11129[Gene ID] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 2225707	NM_007056.3(CLASRP):c.268C>A (p.Pro90Thr)	CLASRP (P90T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2263427	NM_007056.3(CLASRP):c.277A>T (p.Thr93Ser)	CLASRP (T93S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2650091	NM_007056.3(CLASRP):c.279C>G (p.Thr93=)	CLASRP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3145318	NM_007056.3(CLASRP):c.281C>G (p.Pro94Arg)	CLASRP (P94R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2347045	NM_007056.3(CLASRP):c.283C>T (p.Pro95Ser)	CLASRP (P95S)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	GUncertain significance
Select item 3145319	NM_007056.3(CLASRP):c.325C>T (p.Arg109Trp)	CLASRP (R47W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145320	NM_007056.3(CLASRP):c.364A>C (p.Asn122His)	CLASRP (N60H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145321	NM_007056.3(CLASRP):c.376G>A (p.Gly126Ser)	CLASRP (G126S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145322	NM_007056.3(CLASRP):c.389A>G (p.Glu130Gly)	CLASRP (E68G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2650092	NM_007056.3(CLASRP):c.564G>A (p.Ala188=)	CLASRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2271912	NM_007056.3(CLASRP):c.616G>A (p.Val206Met)	CLASRP (V206M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3145323	NM_007056.3(CLASRP):c.833G>A (p.Arg278Gln)	CLASRP (R278Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650093	NM_007056.3(CLASRP):c.864-3T>C	CLASRP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3145324	NM_007056.3(CLASRP):c.872G>A (p.Arg291His)	CLASRP (R229H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145325	NM_007056.3(CLASRP):c.875G>A (p.Arg292Gln)	CLASRP (R230Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3145326	NM_007056.3(CLASRP):c.980C>T (p.Thr327Met)	CLASRP (T265M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3267514	NM_007056.3(CLASRP):c.1243G>A (p.Ala415Thr)	CLASRP (A353T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145311	NM_007056.3(CLASRP):c.1258C>G (p.Arg420Gly)	CLASRP (R420G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650094	NM_007056.3(CLASRP):c.1272CTCCCG[4] (p.Arg430_Arg431insSerArg)	CLASRP	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
Select item 2390351	NM_007056.3(CLASRP):c.1266G>C (p.Trp422Cys)	CLASRP (W422C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3145312	NM_007056.3(CLASRP):c.1288C>G (p.Arg430Gly)	CLASRP (R430G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3145313	NM_007056.3(CLASRP):c.1385G>A (p.Gly462Asp)	CLASRP (G462D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3145314	NM_007056.3(CLASRP):c.1436A>G (p.Tyr479Cys)	CLASRP (Y417C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267513	NM_007056.3(CLASRP):c.1442G>A (p.Arg481Gln)	CLASRP (R419Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3145315	NM_007056.3(CLASRP):c.1450C>T (p.Arg484Trp)	CLASRP (R422W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145316	NM_007056.3(CLASRP):c.1451G>A (p.Arg484Gln)	CLASRP (R422Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3267515	NM_007056.3(CLASRP):c.1600C>A (p.Pro534Thr)	CLASRP (P472T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 1526667	GRCh37/hg19 19q13.31-13.32(chr19:45074342-46133841)	APOC1, APOC2 +36 more	Copy number gain	not specified	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	OPA3, PPP1R37 +74 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442437	GRCh37/hg19 19q13.31-13.32(chr19:44300416-45639540)x1	APOC1, APOC2 +39 more	Copy number loss	See cases	GUncertain significance
Select item 253776	GRCh37/hg19 19q13.32(chr19:45284576-45978239)x3	NECTIN2, APOE +24 more	Copy number gain	See cases	GUncertain significance
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic

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Items: 74