PROSER3[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 2400305	NM_001367856.1(PROSER3):c.50A>T (p.Asp17Val)	PROSER3 (M1L +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2613916	NM_001367856.1(PROSER3):c.151G>A (p.Ala51Thr)	PROSER3 (A51T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2514148	NM_001367856.1(PROSER3):c.350G>C (p.Arg117Pro)	PROSER3 (R117P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384822	NM_001367856.1(PROSER3):c.350G>A (p.Arg117Gln)	PROSER3 (R17Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219108	NM_001367856.1(PROSER3):c.379C>T (p.Pro127Ser)	PROSER3 (P127S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520072	NM_001367856.1(PROSER3):c.488C>T (p.Ala163Val)	PROSER3 (A162V +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2263103	NM_001367856.1(PROSER3):c.623G>T (p.Arg208Leu)	PROSER3 (R123L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522504	NM_001367856.1(PROSER3):c.641C>T (p.Ser214Phe)	PROSER3 (S214F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219109	NM_001367856.1(PROSER3):c.736G>A (p.Asp246Asn)	PROSER3 (D135N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352091	NM_001367856.1(PROSER3):c.776C>T (p.Pro259Leu)	PROSER3 (P148L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223133	NM_001367856.1(PROSER3):c.799C>A (p.Pro267Thr)	PROSER3 (P182T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397432	NM_001367856.1(PROSER3):c.841C>T (p.Arg281Trp)	PROSER3 (R170W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561435	NM_001367856.1(PROSER3):c.842G>A (p.Arg281Gln)	PROSER3 (R185Q +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3219110	NM_001367856.1(PROSER3):c.866A>G (p.Gln289Arg)	PROSER3 (Q178R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230933	NM_001367856.1(PROSER3):c.878G>A (p.Arg293Gln)	PROSER3 (R207Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219111	NM_001367856.1(PROSER3):c.949C>T (p.Arg317Cys)	PROSER3 (R232C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649755	NM_001367856.1(PROSER3):c.1018C>T (p.Leu340=)	PROSER3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2278116	NM_001367856.1(PROSER3):c.1772C>G (p.Ala591Gly)	PROSER3 (A266G +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533870	NM_001367856.1(PROSER3):c.1782G>C (p.Gln594His)	PROSER3 (Q498H +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353508	NM_001367856.1(PROSER3):c.1835C>A (p.Pro612Gln)	PROSER3 (P287Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518972	NM_001367856.1(PROSER3):c.1838C>T (p.Pro613Leu)	PROSER3 (P527L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377900	NM_001367856.1(PROSER3):c.1999A>G (p.Arg667Gly)	PROSER3 (R342G +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	FXYD5, FXYD7 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1412985	NC_000019.9:g.(?_35521725)_(36643309_?)del	PSENEN, RBM42 +54 more	Deletion	Brugada syndrome 5	GUncertain significance
Select item 1340392	GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3	ALKBH6, APLP1 +28 more	Copy number gain	not provided	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 812929	Single allele	MAG, FXYD5 +33 more	Deletion	Dystonic disorder	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 625761	GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644)	ARHGAP33, ATP4A +44 more	Copy number loss	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442794	GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1	ALKBH6, APLP1 +39 more	Copy number loss	See cases	GUncertain significance
Select item 221541	GRCh37/hg19 19q13.12(chr19:36227660-36250792)x3	HSPB6, IGFLR1 +5 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221399	GRCh37/hg19 19q13.12(chr19:36227660-36268769)x3	ARHGAP33, HSPB6 +6 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 40