"GeneDx"[submitter] AND "COL4A1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 152824	GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3	LOC130010172, LOC130010173 +367 more	Copy number gain	See cases	GPathogenic
Select item 57685	GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1	GAS6-AS1, GAS6-DT +363 more	Copy number loss	See cases	GPathogenic
Select item 57709	GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 57710	GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 2785505	NM_001845.6(COL4A1):c.5003G>C (p.Arg1668Thr)	COL4A1 (R1668T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663470	NM_001845.6(COL4A1):c.5003G>A (p.Arg1668Lys)	COL4A1 (R1668K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451373	NM_001845.6(COL4A1):c.4996A>G (p.Met1666Val)	COL4A1 (M1666V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316354	NM_001845.6(COL4A1):c.4970C>T (p.Thr1657Met)	COL4A1 (T1657M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1004088	NM_001845.6(COL4A1):c.4967G>A (p.Arg1656His)	COL4A1 (R1656H)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more	GUncertain significance
Select item 2442573	NM_001845.6(COL4A1):c.4966C>A (p.Arg1656Ser)	COL4A1 (R1656S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319044	NM_001845.6(COL4A1):c.4966C>T (p.Arg1656Cys)	COL4A1 (R1656C)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1317097	NM_001845.6(COL4A1):c.4961A>T (p.Glu1654Val)	COL4A1 (E1654V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316473	NM_001845.6(COL4A1):c.4949T>C (p.Leu1650Ser)	COL4A1 (L1650S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 311019	NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=)	COL4A1	Single nucleotide variant (synonymous variant)	Porencephalic cyst +6 more	GBenign/Likely benign
Select item 1195475	NM_001845.6(COL4A1):c.4929-300T>C	COL4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295668	NM_001845.6(COL4A1):c.4928+226C>T	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215564	NM_001845.6(COL4A1):c.4928+205A>G	COL4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208690	NM_001845.6(COL4A1):c.4928+154G>A	COL4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1255062	NM_001845.6(COL4A1):c.4928+68G>A	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2187699	NM_001845.6(COL4A1):c.4927A>C (p.Lys1643Gln)	COL4A1 (K1643Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2192165	NM_001845.6(COL4A1):c.4918G>A (p.Glu1640Lys)	COL4A1 (E1640K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331282	NM_001845.6(COL4A1):c.4888A>T (p.Ser1630Cys)	COL4A1 (S1630C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342725	NM_001845.6(COL4A1):c.4881C>T (p.Asn1627=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085661	NM_001845.6(COL4A1):c.4877C>G (p.Ala1626Gly)	COL4A1 (A1626G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495572	NM_001845.6(COL4A1):c.4856G>A (p.Arg1619His)	COL4A1 (R1619H)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1712813	NM_001845.6(COL4A1):c.4852G>A (p.Gly1618Ser)	COL4A1 (G1618S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 258260	NM_001845.6(COL4A1):c.4800C>T (p.Ser1600=)	COL4A1	Single nucleotide variant (synonymous variant)	Brain small vessel disease 1 with or without ocular anomalies +3 more	GBenign
Select item 258259	NM_001845.6(COL4A1):c.4797G>A (p.Ala1599=)	COL4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +3 more	GBenign/Likely benign
Select item 1317267	NM_001845.6(COL4A1):c.4756-22_4756-5dup	COL4A1	Duplication (intron variant)	Hemorrhage, intracerebral, susceptibility to +5 more	GLikely benign
Select item 1192165	NM_001845.6(COL4A1):c.4756-59T>A	COL4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179523	NM_001845.6(COL4A1):c.4756-113G>T	COL4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198121	NM_001845.6(COL4A1):c.4756-184G>T	COL4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269380	NM_001845.6(COL4A1):c.4756-209C>T	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224852	NM_001845.6(COL4A1):c.4755+170C>T	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270447	NM_001845.6(COL4A1):c.4755+156A>G	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195371	NM_001845.6(COL4A1):c.4755+153C>G	COL4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227594	NM_001845.6(COL4A1):c.4755+134A>G	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181462	NM_001845.6(COL4A1):c.4755+60G>C	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2440304	NM_001845.6(COL4A1):c.4718G>C (p.Gly1573Ala)	COL4A1 (G1573A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429685	NM_001845.6(COL4A1):c.4712C>A (p.Pro1571His)	COL4A1 (P1571H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581754	NM_001845.6(COL4A1):c.4652G>A (p.Cys1551Tyr)	COL4A1 (C1551Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1298231	NM_001845.6(COL4A1):c.4641-32G>A	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211175	NM_001845.6(COL4A1):c.4641-191C>T	COL4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174312	NM_001845.6(COL4A1):c.4640+300C>T	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181823	NM_001845.6(COL4A1):c.4640+294C>T	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262766	NM_001845.6(COL4A1):c.4640+231C>T	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245472	NM_001845.6(COL4A1):c.4640+51C>T	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 258256	NM_001845.6(COL4A1):c.4640+16G>A	COL4A1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 258257	NM_001845.6(COL4A1):c.4640+7C>T	COL4A1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 506762	NM_001845.6(COL4A1):c.4640+3G>T	COL4A1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2661989	NM_001845.6(COL4A1):c.4597A>G (p.Met1533Val)	COL4A1 (M1533V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507075	NM_001845.6(COL4A1):c.4588C>T (p.Pro1530Ser)	COL4A1 (P1530S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 427116	NM_001845.6(COL4A1):c.4583C>T (p.Pro1528Leu)	COL4A1 (P1528L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1317324	NM_001845.6(COL4A1):c.4573A>G (p.Thr1525Ala)	COL4A1 (T1525A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501874	NM_001845.6(COL4A1):c.4553A>G (p.Asp1518Gly)	COL4A1 (D1518G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2156108	NM_001845.6(COL4A1):c.4484G>A (p.Arg1495His)	COL4A1 (R1495H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126710	NM_001845.6(COL4A1):c.4471G>T (p.Gly1491Cys)	COL4A1 (G1491C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 258255	NM_001845.6(COL4A1):c.4470C>T (p.Ala1490=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 1253234	NM_001845.6(COL4A1):c.4463-275G>T	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253911	NM_001845.6(COL4A1):c.4463-299_4463-298dup	COL4A1	Duplication (intron variant)	not provided	GBenign
Select item 1292898	NM_001845.6(COL4A1):c.4462+237A>G	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264214	NM_001845.6(COL4A1):c.4462+151C>T	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2446179	NM_001845.6(COL4A1):c.4454A>G (p.Gln1485Arg)	COL4A1 (Q1485R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 311022	NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln)	COL4A1 (R1481Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 311023	NM_001845.6(COL4A1):c.4441C>T (p.Arg1481Trp)	COL4A1 (R1481W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1327679	NM_001845.6(COL4A1):c.4434C>T (p.Gly1478=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1318736	NM_001845.6(COL4A1):c.4424A>T (p.Tyr1475Phe)	COL4A1 (Y1475F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1489793	NM_001845.6(COL4A1):c.4423T>C (p.Tyr1475His)	COL4A1 (Y1475H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1316462	NM_001845.6(COL4A1):c.4408G>T (p.Gly1470Trp)	COL4A1 (G1470W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373519	NM_001845.6(COL4A1):c.4388G>A (p.Gly1463Glu)	COL4A1 (G1463E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319024	NM_001845.6(COL4A1):c.4354A>G (p.Ser1452Gly)	COL4A1 (S1452G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578196	NM_001845.6(COL4A1):c.4352A>G (p.His1451Arg)	COL4A1 (H1451R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373267	NM_001845.6(COL4A1):c.4257A>C (p.Arg1419Ser)	COL4A1 (R1419S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1248472	NM_001845.6(COL4A1):c.4250-43C>T	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292897	NM_001845.6(COL4A1):c.4250-134T>C	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231553	NM_001845.6(COL4A1):c.4249+137G>C	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316941	NM_001845.6(COL4A1):c.4235C>A (p.Pro1412His)	COL4A1 (P1412H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 311026	NM_001845.6(COL4A1):c.4229T>C (p.Met1410Thr)	COL4A1 (M1410T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2576866	NM_001845.6(COL4A1):c.4216C>A (p.Gln1406Lys)	COL4A1 (Q1406K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675257	NM_001845.6(COL4A1):c.4204G>A (p.Gly1402Ser)	COL4A1 (G1402S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 707353	NM_001845.6(COL4A1):c.4203C>T (p.Asp1401=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3371252	NM_001845.6(COL4A1):c.4184C>T (p.Pro1395Leu)	COL4A1 (P1395L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1229200	NM_001845.6(COL4A1):c.4151-165del	COL4A1	Deletion (intron variant)	not provided	GBenign
Select item 1247615	NM_001845.6(COL4A1):c.4151-189C>G	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211535	NM_001845.6(COL4A1):c.4151-199T>A	COL4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229080	NM_001845.6(COL4A1):c.4151-235G>A	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259981	NM_001845.6(COL4A1):c.4150+302C>T	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293410	NM_001845.6(COL4A1):c.4150+201del	COL4A1	Deletion (intron variant)	not provided	GBenign
Select item 1217362	NM_001845.6(COL4A1):c.4150+38C>G	COL4A1	Single nucleotide variant (intron variant)	Brain small vessel disease 1 with or without ocular anomalies +2 more	GBenign
Select item 3342451	NM_001845.6(COL4A1):c.4133G>A (p.Gly1378Asp)	COL4A1 (G1378D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1320424	NM_001845.6(COL4A1):c.4049G>A (p.Gly1350Asp)	COL4A1 (G1350D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340817	NM_001845.6(COL4A1):c.4046del (p.Pro1349fs)	COL4A1 (P1349fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 872457	NM_001845.6(COL4A1):c.4045C>T (p.Pro1349Ser)	COL4A1 (P1349S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1933117	NM_001845.6(COL4A1):c.4036C>T (p.Pro1346Ser)	COL4A1 (P1346S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1259460	NM_001845.6(COL4A1):c.4022-304T>C	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234001	NM_001845.6(COL4A1):c.4022-328T>C	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293070	NM_001845.6(COL4A1):c.4021+247G>C	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 311030	NM_001845.6(COL4A1):c.4010C>T (p.Pro1337Leu)	COL4A1 (P1337L)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +2 more	GConflicting classifications of pathogenicity
Select item 311031	NM_001845.6(COL4A1):c.4005C>T (p.Gly1335=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign

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