BICD1[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
Select item 59437	GRCh38/hg38 12p11.21(chr12:32104351-32622343)x1	BICD1, BICD1-AS1 +16 more	Copy number loss	See cases	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 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 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 3133850	NM_001714.4(BICD1):c.146A>C (p.Lys49Thr)	BICD1 (K49T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133851	NM_001714.4(BICD1):c.152A>G (p.Gln51Arg)	BICD1 (Q51R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349514	NM_001714.4(BICD1):c.188A>G (p.Lys63Arg)	BICD1 (K63R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642834	NM_001714.4(BICD1):c.213+75_213+77del	BICD1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2595786	NM_001714.4(BICD1):c.264G>C (p.Glu88Asp)	BICD1 (E88D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778588	NM_001714.4(BICD1):c.321G>A (p.Gly107=)	BICD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2338071	NM_001714.4(BICD1):c.346C>A (p.Leu116Met)	BICD1 (L116M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133859	NM_001714.4(BICD1):c.391G>A (p.Glu131Lys)	BICD1 (E131K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618195	NM_001714.4(BICD1):c.392A>G (p.Glu131Gly)	BICD1 (E131G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133860	NM_001714.4(BICD1):c.403G>T (p.Ala135Ser)	BICD1 (A135S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210018	NM_001714.4(BICD1):c.625G>C (p.Glu209Gln)	BICD1 (E209Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285586	NM_001714.4(BICD1):c.659C>T (p.Ala220Val)	BICD1 (A220V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133861	NM_001714.4(BICD1):c.678T>G (p.Ile226Met)	BICD1 (I226M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133862	NM_001714.4(BICD1):c.952T>G (p.Phe318Val)	BICD1 (F318V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2246794	NM_001714.4(BICD1):c.1020G>T (p.Lys340Asn)	BICD1 (K340N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243022	NM_001714.4(BICD1):c.1085C>T (p.Thr362Met)	BICD1 (T373M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402031	NM_001714.4(BICD1):c.1107C>A (p.His369Gln)	BICD1 (H227Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551378	NM_001714.4(BICD1):c.1361A>C (p.Lys454Thr)	BICD1 (K312T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2287701	NM_001714.4(BICD1):c.1375A>C (p.Ile459Leu)	BICD1 (I459L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412394	NM_001714.4(BICD1):c.1385A>G (p.Tyr462Cys)	BICD1 (Y462C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392358	NM_001714.4(BICD1):c.1403G>A (p.Ser468Asn)	BICD1 (S326N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377018	NM_001714.4(BICD1):c.1427G>A (p.Ser476Asn)	BICD1 (S334N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133847	NM_001714.4(BICD1):c.1445A>G (p.His482Arg)	BICD1 (H340R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133848	NM_001714.4(BICD1):c.1458G>C (p.Glu486Asp)	BICD1 (E486D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133849	NM_001714.4(BICD1):c.1463A>G (p.Gln488Arg)	BICD1 (Q488R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2251045	NM_001714.4(BICD1):c.1663C>G (p.Pro555Ala)	BICD1 (P413A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133852	NM_001714.4(BICD1):c.1676T>C (p.Leu559Ser)	BICD1 (L570S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 402425	NM_001714.4(BICD1):c.1704G>C (p.Val568=)	BICD1	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 3133853	NM_001714.4(BICD1):c.1842T>G (p.Asp614Glu)	BICD1 (D625E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2486586	NM_001714.4(BICD1):c.1856G>A (p.Arg619His)	BICD1 (R477H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2479049	NM_001714.4(BICD1):c.1930G>C (p.Asp644His)	BICD1 (D502H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133854	NM_001714.4(BICD1):c.1940T>C (p.Leu647Ser)	BICD1 (L658S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 402426	NM_001714.4(BICD1):c.1980C>T (p.Ala660=)	BICD1	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 3133855	NM_001714.4(BICD1):c.2125C>A (p.Leu709Ile)	BICD1 (L344I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133857	NM_001714.4(BICD1):c.2155A>G (p.Met719Val)	BICD1 (M577V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457107	NM_001714.4(BICD1):c.2447T>C (p.Ile816Thr)	BICD1 (I674T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515326	NM_001714.4(BICD1):c.2449G>A (p.Gly817Ser)	BICD1 (G828S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556522	NM_001714.4(BICD1):c.2482A>G (p.Thr828Ala)	BICD1 (T828A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232901	NM_001714.4(BICD1):c.2485G>A (p.Val829Met)	BICD1 (V829M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133858	NM_001714.4(BICD1):c.2767T>A (p.Cys923Ser)	BICD1 (C923S +5 more)	Single nucleotide variant (synonymous variant +4 more)	not specified	GUncertain significance
Select item 2412465	NM_001714.4(BICD1):c.2879G>T (p.Ser960Ile)	BICD1 (S960I +5 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 979335	GRCh37/hg19 12p11.21(chr12:32527412-32644720)x1	BICD1	Copy number loss	not provided	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 688587	GRCh37/hg19 12p11.21(chr12:31453473-33040145)x3	AMN1, BICD1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 443854	GRCh37/hg19 12p11.22-11.1(chr12:29579030-34835837)x3	ALG10, AMN1 +17 more	Copy number gain	See cases	GLikely pathogenic
Select item 443519	GRCh37/hg19 12p11.22-q12(chr12:29123400-40956186)x3	ABCD2, ALG10 +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 441619	GRCh37/hg19 12p11.21(chr12:32291840-32576741)x1	BICD1	Copy number loss	See cases	GUncertain significance
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 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: 77