BICD1[gene] - ClinVar

Search results

Items: 88

	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	ACAD10, ACADS +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 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 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 3260880	NM_001714.4(BICD1):c.1099C>T (p.Arg367Trp)	BICD1 (R225W +2 more)	Single nucleotide variant (missense variant +2 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 3260889	NM_001714.4(BICD1):c.1109G>A (p.Arg370Gln)	BICD1 (R370Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3260884	NM_001714.4(BICD1):c.1139G>T (p.Gly380Val)	BICD1 (G238V +2 more)	Single nucleotide variant (missense variant +2 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 3260885	NM_001714.4(BICD1):c.1508C>T (p.Thr503Met)	BICD1 (T514M +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 (non-coding transcript 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 +1 more	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 +1 more	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 3260882	NM_001714.4(BICD1):c.2419A>G (p.Ser807Gly)	BICD1 (S442G +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 3260883	NM_001714.4(BICD1):c.2643A>T (p.Leu881Phe)	BICD1 (L835F +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3260886	NM_001714.4(BICD1):c.2718A>T (p.Gln906His)	BICD1 (Q860H +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3260887	NM_001714.4(BICD1):c.2758C>A (p.Pro920Thr)	BICD1 (P920T +1 more)	Single nucleotide variant (missense variant +3 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 3260879	NM_001714.4(BICD1):c.2873A>G (p.His958Arg)	BICD1 (H868R +5 more)	Single nucleotide variant (3 prime UTR variant +2 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 3260888	NM_001714.4(BICD1):c.2903G>C (p.Cys968Ser)	BICD1 (C878S +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	DENND5B, DERA +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	BICD1, HDAC7 +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)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +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	GALNT8, H2AJ +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 88