"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CTNNA2"[ge - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1335395	NM_001282597.3(CTNNA2):c.378G>A (p.Ala126=)	CTNNA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651083	NM_001282597.3(CTNNA2):c.654A>G (p.Thr218=)	CTNNA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234311	NM_001282597.3(CTNNA2):c.669C>T (p.Ala223=)	CTNNA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651084	NM_001282597.3(CTNNA2):c.1026C>G (p.Leu342=)	CTNNA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2651085	NM_178839.5(LRRTM1):c.1290G>A (p.Thr430=)	CTNNA2, LRRTM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2672821	NM_178839.5(LRRTM1):c.619G>A (p.Gly207Ser)	LRRTM1, CTNNA2 (G207S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 715219	NM_001282597.3(CTNNA2):c.1224C>T (p.Ser408=)	CTNNA2	Single nucleotide variant (synonymous variant)	CTNNA2-related disorder +1 more	GBenign/Likely benign
Select item 2651086	NM_001282597.3(CTNNA2):c.1497C>T (p.Ala499=)	CTNNA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717143	NM_001282597.3(CTNNA2):c.1599G>A (p.Val533=)	CTNNA2	Single nucleotide variant (synonymous variant)	CTNNA2-related disorder +1 more	GBenign/Likely benign
Select item 1012946	NM_001282597.3(CTNNA2):c.1809G>A (p.Pro603=)	CTNNA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 493591	GRCh37/hg19 2p12(chr2:80247964-81740468)x1	CTNNA2, LRRTM1	Copy number loss	not provided	GUncertain significance