Related gene-specific medical variations for Gene (Select 636) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260881	NM_001714.4(BICD1):c.31G>A (p.Asp11Asn)	BICD1, BICD1-AS1 (D11N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591510	NM_001714.4(BICD1):c.87C>G (p.His29Gln)	BICD1, BICD1-AS1 (H29Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2269157	NM_001714.4(BICD1):c.65A>G (p.Lys22Arg)	BICD1, BICD1-AS1 (K22R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 979335	GRCh37/hg19 12p11.21(chr12:32527412-32644720)x1	BICD1	Copy number loss	not provided	GUncertain significance
Select item 716989	NM_001714.4(BICD1):c.114G>A (p.Gly38=)	BICD1, BICD1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 441619	GRCh37/hg19 12p11.21(chr12:32291840-32576741)x1	BICD1	Copy number loss	See cases	GUncertain significance

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