"Ambry Genetics"[submitter] AND "COL4A2-AS2"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3147576	NM_001846.4(COL4A2):c.1343T>G (p.Phe448Cys)	COL4A2, COL4A2-AS2 (F448C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331012	NM_001846.4(COL4A2):c.1370G>A (p.Gly457Glu)	COL4A2, COL4A2-AS2 (G457E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 311126	NM_001846.4(COL4A2):c.1375G>A (p.Ala459Thr)	COL4A2, COL4A2-AS2 (A459T)	Single nucleotide variant (missense variant)	Porencephaly 2 +2 more	GBenign/Likely benign
Select item 2544721	NM_001846.4(COL4A2):c.1467C>G (p.Asp489Glu)	COL4A2, COL4A2-AS2 (D489E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1556658	NM_001846.4(COL4A2):c.1487C>T (p.Pro496Leu)	COL4A2, COL4A2-AS2 (P496L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1666598	NM_001846.4(COL4A2):c.1513G>A (p.Ala505Thr)	COL4A2-AS2, COL4A2 (A505T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 732662	NM_001846.4(COL4A2):c.1532C>T (p.Pro511Leu)	COL4A2, COL4A2-AS2 (P511L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2621349	NM_001846.4(COL4A2):c.1561G>A (p.Gly521Ser)	COL4A2, COL4A2-AS2 (G521S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493071	NM_001846.4(COL4A2):c.1570G>C (p.Gly524Arg)	COL4A2, COL4A2-AS2 (G524R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1895912	NM_001846.4(COL4A2):c.1613T>C (p.Ile538Thr)	COL4A2-AS2, COL4A2 (I538T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2608473	NM_001846.4(COL4A2):c.1705G>A (p.Gly569Arg)	COL4A2, COL4A2-AS2 (G569R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 311132	NM_001846.4(COL4A2):c.1738G>A (p.Asp580Asn)	COL4A2, COL4A2-AS2 (D580N)	Single nucleotide variant (missense variant)	Porencephaly 2 +3 more	GUncertain significance