"PreventionGenetics, part of Exact Sciences"[submitter] AND "BICD2"[ge - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 703706	NM_001003800.2(BICD2):c.2544G>A (p.Glu848=)	BICD2	Single nucleotide variant (synonymous variant +1 more)	BICD2-related disorder +1 more	GBenign
Select item 705199	NM_001003800.2(BICD2):c.2541C>T (p.Ser847=)	BICD2	Single nucleotide variant (synonymous variant +1 more)	BICD2-related disorder +1 more	GBenign/Likely benign
Select item 772200	NM_001003800.2(BICD2):c.2505C>T (p.Ala835=)	BICD2	Single nucleotide variant (synonymous variant +1 more)	BICD2-related disorder +1 more	GLikely benign
Select item 386265	NM_001003800.2(BICD2):c.2445G>A (p.Pro815=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +4 more	GBenign/Likely benign
Select item 2637043	NM_001003800.2(BICD2):c.2372C>G (p.Ala791Gly)	BICD2 (A791G)	Single nucleotide variant (missense variant)	BICD2-related disorder	GUncertain significance
Select item 541292	NM_001003800.2(BICD2):c.2350A>G (p.Met784Val)	BICD2 (M784V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 541290	NM_001003800.2(BICD2):c.2172G>C (p.Glu724Asp)	BICD2 (E724D)	Single nucleotide variant (missense variant)	BICD2-related disorder +2 more	GLikely benign
Select item 840337	NM_001003800.2(BICD2):c.2106+3G>A	BICD2	Single nucleotide variant (intron variant)	BICD2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2632992	NM_001003800.2(BICD2):c.1939_1998del (p.Arg647_Asp666del)	BICD2	Deletion (inframe_deletion)	BICD2-related disorder	GUncertain significance
Select item 706682	NM_001003800.2(BICD2):c.1989C>T (p.Pro663=)	BICD2	Single nucleotide variant (synonymous variant)	BICD2-related disorder +1 more	GLikely benign
Select item 385976	NM_001003800.2(BICD2):c.1806G>A (p.Thr602=)	BICD2	Single nucleotide variant (synonymous variant)	BICD2-related disorder +3 more	GBenign/Likely benign
Select item 570965	NM_001003800.2(BICD2):c.1696C>T (p.Arg566Cys)	BICD2 (R566C)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +2 more	GConflicting classifications of pathogenicity
Select item 1542370	NM_001003800.2(BICD2):c.1674C>A (p.Arg558=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more	GLikely benign
Select item 2636434	NM_001003800.2(BICD2):c.1619A>G (p.His540Arg)	BICD2 (H540R)	Single nucleotide variant (missense variant)	BICD2-related disorder	GUncertain significance
Select item 1167684	NM_001003800.2(BICD2):c.1401C>T (p.His467=)	BICD2	Single nucleotide variant (synonymous variant)	BICD2-related disorder +2 more	GBenign/Likely benign
Select item 390984	NM_001003800.2(BICD2):c.1387C>T (p.Arg463Cys)	BICD2 (R463C)	Single nucleotide variant (missense variant)	BICD2-related disorder +3 more	GBenign/Likely benign
Select item 1662339	NM_001003800.2(BICD2):c.1192C>T (p.Arg398Trp)	BICD2 (R398W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 474255	NM_001003800.2(BICD2):c.1179T>A (p.Asn393Lys)	BICD2 (N393K)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 385928	NM_001003800.2(BICD2):c.1128G>A (p.Thr376=)	BICD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 474253	NM_001003800.2(BICD2):c.1050G>A (p.Gln350=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +3 more	GBenign/Likely benign
Select item 790901	NM_001003800.2(BICD2):c.849C>G (p.Leu283=)	BICD2	Single nucleotide variant (synonymous variant)	BICD2-related disorder +1 more	GLikely benign
Select item 508192	NM_001003800.2(BICD2):c.813C>T (p.Phe271=)	BICD2	Single nucleotide variant (synonymous variant)	BICD2-related disorder +3 more	GBenign/Likely benign
Select item 1330693	NM_001003800.2(BICD2):c.527G>A (p.Arg176His)	BICD2 (R176H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2043170	NM_001003800.2(BICD2):c.479G>A (p.Arg160His)	BICD2 (R160H)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more	GUncertain significance
Select item 507227	NM_001003800.2(BICD2):c.454-7C>G	BICD2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 2720627	NM_001003800.2(BICD2):c.454-9C>A	BICD2	Single nucleotide variant (intron variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more	GLikely benign
Select item 1166073	NM_001003800.2(BICD2):c.453+9G>T	BICD2	Single nucleotide variant (intron variant)	BICD2-related disorder +1 more	GBenign/Likely benign
Select item 235235	NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg)	BICD2 (K90R)	Single nucleotide variant (missense variant)	BICD2-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 2632199	NM_001003800.2(BICD2):c.266A>G (p.His89Arg)	BICD2 (H89R)	Single nucleotide variant (missense variant)	BICD2-related disorder	GUncertain significance
Select item 706800	NM_001003800.2(BICD2):c.240+10G>T	BICD2	Single nucleotide variant (intron variant)	BICD2-related disorder +1 more	GLikely benign
Select item 2631939	NM_001003800.2(BICD2):c.68G>C (p.Arg23Pro)	BICD2 (R23P)	Single nucleotide variant (missense variant)	BICD2-related disorder	GUncertain significance
Select item 2629274	NM_001003800.2(BICD2):c.35G>A (p.Arg12Gln)	BICD2 (R12Q)	Single nucleotide variant (missense variant)	BICD2-related disorder	GUncertain significance

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Items: 32