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

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

Search results

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2225707	NM_007056.3(CLASRP):c.268C>A (p.Pro90Thr)	CLASRP (P90T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2263427	NM_007056.3(CLASRP):c.277A>T (p.Thr93Ser)	CLASRP (T93S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2347045	NM_007056.3(CLASRP):c.283C>T (p.Pro95Ser)	CLASRP (P95S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2296491	NM_007056.3(CLASRP):c.322G>A (p.Glu108Lys)	CLASRP (E108K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232301	NM_007056.3(CLASRP):c.469G>A (p.Ala157Thr)	CLASRP (A95T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2271912	NM_007056.3(CLASRP):c.616G>A (p.Val206Met)	CLASRP (V206M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2252869	NM_007056.3(CLASRP):c.724G>A (p.Asp242Asn)	CLASRP (D242N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327207	NM_007056.3(CLASRP):c.750G>T (p.Lys250Asn)	CLASRP (K188N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227983	NM_007056.3(CLASRP):c.919T>G (p.Ser307Ala)	CLASRP (S307A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390448	NM_007056.3(CLASRP):c.940C>T (p.Arg314Cys)	CLASRP (R314C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493533	NM_007056.3(CLASRP):c.1067C>A (p.Pro356His)	CLASRP (P294H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388039	NM_007056.3(CLASRP):c.1120C>T (p.Arg374Cys)	CLASRP (R312C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238327	NM_007056.3(CLASRP):c.1199C>T (p.Ser400Phe)	CLASRP (S400F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336672	NM_007056.3(CLASRP):c.1213G>T (p.Gly405Cys)	CLASRP (G343C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390351	NM_007056.3(CLASRP):c.1266G>C (p.Trp422Cys)	CLASRP (W422C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318313	NM_007056.3(CLASRP):c.1280C>G (p.Ser427Cys)	CLASRP (S365C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597806	NM_007056.3(CLASRP):c.1319G>A (p.Arg440Gln)	CLASRP (R378Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603506	NM_007056.3(CLASRP):c.1327T>G (p.Ser443Ala)	CLASRP (S443A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527873	NM_007056.3(CLASRP):c.1331G>A (p.Gly444Asp)	CLASRP (G382D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467429	NM_007056.3(CLASRP):c.1363C>T (p.Arg455Cys)	CLASRP (R455C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359389	NM_007056.3(CLASRP):c.1375C>T (p.Arg459Trp)	CLASRP (R397W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232526	NM_007056.3(CLASRP):c.1399C>T (p.Arg467Cys)	CLASRP (R405C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322137	NM_007056.3(CLASRP):c.1414C>T (p.Arg472Cys)	CLASRP (R472C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367222	NM_007056.3(CLASRP):c.1431C>A (p.Asp477Glu)	CLASRP (D415E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590290	NM_007056.3(CLASRP):c.1432C>T (p.Arg478Cys)	CLASRP (R416C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2568923	NM_007056.3(CLASRP):c.1433G>A (p.Arg478His)	CLASRP (R478H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372612	NM_007056.3(CLASRP):c.1447G>A (p.Gly483Ser)	CLASRP (G483S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465741	NM_007056.3(CLASRP):c.1448G>A (p.Gly483Asp)	CLASRP (G421D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554904	NM_007056.3(CLASRP):c.1498C>T (p.Leu500Phe)	CLASRP (L500F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401763	NM_007056.3(CLASRP):c.1510C>T (p.Arg504Cys)	CLASRP (R442C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484410	NM_007056.3(CLASRP):c.1516C>T (p.Arg506Cys)	CLASRP (R506C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2623058	NM_007056.3(CLASRP):c.1517G>A (p.Arg506His)	CLASRP (R506H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611612	NM_007056.3(CLASRP):c.1571G>T (p.Arg524Leu)	CLASRP (R462L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612308	NM_007056.3(CLASRP):c.1589A>G (p.Gln530Arg)	CLASRP (Q468R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349385	NM_007056.3(CLASRP):c.1607C>T (p.Pro536Leu)	CLASRP (P474L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2343870	NM_007056.3(CLASRP):c.1622T>C (p.Leu541Pro)	CLASRP (L479P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411579	NM_007056.3(CLASRP):c.1633G>C (p.Ala545Pro)	CLASRP (A545P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279337	NM_007056.3(CLASRP):c.1742G>A (p.Arg581Lys)	CLASRP (R581K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338228	NM_007056.3(CLASRP):c.1829A>T (p.Glu610Val)	CLASRP (E610V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279421	NM_007056.3(CLASRP):c.1868G>A (p.Arg623His)	CLASRP (R561H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607597	NM_007056.3(CLASRP):c.1928G>A (p.Arg643Gln)	CLASRP (R581Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520175	NM_007056.3(CLASRP):c.2011C>T (p.His671Tyr)	CLASRP (H609Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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: 42