BCDIN3D[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 2225617	NM_181708.3(BCDIN3D):c.833T>C (p.Ile278Thr)	BCDIN3D, BCDIN3D-AS1 (I278T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379648	NM_181708.3(BCDIN3D):c.773G>A (p.Ser258Asn)	BCDIN3D, BCDIN3D-AS1 (S258N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2287583	NM_181708.3(BCDIN3D):c.744T>G (p.Cys248Trp)	BCDIN3D, BCDIN3D-AS1 (C248W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2241248	NM_181708.3(BCDIN3D):c.605G>A (p.Cys202Tyr)	BCDIN3D, BCDIN3D-AS1 (C202Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2407692	NM_181708.3(BCDIN3D):c.598T>C (p.Trp200Arg)	BCDIN3D, BCDIN3D-AS1 (W200R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2469189	NM_181708.3(BCDIN3D):c.572A>G (p.His191Arg)	BCDIN3D, BCDIN3D-AS1 (H191R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2319107	NM_181708.3(BCDIN3D):c.376C>T (p.Pro126Ser)	BCDIN3D, BCDIN3D-AS1 (P126S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3260618	NM_181708.3(BCDIN3D):c.319C>T (p.Leu107Phe)	BCDIN3D, BCDIN3D-AS1 (L107F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2233614	NM_181708.3(BCDIN3D):c.314G>A (p.Arg105His)	BCDIN3D, BCDIN3D-AS1 (R105H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2588549	NM_181708.3(BCDIN3D):c.244G>A (p.Val82Met)	BCDIN3D, BCDIN3D-AS1 (V82M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 58211	GRCh38/hg38 12q13.12(chr12:49840075-50315208)x3	AQP2, AQP5 +43 more	Copy number gain	See cases	GUncertain significance
Select item 2548315	NM_181708.3(BCDIN3D):c.224G>C (p.Cys75Ser)	BCDIN3D (C75S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133353	NM_181708.3(BCDIN3D):c.204T>G (p.Ile68Met)	BCDIN3D (I68M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133352	NM_181708.3(BCDIN3D):c.182A>G (p.Glu61Gly)	BCDIN3D (E61G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133355	NM_181708.3(BCDIN3D):c.77C>G (p.Pro26Arg)	BCDIN3D (P26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 254103	NM_181708.3(BCDIN3D):c.23A>G (p.Asp8Gly)	BCDIN3D (D8G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2488501	NM_181708.3(BCDIN3D):c.4G>T (p.Ala2Ser)	BCDIN3D (A2S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 979964	GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3	ADCY6, ARF3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

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Items: 24