PROSER2[gene] - ClinVar

Search results

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 147372	GRCh38/hg38 10p14-13(chr10:11712990-12319959)x3	CDC123, DHTKD1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 149272	GRCh38/hg38 10p14(chr10:11738467-12180308)x1	DHTKD1, ECHDC3 +27 more	Copy number loss	See cases	GUncertain significance
Select item 3219102	NM_153256.4(PROSER2):c.53C>T (p.Ser18Phe)	PROSER2, PROSER2-AS1 (S18F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554104	NM_153256.4(PROSER2):c.101G>A (p.Ser34Asn)	PROSER2, PROSER2-AS1 (S34N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789200	NM_153256.4(PROSER2):c.119G>A (p.Arg40His)	PROSER2, PROSER2-AS1 (R40H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 708078	NM_153256.4(PROSER2):c.138+8A>G	PROSER2, PROSER2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 770760	NM_153256.4(PROSER2):c.280C>T (p.Leu94=)	PROSER2, PROSER2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3219098	NM_153256.4(PROSER2):c.301C>T (p.Pro101Ser)	PROSER2, PROSER2-AS1 (P101S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239997	NM_153256.4(PROSER2):c.322A>G (p.Ile108Val)	PROSER2, PROSER2-AS1 (I108V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569080	NM_153256.4(PROSER2):c.352G>A (p.Gly118Arg)	PROSER2, PROSER2-AS1 (G118R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2485950	NM_153256.4(PROSER2):c.437C>T (p.Thr146Ile)	PROSER2, PROSER2-AS1 (T146I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731833	NM_153256.4(PROSER2):c.438T>G (p.Thr146=)	PROSER2, PROSER2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3219099	NM_153256.4(PROSER2):c.479C>A (p.Ala160Glu)	PROSER2, PROSER2-AS1 (A160E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219100	NM_153256.4(PROSER2):c.512C>G (p.Pro171Arg)	PROSER2, PROSER2-AS1 (P171R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367102	NM_153256.4(PROSER2):c.538C>G (p.Pro180Ala)	PROSER2, PROSER2-AS1 (P180A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219101	NM_153256.4(PROSER2):c.539C>G (p.Pro180Arg)	PROSER2, PROSER2-AS1 (P180R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219103	NM_153256.4(PROSER2):c.563T>A (p.Leu188Gln)	PROSER2, PROSER2-AS1 (L188Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773533	NM_153256.4(PROSER2):c.644C>T (p.Ser215Phe)	PROSER2, PROSER2-AS1 (S215F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2609464	NM_153256.4(PROSER2):c.661C>T (p.Arg221Trp)	PROSER2, PROSER2-AS1 (R221W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219105	NM_153256.4(PROSER2):c.662G>A (p.Arg221Gln)	PROSER2, PROSER2-AS1 (R221Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374988	NM_153256.4(PROSER2):c.682C>T (p.Pro228Ser)	PROSER2, PROSER2-AS1 (P228S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595559	NM_153256.4(PROSER2):c.767A>G (p.Asn256Ser)	PROSER2, PROSER2-AS1 (N256S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559267	NM_153256.4(PROSER2):c.794G>A (p.Arg265Gln)	PROSER2, PROSER2-AS1 (R265Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395458	NM_153256.4(PROSER2):c.794G>C (p.Arg265Pro)	PROSER2, PROSER2-AS1 (R265P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490605	NM_153256.4(PROSER2):c.827T>C (p.Val276Ala)	PROSER2, PROSER2-AS1 (V276A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492254	NM_153256.4(PROSER2):c.836A>G (p.Gln279Arg)	PROSER2, PROSER2-AS1 (Q279R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375364	NM_153256.4(PROSER2):c.844A>T (p.Arg282Trp)	PROSER2, PROSER2-AS1 (R282W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024878	NM_153256.4(PROSER2):c.889C>A (p.Pro297Thr)	PROSER2, PROSER2-AS1 (P297T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2389253	NM_153256.4(PROSER2):c.932C>T (p.Ser311Phe)	PROSER2, PROSER2-AS1 (S311F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385355	NM_153256.4(PROSER2):c.935C>T (p.Ser312Phe)	PROSER2, PROSER2-AS1 (S312F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219107	NM_153256.4(PROSER2):c.943C>T (p.Arg315Trp)	PROSER2, PROSER2-AS1 (R315W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549315	NM_153256.4(PROSER2):c.967C>T (p.Pro323Ser)	PROSER2, PROSER2-AS1 (P323S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770393	NM_153256.4(PROSER2):c.968C>G (p.Pro323Arg)	PROSER2, PROSER2-AS1 (P323R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2491347	NM_153256.4(PROSER2):c.970G>C (p.Gly324Arg)	PROSER2, PROSER2-AS1 (G324R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462888	NM_153256.4(PROSER2):c.980A>G (p.Glu327Gly)	PROSER2, PROSER2-AS1 (E327G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591845	NM_153256.4(PROSER2):c.985C>T (p.Leu329Phe)	PROSER2, PROSER2-AS1 (L329F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262693	NM_153256.4(PROSER2):c.991G>A (p.Ala331Thr)	PROSER2, PROSER2-AS1 (A331T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221344	NM_153256.4(PROSER2):c.994G>A (p.Gly332Arg)	PROSER2, PROSER2-AS1 (G332R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407330	NM_153256.4(PROSER2):c.1009C>T (p.Arg337Trp)	PROSER2, PROSER2-AS1 (R337W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311163	NM_153256.4(PROSER2):c.1012G>T (p.Gly338Cys)	PROSER2, PROSER2-AS1 (G338C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494944	NM_153256.4(PROSER2):c.1015C>T (p.Pro339Ser)	PROSER2, PROSER2-AS1 (P339S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611532	NM_153256.4(PROSER2):c.1016C>G (p.Pro339Arg)	PROSER2, PROSER2-AS1 (P339R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219095	NM_153256.4(PROSER2):c.1028A>G (p.Asn343Ser)	PROSER2, PROSER2-AS1 (N343S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482018	NM_153256.4(PROSER2):c.1045C>T (p.His349Tyr)	PROSER2, PROSER2-AS1 (H349Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316926	NM_153256.4(PROSER2):c.1051G>T (p.Ala351Ser)	PROSER2, PROSER2-AS1 (A351S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267254	NM_153256.4(PROSER2):c.1055T>C (p.Leu352Pro)	PROSER2, PROSER2-AS1 (L352P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219096	NM_153256.4(PROSER2):c.1084G>A (p.Ala362Thr)	PROSER2, PROSER2-AS1 (A362T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2481900	NM_153256.4(PROSER2):c.1117G>T (p.Ala373Ser)	PROSER2, PROSER2-AS1 (A373S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228269	NM_153256.4(PROSER2):c.1132C>T (p.Arg378Trp)	PROSER2, PROSER2-AS1 (R378W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462193	NM_153256.4(PROSER2):c.1138C>A (p.Arg380Ser)	PROSER2, PROSER2-AS1 (R380S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377788	NM_153256.4(PROSER2):c.1156C>T (p.Pro386Ser)	PROSER2, PROSER2-AS1 (P386S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377820	NM_153256.4(PROSER2):c.1159C>T (p.Arg387Trp)	PROSER2, PROSER2-AS1 (R387W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294072	NM_153256.4(PROSER2):c.1175C>G (p.Ala392Gly)	PROSER2, PROSER2-AS1 (A392G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3219097	NM_153256.4(PROSER2):c.1179G>C (p.Gln393His)	PROSER2, PROSER2-AS1 (Q393H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776495	NM_153256.4(PROSER2):c.1200C>T (p.Ser400=)	PROSER2, PROSER2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776496	NM_153256.4(PROSER2):c.1239C>T (p.Gly413=)	PROSER2, PROSER2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779106	NM_153256.4(PROSER2):c.1284G>A (p.Leu428=)	PROSER2, PROSER2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2325224	NM_153256.4(PROSER2):c.1298A>G (p.Glu433Gly)	PROSER2, PROSER2-AS1 (E433G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291400	NM_153256.4(PROSER2):c.1303T>A (p.Ser435Thr)	PROSER2, PROSER2-AS1 (S435T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148909	GRCh37/hg19 10p15.3-14(chr10:1274308-12045503)x3	ADARB2, AKR1C1 +35 more	Copy number gain	See cases	GUncertain significance
Select item 3063134	GRCh37/hg19 10p14(chr10:10296118-11974769)x1	CELF2, ECHDC3 +3 more	Copy number loss	not specified	GUncertain significance
Select item 2685369	GRCh37/hg19 10p14(chr10:11875716-11929833)x1	PROSER2	Copy number loss	not provided	GUncertain significance
Select item 2684595	GRCh37/hg19 10p14-13(chr10:10175327-13529362)x3	BEND7, CAMK1D +15 more	Copy number gain	not provided	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 1808795	GRCh37/hg19 10p14(chr10:11713298-11897052)x1	ECHDC3, PROSER2	Copy number loss	not provided	GUncertain significance
Select item 1807587	GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	CDC123, CELF2 +47 more	Copy number gain	not provided	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1047870	GRCh37/hg19 10p14-13(chr10:9137489-17227168)	ACBD7, BEND7 +36 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 686673	GRCh37/hg19 10p14-13(chr10:11435205-12314999)x1	CDC123, DHTKD1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442589	GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1	ADARB2, AKR1C1 +47 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic

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Items: 87