"BAZ1B-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2630459	NM_032408.4(BAZ1B):c.4144C>T (p.His1382Tyr)	BAZ1B (H1382Y)	Single nucleotide variant (missense variant)	BAZ1B-related condition	GUncertain significance
Select item 3029920	NM_032408.4(BAZ1B):c.3571C>T (p.Arg1191Ter)	BAZ1B (R1191*)	Single nucleotide variant (nonsense)	BAZ1B-related condition	GUncertain significance
Select item 2632356	NM_032408.4(BAZ1B):c.3570T>A (p.Cys1190Ter)	BAZ1B (C1190*)	Single nucleotide variant (nonsense)	BAZ1B-related condition	GUncertain significance
Select item 3038157	NM_032408.4(BAZ1B):c.3216A>G (p.Gly1072=)	BAZ1B	Single nucleotide variant (synonymous variant)	BAZ1B-related condition	GUncertain significance
Select item 754494	NM_032408.4(BAZ1B):c.1992A>G (p.Gln664=)	BAZ1B	Single nucleotide variant (synonymous variant)	BAZ1B-related condition +1 more	GBenign/Likely benign
Select item 731603	NM_032408.4(BAZ1B):c.506T>C (p.Ile169Thr)	BAZ1B (I169T)	Single nucleotide variant (missense variant)	BAZ1B-related condition +1 more	GLikely benign
Select item 3052280	NM_032408.4(BAZ1B):c.370G>A (p.Val124Ile)	BAZ1B (V124I)	Single nucleotide variant (missense variant)	BAZ1B-related condition	GLikely benign

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