COL4A2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	LOC124946344, LOC124946345 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130010101, LOC130010102 +705 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	ABCC4, ABHD13 +663 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	ABCC4, ABHD13 +638 more	Copy number gain	See cases	GPathogenic
Select item 150125	GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3	LOC130010039, LOC130010040 +369 more	Copy number gain	See cases	GPathogenic
Select item 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	DOCK9-DT, EFNB2 +544 more	Copy number gain	See cases	GPathogenic
Select item 2579261	GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1	ABHD13, ANKRD10 +342 more	Copy number loss	Holoprosencephaly 5	GPathogenic
Select item 59921	GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3	ABHD13, ADPRHL1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 57684	GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1	ABHD13, ADPRHL1 +369 more	Copy number loss	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 147642	GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3	ABHD13, ADPRHL1 +360 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 148757	GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1	LOC121468007, LOC121838584 +339 more	Copy number loss	See cases	GPathogenic
Select item 155034	GRCh38/hg38 13q33.1-34(chr13:103914488-110857896)x3	LINC00399, LINC00443 +152 more	Copy number gain	See cases	GUncertain significance
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 155263	GRCh38/hg38 13q33.2-34(chr13:104968135-114340331)x1	ABHD13, ADPRHL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 155489	GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3	ABHD13, ADPRHL1 +325 more	Copy number gain	See cases	GUncertain significance
Select item 151756	GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1	LOC116268457, LOC121468007 +321 more	Copy number loss	See cases	GPathogenic
Select item 57712	GRCh38/hg38 13q33.2-34(chr13:106043720-110366226)x1	ABHD13, ARGLU1 +90 more	Copy number loss	See cases	GPathogenic
Select item 57471	GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1	ABHD13, ADPRHL1 +318 more	Copy number loss	See cases	GPathogenic
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010165, LOC130010166 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 148614	GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1	ABHD13, ADPRHL1 +302 more	Copy number loss	See cases	GPathogenic
Select item 152966	GRCh38/hg38 13q33.3-34(chr13:107708655-112101112)x1	LOC130010121, LOC130010122 +156 more	Copy number loss	See cases	GPathogenic
Select item 161056	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 33799	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 56998	GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1	ADPRHL1, ANKRD10 +271 more	Copy number loss	See cases	GPathogenic
Select item 1338738	NC_000013.11:g.109179481_114327244del	LOC130010213, LOC130010214 +261 more	Deletion	Factor VII deficiency +1 more	GPathogenic
Select item 1707468	Single allele	COL4A1, COL4A2 +27 more	Duplication	not specified	GUncertain significance
Select item 147436	GRCh38/hg38 13q34(chr13:109862835-110921746)x3	ANKRD10, ANKRD10-IT1 +73 more	Copy number gain	See cases	GUncertain significance
Select item 193216	NM_001845.6(COL4A1):c.19G>C (p.Val7Leu)	COL4A2, COL4A1 (V7L)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 1974218	NM_001845.6(COL4A1):c.5G>A (p.Gly2Glu)	COL4A1, COL4A2 (G2E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 311084	NM_001845.6(COL4A1):c.-13C>G	COL4A1, COL4A2	Single nucleotide variant (5 prime UTR variant)	Porencephalic cyst +2 more	GLikely benign
Select item 311087	NM_001845.6(COL4A1):c.-90G>T	COL4A1, COL4A2	Single nucleotide variant (5 prime UTR variant)	Porencephalic cyst +3 more	GBenign
Select item 881061	NM_001846.4(COL4A2):c.-277A>G	COL4A2	Single nucleotide variant (5 prime UTR variant)	Porencephaly 2	GUncertain significance
Select item 311089	NM_001846.4(COL4A2):c.-277A>C	COL4A1, COL4A2	Single nucleotide variant (5 prime UTR variant)	Porencephaly 2 +4 more	GBenign
Select item 881521	NM_001846.4(COL4A2):c.-241C>T	COL4A2	Single nucleotide variant (5 prime UTR variant)	Porencephaly 2	GUncertain significance
Select item 311090	NM_001846.4(COL4A2):c.-232C>G	COL4A1, COL4A2	Single nucleotide variant (5 prime UTR variant)	not provided +4 more	GBenign
Select item 881522	NM_001846.4(COL4A2):c.-220C>T	COL4A2	Single nucleotide variant (5 prime UTR variant)	Porencephaly 2	GUncertain significance
Select item 881523	NM_001846.4(COL4A2):c.-215C>A	COL4A2	Single nucleotide variant (5 prime UTR variant)	Porencephaly 2	GBenign
Select item 311091	NM_001846.4(COL4A2):c.-215C>T	COL4A1, COL4A2	Single nucleotide variant (5 prime UTR variant)	Brain small vessel disease 1 with or without ocular anomalies +4 more	GBenign
Select item 311092	NM_001846.4(COL4A2):c.-203T>C	COL4A1, COL4A2	Single nucleotide variant (5 prime UTR variant)	Porencephalic cyst +4 more	GBenign
Select item 311093	NM_001846.4(COL4A2):c.-133A>G	COL4A2, COL4A1	Single nucleotide variant (5 prime UTR variant)	Porencephalic cyst +4 more	GBenign
Select item 882683	NM_001846.4(COL4A2):c.-117C>T	COL4A2	Single nucleotide variant (5 prime UTR variant)	Porencephaly 2	GUncertain significance
Select item 311094	NM_001846.4(COL4A2):c.-101G>A	COL4A1, COL4A2	Single nucleotide variant (5 prime UTR variant)	Porencephaly 2 +4 more	GLikely benign
Select item 882684	NM_001846.4(COL4A2):c.-87G>A	COL4A2	Single nucleotide variant (5 prime UTR variant)	Porencephaly 2 +1 more	GConflicting classifications of pathogenicity
Select item 882685	NM_001846.4(COL4A2):c.-77G>A	COL4A2	Single nucleotide variant (5 prime UTR variant)	Porencephaly 2	GUncertain significance
Select item 1272966	NM_001846.4(COL4A2):c.-44-163G>C	COL4A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189984	NM_001846.4(COL4A2):c.-44-140G>C	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226919	NM_001846.4(COL4A2):c.-44-43C>T	COL4A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 311095	NM_001846.4(COL4A2):c.-44-5T>C	COL4A2	Single nucleotide variant (intron variant)	Porencephaly 2	GUncertain significance
Select item 1316039	NM_001846.4(COL4A2):c.-44-1G>C	COL4A2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3357493	NM_001846.4(COL4A2):c.4G>A (p.Gly2Arg)	COL4A2 (G2R)	Single nucleotide variant (missense variant)	COL4A2-related disorder	GUncertain significance
Select item 1431677	NM_001846.4(COL4A2):c.4G>C (p.Gly2Arg)	COL4A2 (G2R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978164	NM_001846.4(COL4A2):c.6G>T (p.Gly2=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3373381	NM_001846.4(COL4A2):c.10G>A (p.Asp4Asn)	COL4A2 (D4N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851562	NM_001846.4(COL4A2):c.28G>A (p.Gly10Ser)	COL4A2 (G10S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2233031	NM_001846.4(COL4A2):c.37C>G (p.Leu13Val)	COL4A2 (L13V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2807829	NM_001846.4(COL4A2):c.39A>G (p.Leu13=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2184207	NM_001846.4(COL4A2):c.44+9C>T	COL4A2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2177716	NM_001846.4(COL4A2):c.44+10T>C	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1562270	NM_001846.4(COL4A2):c.44+10T>A	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987484	NM_001846.4(COL4A2):c.44+15G>T	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268588	NM_001846.4(COL4A2):c.45-44C>T	COL4A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1567493	NM_001846.4(COL4A2):c.45-17C>T	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1953144	NM_001846.4(COL4A2):c.45-8C>T	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2504373	NM_001846.4(COL4A2):c.45-1G>A	COL4A2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 996939	NM_001846.4(COL4A2):c.49C>G (p.Leu17Val)	COL4A2 (L17V)	Single nucleotide variant (missense variant)	Porencephaly 2 +2 more	GConflicting classifications of pathogenicity
Select item 882686	NM_001846.4(COL4A2):c.49C>T (p.Leu17=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2167128	NM_001846.4(COL4A2):c.55C>T (p.Leu19=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984709	NM_001846.4(COL4A2):c.60G>T (p.Gly20=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3147587	NM_001846.4(COL4A2):c.67A>G (p.Thr23Ala)	COL4A2 (T23A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1620977	NM_001846.4(COL4A2):c.69C>T (p.Thr23=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1487475	NM_001846.4(COL4A2):c.82G>A (p.Ala28Thr)	COL4A2 (A28T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123199	NM_001846.4(COL4A2):c.83C>T (p.Ala28Val)	COL4A2 (A28V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2542998	NM_001846.4(COL4A2):c.89G>A (p.Ser30Asn)	COL4A2 (S30N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2141168	NM_001846.4(COL4A2):c.92T>C (p.Val31Ala)	COL4A2 (V31A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1435266	NM_001846.4(COL4A2):c.99+4A>G	COL4A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1585272	NM_001846.4(COL4A2):c.99+7C>G	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600882	NM_001846.4(COL4A2):c.99+16C>T	COL4A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2018634	NM_001846.4(COL4A2):c.99+19G>T	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224954	NM_001846.4(COL4A2):c.99+215T>C	COL4A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254326	NM_001846.4(COL4A2):c.99+242A>G	COL4A1, COL4A2	Single nucleotide variant (intron variant)	not provided	GBenign

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