PROSER2-AS1[gene] - ClinVar

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

Search results

Items: 68

	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

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: 68