"Genetics Department, University Hospital of Angers"[submitter] AND "A - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1170954	NM_152641.4(ARID2):c.118dup (p.Val40fs)	ARID2, LOC130007728 (V40fs)	Duplication (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 1170955	NM_152641.4(ARID2):c.400dup (p.Gln134fs)	ARID2 (Q134fs)	Duplication (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic/Likely pathogenic
Select item 1170956	NM_152641.4(ARID2):c.2401_2402del (p.Met801fs)	ARID2 (M801fs)	Microsatellite (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 1170957	NM_152641.4(ARID2):c.3301_3302insAGGT (p.Val1101fs)	ARID2 (V1101fs)	Insertion (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 448919	NM_152641.4(ARID2):c.3411_3412del (p.Gly1139fs)	ARID2 (G1139fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 1170958	NM_152641.4(ARID2):c.3814C>T (p.Arg1272Ter)	ARID2 (R1272*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 6	GPathogenic
Select item 1170959	NM_152641.4(ARID2):c.4732C>T (p.Gln1578Ter)	ARID2 (Q1578*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 6	GPathogenic
Select item 1170962	GRCh37/hg19 12q12(chr12:46150008-46321670)x1	ARID2, SCAF11	Copy number loss	Coffin-Siris syndrome 6	GPathogenic
Select item 1170961	GRCh37/hg19 12q12(chr12:46168172-46304719)x1	ARID2	Copy number loss	Coffin-Siris syndrome 6	GPathogenic
Select item 1170960	NM_152641.3:c.(705+1_706-1)_(1330+1_1331-1)del	ARID2	Deletion	Coffin-Siris syndrome 6	GPathogenic