"Ambry Genetics"[submitter] AND "BICD1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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

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: 50