COL4A3[gene] and "single gene"[properties] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 334748	NM_000091.4(COL4A3):c.-146G>C	COL4A3	Single nucleotide variant	Alport syndrome	GUncertain significance
Select item 334749	NM_000091.4(COL4A3):c.-134T>C	COL4A3	Single nucleotide variant	Alport syndrome	GUncertain significance
Select item 334750	NM_000091.5(COL4A3):c.-81G>C	COL4A3	Single nucleotide variant (5 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 3247441	NC_000002.11:g.(?_228165686)_(228172483_?)dup	COL4A3	Duplication	not provided	GLikely pathogenic
Select item 3247440	NC_000002.11:g.(?_228096705)_(228104906_?)del	COL4A3	Deletion	not provided	GLikely pathogenic
Select item 3247439	NC_000002.11:g.(?_228113139)_(228118910_?)del	COL4A3	Deletion	not provided	GPathogenic
Select item 3247438	NC_000002.11:g.(?_228153846)_(228160052_?)del	COL4A3	Deletion	not provided	GPathogenic
Select item 3247437	NC_000002.11:g.(?_228142145)_(228149081_?)del	COL4A3	Deletion	not provided	GUncertain significance
Select item 3247436	NC_000002.11:g.(?_228120722)_(228121132_?)del	COL4A3	Deletion	not provided	GPathogenic
Select item 2422343	NC_000002.11:g.(?_228141081)_(228142289_?)dup	COL4A3	Duplication	not provided	GUncertain significance
Select item 2422342	NC_000002.11:g.(?_228029443)_(228029549_?)dup	COL4A3	Duplication	not provided	GUncertain significance
Select item 2422341	NC_000002.11:g.(?_228117992)_(228124613_?)del	COL4A3	Deletion	not provided	GPathogenic
Select item 1526957	GRCh37/hg19 2q36.3(chr2:228099222-228185228)x1	COL4A3	Copy number loss	not specified	GPathogenic
Select item 1509855	NC_000002.11:g.(?_228104839)_(228112320_?)dup	COL4A3	Duplication	not provided	GUncertain significance
Select item 1460304	NC_000002.11:g.(?_228128486)_(228128670_?)del	COL4A3	Deletion	not provided	GPathogenic
Select item 1459525	NC_000002.11:g.(?_228162380)_(228163538_?)del	COL4A3	Deletion	not provided	GPathogenic
Select item 1457042	NC_000002.11:g.(?_228029443)_(228176586_?)del	COL4A3	Deletion	not provided	GPathogenic
Select item 1454508	NC_000002.11:g.(?_228137645)_(228137853_?)del	COL4A3	Deletion	not provided	GPathogenic
Select item 1408974	NC_000002.11:g.(?_228104839)_(228104968_?)del	COL4A3	Deletion	not provided	GUncertain significance
Select item 1398570	NC_000002.11:g.(?_228029443)_(228176586_?)dup	COL4A3	Duplication	not provided	GUncertain significance
Select item 1372077	NC_000002.11:g.(?_228115836)_(228116107_?)del	COL4A3	Deletion	not provided	GUncertain significance
Select item 1346589	NC_000002.11:g.(?_228142145)_(228142289_?)del	COL4A3	Deletion	not provided	GLikely pathogenic
Select item 1074657	NC_000002.11:g.(?_228102664)_(228176586_?)del	COL4A3	Deletion	not provided	GPathogenic
Select item 1055707	NC_000002.11:g.(?_228120742)_(228121112_?)del	COL4A3	Deletion	not provided	GPathogenic
Select item 871367	GRCh37/hg19 2q36.3(chr2:228167754-228169799)x1	COL4A3	Copy number loss	not provided	GLikely pathogenic
Select item 832672	NC_000002.12:g.(?_227272939)_(227280600_?)del	COL4A3	Deletion	not provided	GPathogenic
Select item 831102	NC_000002.12:g.(?_227303028)_(227305093_?)dup	COL4A3	Duplication	not provided	GPathogenic
Select item 814372	GRCh37/hg19 2q36.3(chr2:228093192-228185228)x1	COL4A3	Copy number loss	not provided	GUncertain significance
Select item 813846	GRCh37/hg19 2q36.3(chr2:228128781-228177755)x1	COL4A3	Copy number loss	Global developmental delay	GLikely benign
Select item 813304	GRCh37/hg19 2q36.3(chr2:228167754-228169799)	COL4A3	Copy number loss	Autosomal recessive Alport syndrome	GPathogenic

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Items: 30