"GeneDx"[submitter] AND "COL4A2-AS2"[gene] - ClinVar

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Items: 51

	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 1277278	NM_001846.4(COL4A2):c.1340-281G>C	COL4A2, COL4A2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1251338	NM_001846.4(COL4A2):c.1340-229_1340-228insCCCCAGGCGTCCGTGGGGCTGATGCCGTGCG	COL4A2, COL4A2-AS2	Insertion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1248635	NM_001846.4(COL4A2):c.1340-229A>G	COL4A2, COL4A2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1275047	NM_001846.4(COL4A2):c.1340-114G>C	COL4A2, COL4A2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1276083	NM_001846.4(COL4A2):c.1340-72G>C	COL4A2, COL4A2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1198629	NM_001846.4(COL4A2):c.1340-62_1340-21dup	COL4A2, COL4A2-AS2	Duplication (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1190694	NM_001846.4(COL4A2):c.1340-21_1340-20insGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTCATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTCATGCCCTGC	COL4A2, COL4A2-AS2	Microsatellite (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1213127	NM_001846.4(COL4A2):c.1340-20A>C	COL4A2, COL4A2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2428990	NM_001846.4(COL4A2):c.1395del (p.Gly466fs)	COL4A2, COL4A2-AS2 (G466fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 452055	NM_001846.4(COL4A2):c.1414G>A (p.Gly472Arg)	COL4A2, COL4A2-AS2 (G472R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1249370	NM_001846.4(COL4A2):c.1432+77A>G	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271299	NM_001846.4(COL4A2):c.1432+100A>G	COL4A2, COL4A2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1231828	NM_001846.4(COL4A2):c.1432+178T>C	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192091	NM_001846.4(COL4A2):c.1432+213G>A	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277369	NM_001846.4(COL4A2):c.1432+238C>T	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242497	NM_001846.4(COL4A2):c.1432+279C>T	COL4A2, COL4A2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1260626	NM_001846.4(COL4A2):c.1433-302C>A	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221058	NM_001846.4(COL4A2):c.1433-285G>A	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260839	NM_001846.4(COL4A2):c.1433-95T>C	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291185	NM_001846.4(COL4A2):c.1433-75G>A	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237363	NM_001846.4(COL4A2):c.1433-53G>A	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1315957	NM_001846.4(COL4A2):c.1483C>A (p.Leu495Ile)	COL4A2, COL4A2-AS2 (L495I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 311128	NM_001846.4(COL4A2):c.1488G>A (p.Pro496=)	COL4A2, COL4A2-AS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 311129	NM_001846.4(COL4A2):c.1550G>A (p.Arg517Lys)	COL4A2, COL4A2-AS2 (R517K)	Single nucleotide variant (missense variant)	Porencephaly 2 +1 more	GBenign
Select item 3363631	NM_001846.4(COL4A2):c.1577C>T (p.Pro526Leu)	COL4A2, COL4A2-AS2 (P526L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1275936	NM_001846.4(COL4A2):c.1596+33A>G	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293755	NM_001846.4(COL4A2):c.1596+101G>A	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177870	NM_001846.4(COL4A2):c.1596+174T>C	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179939	NM_001846.4(COL4A2):c.1596+216G>A	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293751	NM_001846.4(COL4A2):c.1597-285C>A	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178689	NM_001846.4(COL4A2):c.1597-284C>A	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194208	NM_001846.4(COL4A2):c.1597-145C>T	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1469256	NM_001846.4(COL4A2):c.1645G>A (p.Asp549Asn)	COL4A2, COL4A2-AS2 (D549N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 311130	NM_001846.4(COL4A2):c.1655C>A (p.Thr552Lys)	COL4A2, COL4A2-AS2 (T552K)	Single nucleotide variant (missense variant)	Porencephaly 2 +1 more	GBenign/Likely benign
Select item 1316867	NM_001846.4(COL4A2):c.1658T>C (p.Ile553Thr)	COL4A2, COL4A2-AS2 (I553T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580824	NM_001846.4(COL4A2):c.1663A>C (p.Thr555Pro)	COL4A2, COL4A2-AS2 (T555P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1232743	NM_001846.4(COL4A2):c.1669+21G>A	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2189518	NM_001846.4(COL4A2):c.1690G>A (p.Val564Ile)	COL4A2-AS2, COL4A2 (V564I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2114481	NM_001846.4(COL4A2):c.1697G>T (p.Gly566Val)	COL4A2, COL4A2-AS2 (G566V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426788	NM_001846.4(COL4A2):c.1727G>A (p.Ser576Asn)	COL4A2, COL4A2-AS2 (S576N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500401	NM_001846.4(COL4A2):c.1762C>T (p.Leu588Phe)	COL4A2, COL4A2-AS2 (L588F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451785	NM_001846.4(COL4A2):c.1776+1G>T	COL4A2, COL4A2-AS2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 265530	NM_001846.4(COL4A2):c.1776+1G>A	COL4A2, COL4A2-AS2	Single nucleotide variant (splice donor variant)	COL4A2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1224869	NM_001846.4(COL4A2):c.1776+189A>G	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240516	NM_001846.4(COL4A2):c.1776+232G>T	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276140	NM_001846.4(COL4A2):c.1776+282A>G	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 51