ClinVar for Gene (Select 23299) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3356723	NM_001003800.2(BICD2):c.1789C>T (p.Arg597Ter)	BICD2 (R597*)	Single nucleotide variant (nonsense)	BICD2-related disorder	GUncertain significance
Select item 3355758	NM_001003800.2(BICD2):c.953C>G (p.Ser318Cys)	BICD2 (S318C)	Single nucleotide variant (missense variant)	BICD2-related disorder	GUncertain significance
Select item 3342840	NM_001003800.2(BICD2):c.593T>C (p.Leu198Pro)	BICD2 (L198P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3337853	NM_001003800.2(BICD2):c.517C>T (p.Arg173Trp)	BICD2 (R173W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3260891	NM_001003800.2(BICD2):c.347G>A (p.Arg116Gln)	BICD2 (R116Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3260890	NM_001003800.2(BICD2):c.1903C>T (p.Arg635Cys)	BICD2 (R635C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245258	NC_000009.11:g.(?_95477703)_(95479326_?)del	BICD2	Deletion	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 3233668	NM_001003800.2(BICD2):c.2100C>A (p.Asn700Lys)	BICD2 (N700K)	Single nucleotide variant (missense variant)	Spinal muscular atrophy with lower extremity predominance	GPathogenic
Select item 3133865	NM_001003800.2(BICD2):c.979C>A (p.Pro327Thr)	BICD2 (P327T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133864	NM_001003800.2(BICD2):c.874C>T (p.Pro292Ser)	BICD2 (P292S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133863	NM_001003800.2(BICD2):c.1384G>A (p.Ala462Thr)	BICD2 (A462T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3064531	NM_001003800.2(BICD2):c.535C>T (p.Gln179Ter)	BICD2 (Q179*)	Single nucleotide variant (nonsense)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely pathogenic
Select item 3063705	NM_001003800.2(BICD2):c.-2C>T	BICD2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3027144	NM_001003800.2(BICD2):c.547G>T (p.Glu183Ter)	BICD2 (E183*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3020072	NM_001003800.2(BICD2):c.2259-3C>T	BICD2	Single nucleotide variant (intron variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 3018389	NM_001003800.2(BICD2):c.2440G>A (p.Ala814Thr)	BICD2 (A814T)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 3016870	NM_001003800.2(BICD2):c.111G>A (p.Thr37=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 3010999	NM_001003800.2(BICD2):c.2175C>G (p.Thr725=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 3009897	NM_001003800.2(BICD2):c.1123C>G (p.His375Asp)	BICD2 (H375D)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 3007252	NM_001003800.2(BICD2):c.2258+14T>C	BICD2	Single nucleotide variant (intron variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 3005812	NM_001003800.2(BICD2):c.1041G>A (p.Lys347=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 3000541	NM_001003800.2(BICD2):c.1262A>T (p.Asp421Val)	BICD2 (D421V)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2998683	NM_001003800.2(BICD2):c.12G>A (p.Pro4=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2995187	NM_001003800.2(BICD2):c.2527C>T (p.Gln843Ter)	BICD2 (Q843*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2994090	NM_001003800.2(BICD2):c.1533C>A (p.Asp511Glu)	BICD2 (D511E)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2991595	NM_001003800.2(BICD2):c.2106+11A>C	BICD2	Single nucleotide variant (intron variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2989867	NM_001003800.2(BICD2):c.240+8G>A	BICD2	Single nucleotide variant (intron variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2989470	NM_001003800.2(BICD2):c.398C>T (p.Thr133Ile)	BICD2 (T133I)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2989220	NM_001003800.2(BICD2):c.2181G>T (p.Met727Ile)	BICD2 (M727I)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2987990	NM_001003800.2(BICD2):c.84G>A (p.Arg28=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2987352	NM_001003800.2(BICD2):c.2559C>T (p.Tyr853=)	BICD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2986896	NM_001003800.2(BICD2):c.1903C>G (p.Arg635Gly)	BICD2 (R635G)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2986864	NM_001003800.2(BICD2):c.1964G>T (p.Arg655Leu)	BICD2 (R655L)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2986749	NM_001003800.2(BICD2):c.546G>C (p.Ser182=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2983770	NM_001003800.2(BICD2):c.976G>C (p.Ala326Pro)	BICD2 (A326P)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2982805	NM_001003800.2(BICD2):c.1402G>A (p.Ala468Thr)	BICD2 (A468T)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2976116	NM_001003800.2(BICD2):c.1536C>T (p.Val512=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GBenign
Select item 2965613	NM_001003800.2(BICD2):c.1530C>T (p.Ser510=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GBenign
Select item 2964178	NM_001003800.2(BICD2):c.260C>G (p.Thr87Arg)	BICD2 (T87R)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2962877	NM_001003800.2(BICD2):c.897G>A (p.Leu299=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2961182	NM_001003800.2(BICD2):c.1914C>G (p.Ile638Met)	BICD2 (I638M)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2961065	NM_001003800.2(BICD2):c.1617C>T (p.His539=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2918928	NM_001003800.2(BICD2):c.1405G>A (p.Glu469Lys)	BICD2 (E469K)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2918721	NM_001003800.2(BICD2):c.2258+17C>G	BICD2	Single nucleotide variant (intron variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2917972	NM_001003800.2(BICD2):c.2161A>G (p.Met721Val)	BICD2 (M721V)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2915543	NM_001003800.2(BICD2):c.2021A>G (p.Glu674Gly)	BICD2 (E674G)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2915272	NM_001003800.2(BICD2):c.421C>T (p.Arg141Cys)	BICD2 (R141C)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2914529	NM_001003800.2(BICD2):c.1058T>C (p.Met353Thr)	BICD2 (M353T)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2913564	NM_001003800.2(BICD2):c.1732C>G (p.Arg578Gly)	BICD2 (R578G)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2912386	NM_001003800.2(BICD2):c.1928C>T (p.Ala643Val)	BICD2 (A643V)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2910921	NM_001003800.2(BICD2):c.50C>A (p.Ala17Glu)	BICD2 (A17E)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2910550	NM_001003800.2(BICD2):c.2547G>T (p.Lys849Asn)	BICD2 (K849N)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2907183	NM_001003800.2(BICD2):c.1063-10G>A	BICD2	Single nucleotide variant (intron variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2905712	NM_001003800.2(BICD2):c.1675_1698del (p.Glu559_Arg566del)	BICD2	Deletion (inframe_deletion)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2903698	NM_001003800.2(BICD2):c.996C>G (p.Leu332=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2903188	NM_001003800.2(BICD2):c.291G>A (p.Glu97=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2895857	NM_001003800.2(BICD2):c.1308C>T (p.Ala436=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2893225	NM_001003800.2(BICD2):c.2170G>A (p.Glu724Lys)	BICD2 (E724K)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2886643	NM_001003800.2(BICD2):c.453+9G>A	BICD2	Single nucleotide variant (intron variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2885084	NM_001003800.2(BICD2):c.1350C>T (p.Arg450=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2877714	NM_001003800.2(BICD2):c.393C>A (p.Val131=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2874483	NM_001003800.2(BICD2):c.1204_1221del (p.Ala402_Gln407del)	BICD2	Deletion (inframe_deletion)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2873566	NM_001003800.2(BICD2):c.619G>A (p.Gly207Ser)	BICD2 (G207S)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2871498	NM_001003800.2(BICD2):c.11C>G (p.Pro4Arg)	BICD2 (P4R)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2865170	NM_001003800.2(BICD2):c.1922T>A (p.Leu641Gln)	BICD2 (L641Q)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GPathogenic
Select item 2859701	NM_001003800.2(BICD2):c.1958G>A (p.Arg653His)	BICD2 (R653H)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2858103	NM_001003800.2(BICD2):c.864T>A (p.Asp288Glu)	BICD2 (D288E)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2855371	NM_001003800.2(BICD2):c.681G>T (p.Glu227Asp)	BICD2 (E227D)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2855033	NM_001003800.2(BICD2):c.1784C>T (p.Ala595Val)	BICD2 (A595V)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2852735	NM_001003800.2(BICD2):c.2510G>T (p.Gly837Val)	BICD2 (G837V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2851167	NM_001003800.2(BICD2):c.1584G>T (p.Val528=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2850468	NM_001003800.2(BICD2):c.241G>C (p.Ala81Pro)	BICD2 (A81P)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2843898	NM_001003800.2(BICD2):c.1153G>A (p.Glu385Lys)	BICD2 (E385K)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2837414	NM_001003800.2(BICD2):c.1798G>T (p.Gly600Cys)	BICD2 (G600C)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2836267	NM_001003800.2(BICD2):c.1501C>G (p.Arg501Gly)	BICD2 (R501G)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2831511	NM_001003800.2(BICD2):c.1959C>G (p.Arg653=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2830195	NM_001003800.2(BICD2):c.503A>C (p.Lys168Thr)	BICD2 (K168T)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2829785	NM_001003800.2(BICD2):c.241-12C>T	BICD2	Single nucleotide variant (intron variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2813097	NM_001003800.2(BICD2):c.2158G>A (p.Ala720Thr)	BICD2 (A720T)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2807945	NM_001003800.2(BICD2):c.2065C>G (p.Gln689Glu)	BICD2 (Q689E)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2807725	NM_001003800.2(BICD2):c.1858C>A (p.Pro620Thr)	BICD2 (P620T)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2805620	NM_001003800.2(BICD2):c.1730C>T (p.Ala577Val)	BICD2 (A577V)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2802176	NM_001003800.2(BICD2):c.862G>A (p.Asp288Asn)	BICD2 (D288N)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2799736	NM_001003800.2(BICD2):c.2431G>A (p.Ala811Thr)	BICD2 (A811T)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2799039	NM_001003800.2(BICD2):c.739C>A (p.Leu247Met)	BICD2 (L247M)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2789797	NM_001003800.2(BICD2):c.2017A>G (p.Met673Val)	BICD2 (M673V)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2787780	NM_001003800.2(BICD2):c.453+20C>T	BICD2	Single nucleotide variant (intron variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2787197	NM_001003800.2(BICD2):c.2235G>T (p.Ser745=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2785299	NM_001003800.2(BICD2):c.2527C>G (p.Gln843Glu)	BICD2 (Q843E)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2784963	NM_001003800.2(BICD2):c.396C>T (p.Leu132=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2769125	NM_001003800.2(BICD2):c.1295C>T (p.Pro432Leu)	BICD2 (P432L)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2763001	NM_001003800.2(BICD2):c.1152G>A (p.Gln384=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2747698	NM_001003800.2(BICD2):c.1506G>A (p.Leu502=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2746096	NM_001003800.2(BICD2):c.1083C>G (p.Gly361=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2740313	NM_001003800.2(BICD2):c.2234C>T (p.Ser745Leu)	BICD2 (S745L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2739067	NM_001003800.2(BICD2):c.868G>A (p.Ala290Thr)	BICD2 (A290T)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2739042	NM_001003800.2(BICD2):c.35_52dup (p.Ala17_Gln18insArgLeuValMetGluAla)	BICD2	Duplication (inframe_insertion)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2738685	NM_001003800.2(BICD2):c.2106+13G>A	BICD2	Single nucleotide variant (intron variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2738566	NM_001003800.2(BICD2):c.2058G>A (p.Lys686=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GBenign

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