"Genome-Nilou Lab"[submitter] AND "BDP1"[gene] - ClinVar - NCBI

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Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 508084	NM_018429.3(BDP1):c.114T>G (p.Asp38Glu)	BDP1 (D38E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 508085	NM_018429.3(BDP1):c.2332G>A (p.Val778Met)	BDP1 (V778M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 506538	NM_018429.3(BDP1):c.3538G>A (p.Gly1180Ser)	BDP1 (G1180S)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 112 +2 more	GBenign
Select item 508086	NM_018429.3(BDP1):c.3730T>A (p.Phe1244Ile)	BDP1 (F1244I)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 112 +2 more	GBenign
Select item 508087	NM_018429.3(BDP1):c.3792C>G (p.Ile1264Met)	BDP1 (I1264M)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 112 +2 more	GBenign
Select item 508088	NM_018429.3(BDP1):c.4039G>A (p.Val1347Met)	BDP1 (V1347M)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 112 +2 more	GBenign
Select item 682760	NM_018429.3(BDP1):c.4060-77G>A	BDP1	Single nucleotide variant (intron variant)	Hearing loss, autosomal recessive 112 +1 more	GBenign
Select item 508127	NM_018429.3(BDP1):c.4405A>G (p.Lys1469Glu)	BDP1 (K1469E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1192421	NM_018429.3(BDP1):c.5893-36G>A	BDP1	Single nucleotide variant (intron variant)	Hearing loss, autosomal recessive 112 +1 more	GBenign
Select item 506716	NM_018429.3(BDP1):c.6037A>C (p.Ile2013Leu)	BDP1 (I2013L)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 112 +2 more	GBenign
Select item 508089	NM_018429.3(BDP1):c.6462C>T (p.Leu2154=)	BDP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 508090	NM_018429.3(BDP1):c.7074G>T (p.Pro2358=)	BDP1	Single nucleotide variant (synonymous variant)	Hearing loss, autosomal recessive 112 +2 more	GBenign