PRR5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
Select item 146215	GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	LOC130067605, LOC130067606 +303 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC126863187, LOC126863188 +523 more	Copy number gain	See cases	GPathogenic
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 147622	GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1	A4GALT, ALG12 +428 more	Copy number loss	See cases	GPathogenic
Select item 57944	GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	A4GALT, ADM2 +502 more	Copy number gain	See cases	GPathogenic
Select item 57945	GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	LOC126863187, LOC126863188 +495 more	Copy number gain	See cases	GPathogenic
Select item 148050	GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	CIMAP1B, CPT1B +492 more	Copy number gain	See cases	GPathogenic
Select item 57669	GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	LOC130067640, LOC130067641 +483 more	Copy number loss	See cases	GPathogenic
Select item 152914	GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	ADM2, ALG12 +481 more	Copy number loss	See cases	GPathogenic
Select item 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 152340	GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1	ACR, ADM2 +451 more	Copy number loss	See cases	GPathogenic
Select item 976870	NC_000022.11:g.43802117_50806121del	DENND6B, EFCAB6 +443 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57670	GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1	ACR, ADM2 +441 more	Copy number loss	See cases	GPathogenic
Select item 146121	GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1	ACR, ADM2 +434 more	Copy number loss	See cases	GPathogenic
Select item 146895	GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3	ADM2, ALG12 +428 more	Copy number gain	See cases	GBenign
Select item 2499652	GRCh38/hg38 22q13.31(chr22:44184196-45239435)	ARHGAP8, KIAA0930 +39 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 976875	NC_000022.11:g.44245760_50806121del	LOC121627953, LOC121627954 +411 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 144383	GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1	ACR, ADM2 +401 more	Copy number loss	See cases	GPathogenic
Select item 3219531	NM_001198721.2(PRR5):c.40T>C (p.Ser14Pro)	PRR5 (S14P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346782	NM_001198721.2(PRR5):c.41C>T (p.Ser14Leu)	PRR5 (S14L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330462	NM_001198721.2(PRR5):c.60G>A (p.Met20Ile)	PRR5 (M20I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310503	NM_001198721.2(PRR5):c.65C>T (p.Ala22Val)	PRR5 (A22V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219536	NM_001198721.2(PRR5):c.76G>T (p.Gly26Cys)	PRR5 (G26C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 976876	NC_000022.11:g.44702479_50806138del	CPT1B, CRELD2 +401 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 3219542	NM_181334.6(PRR5-ARHGAP8):c.61A>G (p.Arg21Gly)	PRR5, PRR5-ARHGAP8 (R21G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 156717	NM_181334.6(PRR5-ARHGAP8):c.166C>A (p.Arg56Ser)	PRR5-ARHGAP8, PRR5 (R47S +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	Gnot provided
Select item 2265088	NM_181333.4(PRR5):c.321G>T (p.Glu107Asp)	PRR5, PRR5-ARHGAP8 (E98D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221223	NM_181333.4(PRR5):c.361T>G (p.Phe121Val)	PRR5, PRR5-ARHGAP8 (F112V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326407	NM_181333.4(PRR5):c.362T>A (p.Phe121Tyr)	PRR5, PRR5-ARHGAP8 (F26Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310501	NM_181333.4(PRR5):c.367T>C (p.Phe123Leu)	PRR5, PRR5-ARHGAP8 (F146L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310507	NM_181333.4(PRR5):c.385A>G (p.Met129Val)	PRR5, PRR5-ARHGAP8 (M120V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310504	NM_181333.4(PRR5):c.400T>C (p.Phe134Leu)	PRR5, PRR5-ARHGAP8 (F134L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219532	NM_181333.4(PRR5):c.442G>A (p.Ala148Thr)	PRR5, PRR5-ARHGAP8 (A139T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234058	NM_181333.4(PRR5):c.475A>G (p.Ser159Gly)	PRR5, PRR5-ARHGAP8 (S150G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486107	NM_181333.4(PRR5):c.476G>A (p.Ser159Asn)	PRR5, PRR5-ARHGAP8 (S182N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226554	NM_181333.4(PRR5):c.494C>T (p.Ala165Val)	PRR5, PRR5-ARHGAP8 (A165V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346976	NM_181333.4(PRR5):c.503G>A (p.Arg168Gln)	PRR5, PRR5-ARHGAP8 (R73Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260005	NM_181333.4(PRR5):c.514C>T (p.Arg172Cys)	PRR5, PRR5-ARHGAP8 (R172C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219534	NM_181333.4(PRR5):c.523C>G (p.Pro175Ala)	PRR5, PRR5-ARHGAP8 (P175A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219535	NM_181333.4(PRR5):c.548T>C (p.Val183Ala)	PRR5, PRR5-ARHGAP8 (V174A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468706	NM_181333.4(PRR5):c.577G>A (p.Val193Met)	PRR5, PRR5-ARHGAP8 (V184M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310506	NM_181333.4(PRR5):c.583G>A (p.Glu195Lys)	PRR5, PRR5-ARHGAP8 (E100K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2553615	NM_181333.4(PRR5):c.709C>T (p.Arg237Cys)	PRR5, PRR5-ARHGAP8 (R142C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260137	NM_181333.4(PRR5):c.752G>A (p.Arg251His)	PRR5, PRR5-ARHGAP8 (R156H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281567	NM_181333.4(PRR5):c.783C>G (p.Asn261Lys)	PRR5, PRR5-ARHGAP8 (N166K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219538	NM_181333.4(PRR5):c.802G>C (p.Ala268Pro)	PRR5, PRR5-ARHGAP8 (A291P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219539	NM_181333.4(PRR5):c.823G>A (p.Gly275Ser)	PRR5, PRR5-ARHGAP8 (G180S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653275	NM_181333.4(PRR5):c.871G>A (p.Glu291Lys)	PRR5, PRR5-ARHGAP8 (E196K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2234384	NM_181333.4(PRR5):c.904G>T (p.Gly302Cys)	PRR5, PRR5-ARHGAP8 (G325C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519010	NM_181333.4(PRR5):c.935C>T (p.Ala312Val)	PRR5, PRR5-ARHGAP8 (A335V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603507	NM_181333.4(PRR5):c.959G>C (p.Ser320Thr)	PRR5, PRR5-ARHGAP8 (S320T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283698	NM_181333.4(PRR5):c.1009C>T (p.Arg337Cys)	PRR5, PRR5-ARHGAP8 (R242C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220302	NM_181333.4(PRR5):c.1025G>A (p.Arg342His)	PRR5, PRR5-ARHGAP8 (R333H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3219530	NM_181333.4(PRR5):c.1028C>T (p.Ser343Phe)	PRR5, PRR5-ARHGAP8 (S248F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310505	NM_181333.4(PRR5):c.1105C>T (p.Arg369Trp)	PRR5, PRR5-ARHGAP8 (R360W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062463	GRCh37/hg19 22q13.2-13.31(chr22:43920110-46548382)x1	ARHGAP8, ATXN10 +24 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 3062449	GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	ACR, ADM2 +69 more	Copy number loss	not specified	GPathogenic
Select item 3062442	GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	CELSR1, CERK +64 more	Copy number loss	not specified	GPathogenic
Select item 2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	PANX2, PARVB +71 more	Copy number loss	not provided	GPathogenic
Select item 1808266	GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1	ADM2, ALG12 +64 more	Copy number loss	not provided	GPathogenic
Select item 1807817	GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1	ACR, ADM2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1803808	GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3	MIOX, MPPED1 +76 more	Copy number gain	not provided	GPathogenic
Select item 1526739	GRCh37/hg19 22q13.2-13.31(chr22:43451316-46662660)	ARHGAP8, ATXN10 +33 more	Copy number loss	not specified	GPathogenic
Select item 1526738	GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838)	A4GALT, ACR +82 more	Copy number loss	not specified	GPathogenic
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	A4GALT, ACR +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 979613	GRCh37/hg19 22q13.31(chr22:44795975-45297787)x3	PRR5-ARHGAP8, ARHGAP8 +3 more	Copy number gain	not provided	GUncertain significance
Select item 979612	GRCh37/hg19 22q13.31(chr22:44649786-45866882)x3	PRR5, RIBC2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 979611	GRCh37/hg19 22q13.31(chr22:44705738-45475334)x3	PRR5, PRR5-ARHGAP8 +4 more	Copy number gain	not provided	GUncertain significance
Select item 932299	Single allele	ATXN10, BRD1 +45 more	Copy number loss	22q13.3 interstitial deletion	GPathogenic
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816502	GRCh37/hg19 22q13.31(chr22:44642723-45340485)x3	SHISAL1, RTL6 +4 more	Copy number gain	See cases	GUncertain significance
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 625738	GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759)	ACR, ADM2 +60 more	Copy number loss	not provided	GPathogenic
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 565054	GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1	A4GALT, ACR +83 more	Copy number loss	not provided	GPathogenic
Select item 565053	GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1	A4GALT, ACR +79 more	Copy number loss	not provided	GPathogenic
Select item 565052	GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1	ACR, ADM2 +77 more	Copy number loss	not provided	GPathogenic
Select item 565051	GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1	ACR, ADM2 +61 more	Copy number loss	not provided	GPathogenic
Select item 443581	GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1	A4GALT, ACR +79 more	Copy number loss	See cases	GPathogenic
Select item 442593	GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1	ACR, ADM2 +70 more	Copy number loss	See cases	GPathogenic
Select item 441707	GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1	ACR, ADM2 +77 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441574	GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1	A4GALT, ACR +91 more	Copy number loss	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 393900	GRCh37/hg19 22q13.31(chr22:45075189-45133255)x3	PRR5, PRR5-ARHGAP8	Copy number gain	See cases	GLikely benign
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic

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