"GABBR2-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1257809	NM_005458.8(GABBR2):c.*7G>A	GABBR2	Single nucleotide variant (3 prime UTR variant)	GABBR2-related disorder +1 more	GBenign/Likely benign
Select item 1123252	NM_005458.8(GABBR2):c.2466G>A (p.Lys822=)	GABBR2	Single nucleotide variant (synonymous variant)	GABBR2-related disorder +2 more	GLikely benign
Select item 1248924	NM_005458.8(GABBR2):c.2318C>T (p.Thr773Met)	GABBR2 (T773M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1117485	NM_005458.8(GABBR2):c.2229+9G>A	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 741721	NM_005458.8(GABBR2):c.1977C>T (p.Ile659=)	GABBR2	Single nucleotide variant (synonymous variant)	GABBR2-related disorder +2 more	GBenign/Likely benign
Select item 531095	NM_005458.8(GABBR2):c.1894-10_1894-9del	GABBR2	Microsatellite (intron variant)	Epileptic encephalopathy +2 more	GLikely benign
Select item 531115	NM_005458.8(GABBR2):c.1771-9G>A	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy +2 more	GLikely benign
Select item 1149623	NM_005458.8(GABBR2):c.1737C>T (p.His579=)	GABBR2	Single nucleotide variant (synonymous variant)	GABBR2-related disorder +1 more	GLikely benign
Select item 446211	NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr)	GABBR2 (A567T)	Single nucleotide variant (missense variant)	Rett syndrome +5 more	GPathogenic
Select item 778949	NM_005458.8(GABBR2):c.1662C>T (p.Thr554=)	GABBR2	Single nucleotide variant (synonymous variant)	GABBR2-related disorder +2 more	GBenign/Likely benign
Select item 462124	NM_005458.8(GABBR2):c.1473C>T (p.Leu491=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +2 more	GBenign/Likely benign
Select item 1084765	NM_005458.8(GABBR2):c.1071C>T (p.Tyr357=)	GABBR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1190576	NM_005458.8(GABBR2):c.894C>T (p.Asn298=)	GABBR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1447802	NM_005458.8(GABBR2):c.859C>A (p.Pro287Thr)	GABBR2 (P287T)	Single nucleotide variant (missense variant)	GABBR2-related disorder +1 more	GUncertain significance
Select item 531004	NM_005458.8(GABBR2):c.599C>T (p.Thr200Met)	GABBR2 (T200M)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GBenign/Likely benign
Select item 580388	NM_005458.8(GABBR2):c.399C>T (p.Gly133=)	GABBR2	Single nucleotide variant (synonymous variant)	GABBR2-related disorder +1 more	GBenign/Likely benign