"Ambry Genetics"[submitter] AND "BICD2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1497175	NM_001003800.2(BICD2):c.2545A>C (p.Lys849Gln)	BICD2 (K849Q)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more	GUncertain significance
Select item 565422	NM_001003800.2(BICD2):c.2515G>A (p.Gly839Arg)	BICD2 (G839R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +2 more	GConflicting classifications of pathogenicity
Select item 1792145	NM_001003800.2(BICD2):c.2497G>A (p.Asp833Asn)	BICD2 (D833N)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more	GBenign/Likely benign
Select item 2349494	NM_001003800.2(BICD2):c.2479A>G (p.Thr827Ala)	BICD2 (T827A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1791779	NM_001003800.2(BICD2):c.2470G>A (p.Val824Ile)	BICD2 (V824I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 643508	NM_001003800.2(BICD2):c.2461A>G (p.Thr821Ala)	BICD2 (T821A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 568510	NM_001003800.2(BICD2):c.2452A>G (p.Lys818Glu)	BICD2 (K818E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 1791371	NM_001003800.2(BICD2):c.2444C>T (p.Pro815Leu)	BICD2 (P815L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 579572	NM_001003800.2(BICD2):c.2440G>T (p.Ala814Ser)	BICD2 (A814S)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more	GLikely benign
Select item 577249	NM_001003800.2(BICD2):c.2423G>A (p.Arg808His)	BICD2 (R808H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1790653	NM_001003800.2(BICD2):c.2398G>C (p.Glu800Gln)	BICD2 (E800Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 522125	NM_001003800.2(BICD2):c.2398G>A (p.Glu800Lys)	BICD2 (E800K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 474273	NM_001003800.2(BICD2):c.2397C>T (p.Leu799=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +2 more	GBenign/Likely benign
Select item 650433	NM_001003800.2(BICD2):c.2384G>A (p.Arg795Gln)	BICD2 (R795Q)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more	GUncertain significance
Select item 541292	NM_001003800.2(BICD2):c.2350A>G (p.Met784Val)	BICD2 (M784V)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +3 more	GBenign/Likely benign
Select item 388943	NM_001003800.2(BICD2):c.2340G>A (p.Ser780=)	BICD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 444774	NM_001003800.2(BICD2):c.2331G>A (p.Thr777=)	BICD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 386459	NM_001003800.2(BICD2):c.2307G>A (p.Ala769=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +2 more	GLikely benign
Select item 968936	NM_001003800.2(BICD2):c.2245A>G (p.Met749Val)	BICD2 (M749V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1787870	NM_001003800.2(BICD2):c.2218G>T (p.Ala740Ser)	BICD2 (A740S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 508394	NM_001003800.2(BICD2):c.2217C>T (p.Asp739=)	BICD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1787222	NM_001003800.2(BICD2):c.2179A>T (p.Met727Leu)	BICD2 (M727L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 541290	NM_001003800.2(BICD2):c.2172G>C (p.Glu724Asp)	BICD2 (E724D)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +2 more	GLikely benign
Select item 425455	NM_001003800.2(BICD2):c.2169C>T (p.Thr723=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +2 more	GConflicting classifications of pathogenicity
Select item 474271	NM_001003800.2(BICD2):c.2112C>T (p.Ala704=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +2 more	GLikely benign
Select item 55858	NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met)	BICD2 (T703M)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 840337	NM_001003800.2(BICD2):c.2106+3G>A	BICD2	Single nucleotide variant (intron variant)	BICD2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 985798	NM_001003800.2(BICD2):c.2080C>G (p.Arg694Gly)	BICD2 (R694G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 541297	NM_001003800.2(BICD2):c.2076G>A (p.Thr692=)	BICD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1785176	NM_001003800.2(BICD2):c.2059C>T (p.Arg687Trp)	BICD2 (R687W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232042	NM_001003800.2(BICD2):c.2054C>T (p.Thr685Ile)	BICD2 (T685I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 954395	NM_001003800.2(BICD2):c.2042C>T (p.Ser681Leu)	BICD2 (S681L)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +2 more	GConflicting classifications of pathogenicity
Select item 474269	NM_001003800.2(BICD2):c.2013G>A (p.Ala671=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more	GLikely benign
Select item 846910	NM_001003800.2(BICD2):c.1964G>A (p.Arg655His)	BICD2 (R655H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 474268	NM_001003800.2(BICD2):c.1962G>A (p.Gln654=)	BICD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 541284	NM_001003800.2(BICD2):c.1947G>A (p.Thr649=)	BICD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1783130	NM_001003800.2(BICD2):c.1946C>T (p.Thr649Met)	BICD2 (T649M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 541293	NM_001003800.2(BICD2):c.1893C>T (p.Ile631=)	BICD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 661093	NM_001003800.2(BICD2):c.1886A>G (p.Asn629Ser)	BICD2 (N629S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 389529	NM_001003800.2(BICD2):c.1842A>G (p.Pro614=)	BICD2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 385976	NM_001003800.2(BICD2):c.1806G>A (p.Thr602=)	BICD2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 474267	NM_001003800.2(BICD2):c.1749C>T (p.Pro583=)	BICD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2239336	NM_001003800.2(BICD2):c.1745C>T (p.Ser582Leu)	BICD2 (S582L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292638	NM_001003800.2(BICD2):c.1741C>A (p.Arg581Ser)	BICD2 (R581S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 474266	NM_001003800.2(BICD2):c.1741C>T (p.Arg581Cys)	BICD2 (R581C)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more	GLikely benign
Select item 847744	NM_001003800.2(BICD2):c.1733G>A (p.Arg578His)	BICD2 (R578H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 474264	NM_001003800.2(BICD2):c.1725C>T (p.Pro575=)	BICD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 439433	NM_001003800.2(BICD2):c.1725C>G (p.Pro575=)	BICD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1951819	NM_001003800.2(BICD2):c.1712G>T (p.Gly571Val)	BICD2 (G571V)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more	GLikely benign
Select item 510705	NM_001003800.2(BICD2):c.1707C>T (p.Pro569=)	BICD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 474262	NM_001003800.2(BICD2):c.1674C>T (p.Arg558=)	BICD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 422408	NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del)	BICD2 (N546del)	Deletion (inframe_deletion)	not provided +15 more	GPathogenic/Likely pathogenic
Select item 1776888	NM_001003800.2(BICD2):c.1634A>G (p.Asn545Ser)	BICD2 (N545S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 391334	NM_001003800.2(BICD2):c.1620C>T (p.His540=)	BICD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 521167	NM_001003800.2(BICD2):c.1613A>G (p.Tyr538Cys)	BICD2 (Y538C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 208737	NM_001003800.2(BICD2):c.1589T>C (p.Phe530Ser)	BICD2 (F530S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 452307	NM_001003800.2(BICD2):c.1556G>T (p.Ser519Ile)	BICD2 (S519I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 474261	NM_001003800.2(BICD2):c.1551G>A (p.Gln517=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more	GLikely benign
Select item 432264	NM_001003800.2(BICD2):c.1540G>A (p.Gly514Ser)	BICD2 (G514S)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +2 more	GConflicting classifications of pathogenicity
Select item 474260	NM_001003800.2(BICD2):c.1539C>T (p.Ala513=)	BICD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 541298	NM_001003800.2(BICD2):c.1503G>T (p.Arg501=)	BICD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 846210	NM_001003800.2(BICD2):c.1501C>T (p.Arg501Trp)	BICD2 (R501W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1773727	NM_001003800.2(BICD2):c.1489_1491delinsTCA (p.Glu497Ser)	BICD2 (E497S)	Indel (missense variant)	Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant +1 more	GUncertain significance
Select item 474259	NM_001003800.2(BICD2):c.1481A>G (p.Gln494Arg)	BICD2 (Q494R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1773499	NM_001003800.2(BICD2):c.1478G>T (p.Arg493Leu)	BICD2 (R493L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 541283	NM_001003800.2(BICD2):c.1477C>T (p.Arg493Cys)	BICD2 (R493C)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +2 more	GConflicting classifications of pathogenicity
Select item 578487	NM_001003800.2(BICD2):c.1453G>T (p.Val485Phe)	BICD2 (V485F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 514059	NM_001003800.2(BICD2):c.1446G>A (p.Thr482=)	BICD2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 474258	NM_001003800.2(BICD2):c.1445C>T (p.Thr482Met)	BICD2 (T482M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 439434	NM_001003800.2(BICD2):c.1438G>A (p.Ala480Thr)	BICD2 (A480T)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +2 more	GConflicting classifications of pathogenicity
Select item 1037444	NM_001003800.2(BICD2):c.1417C>T (p.Arg473Cys)	BICD2 (R473C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 951200	NM_001003800.2(BICD2):c.1414G>A (p.Gly472Ser)	BICD2 (G472S)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more	GUncertain significance
Select item 390984	NM_001003800.2(BICD2):c.1387C>T (p.Arg463Cys)	BICD2 (R463C)	Single nucleotide variant (missense variant)	BICD2-related condition +3 more	GBenign/Likely benign
Select item 474257	NM_001003800.2(BICD2):c.1371C>T (p.Arg457=)	BICD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1671543	NM_001003800.2(BICD2):c.1370G>A (p.Arg457His)	BICD2 (R457H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 513883	NM_001003800.2(BICD2):c.1259A>C (p.Glu420Ala)	BICD2 (E420A)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +2 more	GLikely benign
Select item 392957	NM_001003800.2(BICD2):c.1250A>G (p.Asp417Gly)	BICD2 (D417G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 387286	NM_001003800.2(BICD2):c.1236C>T (p.Asn412=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +2 more	GLikely benign
Select item 2602140	NM_001003800.2(BICD2):c.1217G>A (p.Arg406Gln)	BICD2 (R406Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2538656	NM_001003800.2(BICD2):c.1216C>T (p.Arg406Trp)	BICD2 (R406W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1381411	NM_001003800.2(BICD2):c.1211A>G (p.Lys404Arg)	BICD2 (K404R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 703581	NM_001003800.2(BICD2):c.1203G>T (p.Gln401His)	BICD2 (Q401H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 474256	NM_001003800.2(BICD2):c.1196G>A (p.Arg399His)	BICD2 (R399H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 665983	NM_001003800.2(BICD2):c.1195C>T (p.Arg399Cys)	BICD2 (R399C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2538412	NM_001003800.2(BICD2):c.1193G>A (p.Arg398Gln)	BICD2 (R398Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1662339	NM_001003800.2(BICD2):c.1192C>T (p.Arg398Trp)	BICD2 (R398W)	Single nucleotide variant (missense variant)	BICD2-related condition +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 453090	NM_001003800.2(BICD2):c.1168C>A (p.Leu390Ile)	BICD2 (L390I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1494151	NM_001003800.2(BICD2):c.1165C>T (p.Arg389Cys)	BICD2 (R389C)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more	GUncertain significance
Select item 385928	NM_001003800.2(BICD2):c.1128G>A (p.Thr376=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +3 more	GLikely benign
Select item 541296	NM_001003800.2(BICD2):c.1127C>T (p.Thr376Met)	BICD2 (T376M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2037914	NM_001003800.2(BICD2):c.1120G>A (p.Glu374Lys)	BICD2 (E374K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1794213	NM_001003800.2(BICD2):c.1108C>A (p.Gln370Lys)	BICD2 (Q370K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 155728	NM_001003800.2(BICD2):c.1079C>T (p.Ala360Val)	BICD2 (A360V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 423187	NM_001003800.2(BICD2):c.1069C>T (p.Arg357Trp)	BICD2 (R357W)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +2 more	GConflicting classifications of pathogenicity
Select item 1780499	NM_001003800.2(BICD2):c.1062+5G>A	BICD2	Single nucleotide variant (intron variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more	GUncertain significance
Select item 474253	NM_001003800.2(BICD2):c.1050G>A (p.Gln350=)	BICD2	Single nucleotide variant (synonymous variant)	BICD2-related condition +3 more	GBenign/Likely benign
Select item 390790	NM_001003800.2(BICD2):c.1044G>A (p.Leu348=)	BICD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1512331	NM_001003800.2(BICD2):c.991A>G (p.Ser331Gly)	BICD2 (S331G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

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