL4A3):c.1987C>T (p.Pro663Ser)	COL4A3, MFF-DT (P663S)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +2 more	GUncertain significance
Select item 1482636	NM_000091.5(COL4A3):c.2033C>A (p.Ser678Tyr)	COL4A3, MFF-DT (S678Y)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1136191	NM_000091.5(COL4A3):c.2040G>C (p.Gly680=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +3 more	GLikely benign
Select item 1179094	NM_000091.5(COL4A3):c.2048G>A (p.Gly683Glu)	COL4A3, MFF-DT (G683E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1405877	NM_000091.5(COL4A3):c.2054C>T (p.Pro685Leu)	COL4A3, MFF-DT (P685L)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +4 more	GUncertain significance
Select item 369964	NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)	COL4A3, MFF-DT (G695R)	Single nucleotide variant (missense variant)	not specified +5 more	GPathogenic/Likely pathogenic
Select item 369945	NM_000091.5(COL4A3):c.2115T>A (p.Pro705=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1573014	NM_000091.5(COL4A3):c.2125+14T>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal dominant Alport syndrome +3 more	GLikely benign
Select item 371670	NM_000091.5(COL4A3):c.2215G>A (p.Gly739Arg)	COL4A3, MFF-DT (G739R)	Single nucleotide variant (missense variant)	Benign familial hematuria +3 more	GLikely pathogenic
Select item 556542	NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1])	COL4A3, MFF-DT	Deletion (inframe_deletion)	Autosomal dominant Alport syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1512833	NM_000091.5(COL4A3):c.2330G>T (p.Gly777Val)	COL4A3, MFF-DT (G777V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GPathogenic/Likely pathogenic
Select item 397514	NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter)	MFF-DT, COL4A3 (R791*)	Single nucleotide variant (nonsense)	Autosomal dominant Alport syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1627511	NM_000091.5(COL4A3):c.2375-18T>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal dominant Alport syndrome +3 more	GLikely benign
Select item 755828	NM_000091.5(COL4A3):c.2391T>C (p.Pro797=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1216278	NM_000091.5(COL4A3):c.2489-18T>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1088830	NM_000091.5(COL4A3):c.2489-9C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal dominant Alport syndrome +3 more	GLikely benign
Select item 1161789	NM_000091.5(COL4A3):c.2489-5C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 553278	NM_000091.5(COL4A3):c.2535del (p.Leu846fs)	COL4A3, MFF-DT (L846fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 870355	NM_000091.5(COL4A3):c.2621del (p.Gly874fs)	COL4A3, MFF-DT (G874fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome +2 more	GLikely pathogenic
Select item 551951	NM_000091.5(COL4A3):c.2621_2622delinsT (p.Gly874fs)	MFF-DT, COL4A3 (G874fs)	Indel (frameshift variant)	Autosomal dominant Alport syndrome +3 more	GPathogenic
Select item 829979	NM_000091.5(COL4A3):c.2636C>T (p.Pro879Leu)	COL4A3, MFF-DT (P879L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1077660	NM_000091.5(COL4A3):c.2637G>A (p.Pro879=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +3 more	GLikely benign

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