COL4A2-AS1[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 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 147436	GRCh38/hg38 13q34(chr13:109862835-110921746)x3	ANKRD10, ANKRD10-IT1 +73 more	Copy number gain	See cases	GUncertain significance
Select item 1244807	NM_001846.4(COL4A2):c.3878-309G>A	COL4A2, COL4A2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1227273	NM_001846.4(COL4A2):c.3878-238G>T	COL4A2, COL4A2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1235350	NM_001846.4(COL4A2):c.3878-197T>C	COL4A2, COL4A2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1250227	NM_001846.4(COL4A2):c.3878-105G>A	COL4A2, COL4A2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222768	NM_001846.4(COL4A2):c.3878-40C>T	COL4A2, COL4A2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1969530	NM_001846.4(COL4A2):c.3878-3C>T	COL4A2, COL4A2-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1352073	NM_001846.4(COL4A2):c.3882_3891dup (p.Pro1298fs)	COL4A2, COL4A2-AS1 (P1298fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 722398	NM_001846.4(COL4A2):c.3883C>T (p.Arg1295Trp)	COL4A2, COL4A2-AS1 (R1295W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2370040	NM_001846.4(COL4A2):c.3884G>A (p.Arg1295Gln)	COL4A2, COL4A2-AS1 (R1295Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2494433	NM_001846.4(COL4A2):c.3892C>A (p.Pro1298Thr)	COL4A2, COL4A2-AS1 (P1298T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1343253	NM_001846.4(COL4A2):c.3896G>A (p.Gly1299Glu)	COL4A2, COL4A2-AS1 (G1299E)	Single nucleotide variant (missense variant)	Porencephaly 2	GUncertain significance
Select item 311169	NM_001846.4(COL4A2):c.3915T>C (p.Ala1305=)	COL4A2, COL4A2-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3353865	NM_001846.4(COL4A2):c.3916C>T (p.Leu1306Phe)	COL4A2, COL4A2-AS1 (L1306F)	Single nucleotide variant (missense variant)	COL4A2-related disorder	GUncertain significance
Select item 392751	NM_001846.4(COL4A2):c.3920C>G (p.Pro1307Arg)	COL4A2, COL4A2-AS1 (P1307R)	Single nucleotide variant (missense variant)	Porencephaly 2 +2 more	GBenign/Likely benign
Select item 2989829	NM_001846.4(COL4A2):c.3958G>C (p.Gly1320Arg)	COL4A2, COL4A2-AS1 (G1320R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441869	NM_001846.4(COL4A2):c.3976G>A (p.Gly1326Arg)	COL4A2, COL4A2-AS1 (G1326R)	Single nucleotide variant (missense variant)	Porencephaly 2 +1 more	GUncertain significance
Select item 3342882	NM_001846.4(COL4A2):c.3977G>A (p.Gly1326Glu)	COL4A2, COL4A2-AS1 (G1326E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3000762	NM_001846.4(COL4A2):c.3982G>T (p.Ala1328Ser)	COL4A2, COL4A2-AS1 (A1328S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 723339	NM_001846.4(COL4A2):c.3984C>T (p.Ala1328=)	COL4A2, COL4A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1624838	NM_001846.4(COL4A2):c.3988G>A (p.Asp1330Asn)	COL4A2, COL4A2-AS1 (D1330N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 793486	NM_001846.4(COL4A2):c.3993C>T (p.Ser1331=)	COL4A2, COL4A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1650551	NM_001846.4(COL4A2):c.4005C>T (p.Gly1335=)	COL4A2, COL4A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2269841	NM_001846.4(COL4A2):c.4007G>A (p.Arg1336Lys)	COL4A2, COL4A2-AS1 (R1336K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1581822	NM_001846.4(COL4A2):c.4017G>T (p.Val1339=)	COL4A2, COL4A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 432147	NM_001846.4(COL4A2):c.4039+1G>A	COL4A2, COL4A2-AS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2871899	NM_001846.4(COL4A2):c.4039+6A>T	COL4A2, COL4A2-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1165076	NM_001846.4(COL4A2):c.4040-19C>T	COL4A2, COL4A2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1936404	NM_001846.4(COL4A2):c.4040-18G>A	COL4A2, COL4A2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 311170	NM_001846.4(COL4A2):c.4040-11_4040-8del	COL4A2, COL4A2-AS1	Microsatellite (intron variant)	Porencephalic cyst	GUncertain significance
Select item 1172813	NM_001846.4(COL4A2):c.4049G>A (p.Gly1350Asp)	COL4A2, COL4A2-AS1 (G1350D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2136177	NM_001846.4(COL4A2):c.4051G>A (p.Glu1351Lys)	COL4A2-AS1, COL4A2 (E1351K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421736	NM_001846.4(COL4A2):c.4058G>C (p.Gly1353Ala)	COL4A2, COL4A2-AS1 (G1353A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1983806	NM_001846.4(COL4A2):c.4064T>C (p.Met1355Thr)	COL4A2, COL4A2-AS1 (M1355T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1165351	NM_001846.4(COL4A2):c.4083T>C (p.Thr1361=)	COL4A2, COL4A2-AS1	Single nucleotide variant (synonymous variant)	Porencephaly 2 +1 more	GBenign
Select item 773717	NM_001846.4(COL4A2):c.4083= (p.Thr1361=)	COL4A2, COL4A2-AS1	Variation (no sequence alteration)	not provided	GBenign
Select item 828133	NM_001846.4(COL4A2):c.4084G>A (p.Gly1362Arg)	COL4A2, COL4A2-AS1 (G1362R)	Single nucleotide variant (missense variant)	Porencephaly 2	GUncertain significance
Select item 3257613	NM_001846.4(COL4A2):c.4088C>T (p.Ala1363Val)	COL4A2, COL4A2-AS1 (A1363V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1405593	NM_001846.4(COL4A2):c.4089_4090delinsAT (p.Val1364Leu)	COL4A2, COL4A2-AS1 (V1364L)	Indel (missense variant)	not provided	GUncertain significance
Select item 311171	NM_001846.4(COL4A2):c.4089G>A (p.Ala1363=)	COL4A2, COL4A2-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2770671	NM_001846.4(COL4A2):c.4095del (p.Asp1366fs)	COL4A2, COL4A2-AS1 (D1366fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1934830	NM_001846.4(COL4A2):c.4095C>T (p.Gly1365=)	COL4A2, COL4A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 311172	NM_001846.4(COL4A2):c.4096G>A (p.Asp1366Asn)	COL4A2, COL4A2-AS1 (D1366N)	Single nucleotide variant (missense variant)	Seizure +3 more	GConflicting classifications of pathogenicity
Select item 882855	NM_001846.4(COL4A2):c.4123G>A (p.Asp1375Asn)	COL4A2, COL4A2-AS1 (D1375N)	Single nucleotide variant (missense variant)	Porencephaly 2 +1 more	GConflicting classifications of pathogenicity
Select item 1966864	NM_001846.4(COL4A2):c.4126C>G (p.Pro1376Ala)	COL4A2-AS1, COL4A2 (P1376A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 689504	NM_001846.4(COL4A2):c.4129G>A (p.Gly1377Arg)	COL4A2-AS1, COL4A2 (G1377R)	Single nucleotide variant (missense variant)	Porencephaly 2	GPathogenic
Select item 2729228	NM_001846.4(COL4A2):c.4138+10C>T	COL4A2, COL4A2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642741	NM_001846.4(COL4A2):c.4138+11G>A	COL4A2, COL4A2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1622134	NM_001846.4(COL4A2):c.4138+13C>G	COL4A2, COL4A2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2968610	NM_001846.4(COL4A2):c.4138+16G>A	COL4A2, COL4A2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262019	NM_001846.4(COL4A2):c.4138+183A>C	COL4A2, COL4A2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239692	NM_001846.4(COL4A2):c.4139-173C>T	COL4A2, COL4A2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195808	NM_001846.4(COL4A2):c.4139-165G>A	COL4A2, COL4A2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212916	NM_001846.4(COL4A2):c.4139-155G>A	COL4A2, COL4A2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247396	NM_001846.4(COL4A2):c.4139-147C>G	COL4A2, COL4A2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281130	NM_001846.4(COL4A2):c.4139-41G>A	COL4A2, COL4A2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign

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