"Daryl Scott Lab, Baylor College of Medicine"[submitter] AND "BAZ2B"[g - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 800363	NM_013450.4(BAZ2B):c.5036A>T (p.Glu1679Val)	BAZ2B (E1625V +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GPathogenic
Select item 2505366	NM_013450.4(BAZ2B):c.3075+3_3075+6del	BAZ2B	Microsatellite (splice donor variant)	BAZ2B-related disorder	GLikely pathogenic
Select item 2505365	NM_013450.4(BAZ2B):c.2152C>T (p.Leu718Phe)	BAZ2B (L655F +2 more)	Single nucleotide variant (missense variant)	BAZ2B-related disorder	GLikely pathogenic
Select item 800362	NM_013450.4(BAZ2B):c.2126G>A (p.Cys709Tyr)	BAZ2B (C646Y +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GPathogenic
Select item 2443327	NM_013450.4(BAZ2B):c.2105dup (p.Ser703fs)	BAZ2B (S640fs +2 more)	Duplication (frameshift variant)	BAZ2B-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2505363	NM_013450.4(BAZ2B):c.1435del (p.His479fs)	BAZ2B (H416fs +2 more)	Deletion (frameshift variant)	BAZ2B-related disorder	GPathogenic
Select item 800361	NM_013450.4(BAZ2B):c.628C>T (p.Arg210Ter)	BAZ2B (R147* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GPathogenic
Select item 2505364	NM_013450.4(BAZ2B):c.502G>A (p.Gly168Ser)	BAZ2B (G105S +2 more)	Single nucleotide variant (missense variant)	BAZ2B-related disorder	GLikely pathogenic
Select item 224124	NM_013450.4(BAZ2B):c.242C>G (p.Ser81Ter)	BAZ2B (S81*)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 2505367	NM_013450.4(BAZ2B):c.2T>C (p.Met1Thr)	BAZ2B (M1T)	Single nucleotide variant (missense variant +1 more)	BAZ2B-related disorder	GPathogenic
Select item 2505362	GRCh37/hg19 2q24.2(chr2:160229645-160357102)	BAZ2B	Copy number loss	BAZ2B-related disorder	GPathogenic
Select item 2505361	GRCh37/hg19 2q24.2(chr2:159844069-161073462)	BAZ2B, CD302 +7 more	Copy number loss	BAZ2B-related disorder	GPathogenic
Select item 800360	GRCh37/hg19 2q24.2(chr2:160124451-160219840)x1	BAZ2B, TANC1 +1 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 800359	GRCh37/hg19 2q24.2(chr2:160124451-160511552)x1	BAZ2B, TANC1 +1 more	Copy number loss	Neurodevelopmental disorder	GPathogenic