PALM2AKAP2[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 145

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 145648	GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1	ABCA1, ABITRAM +310 more	Copy number loss	See cases	GPathogenic
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	PALM2AKAP2, PAPPA +377 more	Copy number loss	See cases	GPathogenic
Select item 2461847	NM_007203.5(PALM2AKAP2):c.35A>G (p.Gln12Arg)	PALM2, PALM2AKAP2 (Q12R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208198	NM_007203.5(PALM2AKAP2):c.97G>A (p.Glu33Lys)	PALM2, PALM2AKAP2 (E33K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208142	NM_007203.5(PALM2AKAP2):c.140G>A (p.Arg47Gln)	PALM2, PALM2AKAP2 (R47Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208151	NM_007203.5(PALM2AKAP2):c.169G>A (p.Ala57Thr)	PALM2, PALM2AKAP2 (A57T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208154	NM_007203.5(PALM2AKAP2):c.181G>A (p.Glu61Lys)	PALM2, PALM2AKAP2 (E61K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208165	NM_007203.5(PALM2AKAP2):c.232A>G (p.Lys78Glu)	PALM2, PALM2AKAP2 (K80E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208176	NM_007203.5(PALM2AKAP2):c.289G>A (p.Glu97Lys)	PALM2, PALM2AKAP2 (E97K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208187	NM_007203.5(PALM2AKAP2):c.386C>A (p.Thr129Lys)	PALM2, PALM2AKAP2 (T131K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208188	NM_007203.5(PALM2AKAP2):c.449G>A (p.Arg150Gln)	PALM2, PALM2AKAP2 (R150Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 152161	GRCh38/hg38 9q31.3(chr9:109985223-110170459)x3	LOC126860727, LOC130002339 +7 more	Copy number gain	See cases	GUncertain significance
Select item 3208189	NM_007203.5(PALM2AKAP2):c.499G>A (p.Val167Ile)	PALM2AKAP2 (V167I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208190	NM_007203.5(PALM2AKAP2):c.547G>A (p.Ala183Thr)	PALM2AKAP2 (A183T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208191	NM_007203.5(PALM2AKAP2):c.565C>G (p.Pro189Ala)	PALM2AKAP2 (P189A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 145939	GRCh38/hg38 9q31.3(chr9:110020137-110219177)x3	C9orf152, LOC126860727 +9 more	Copy number gain	See cases	GLikely benign
Select item 252563	NM_007203.5(PALM2AKAP2):c.582+32724_582+32741del	PALM2AKAP2	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GBenign
Select item 734613	NM_007203.5(PALM2AKAP2):c.582+32780A>G	PALM2AKAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 161812	NM_007203.5(PALM2AKAP2):c.625G>T (p.Glu209Ter)	PALM2AKAP2 (E209* +1 more)	Single nucleotide variant (nonsense +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 3304134	NM_007203.5(PALM2AKAP2):c.638A>G (p.Tyr213Cys)	PALM2AKAP2 (Y213C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3208193	NM_007203.5(PALM2AKAP2):c.692A>G (p.Asn231Ser)	PALM2AKAP2 (N89S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304131	NM_007203.5(PALM2AKAP2):c.704A>G (p.Glu235Gly)	PALM2AKAP2 (E235G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777836	NM_007203.5(PALM2AKAP2):c.752C>T (p.Pro251Leu)	PALM2AKAP2 (P109L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3208194	NM_007203.5(PALM2AKAP2):c.775G>A (p.Ala259Thr)	PALM2AKAP2 (A117T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723313	NM_007203.5(PALM2AKAP2):c.777T>C (p.Ala259=)	PALM2AKAP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3304132	NM_007203.5(PALM2AKAP2):c.830A>G (p.Asp277Gly)	PALM2AKAP2 (D135G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607185	NM_007203.5(PALM2AKAP2):c.851T>A (p.Ile284Asn)	PALM2AKAP2 (I53N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208195	NM_007203.5(PALM2AKAP2):c.853C>T (p.Arg285Cys)	PALM2AKAP2 (R143C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208196	NM_007203.5(PALM2AKAP2):c.857A>G (p.Tyr286Cys)	PALM2AKAP2 (Y144C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588102	NM_007203.5(PALM2AKAP2):c.863A>G (p.Asp288Gly)	PALM2AKAP2 (D57G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781172	NM_007203.5(PALM2AKAP2):c.884G>A (p.Cys295Tyr)	PALM2AKAP2 (C64Y +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3208197	NM_007203.5(PALM2AKAP2):c.914A>G (p.Asn305Ser)	PALM2AKAP2 (N74S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595885	NM_007203.5(PALM2AKAP2):c.938G>A (p.Gly313Asp)	PALM2AKAP2 (G171D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545910	NM_007203.5(PALM2AKAP2):c.946G>T (p.Val316Phe)	PALM2AKAP2 (V316F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776440	NM_007203.5(PALM2AKAP2):c.978C>T (p.His326=)	PALM2AKAP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3208199	NM_007203.5(PALM2AKAP2):c.983C>T (p.Ala328Val)	PALM2AKAP2 (A186V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781185	NM_007203.5(PALM2AKAP2):c.1019G>A (p.Arg340Gln)	PALM2AKAP2 (R109Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3208137	NM_007203.5(PALM2AKAP2):c.1023G>T (p.Gln341His)	PALM2AKAP2 (Q110H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489155	NM_007203.5(PALM2AKAP2):c.1095T>G (p.His365Gln)	PALM2AKAP2 (H134Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508610	NM_007203.5(PALM2AKAP2):c.1150C>T (p.Pro384Ser)	PALM2AKAP2 (P384S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208138	NM_007203.5(PALM2AKAP2):c.1166G>T (p.Ser389Ile)	PALM2AKAP2 (S158I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454644	NM_007203.5(PALM2AKAP2):c.1184G>A (p.Arg395Gln)	PALM2AKAP2 (R395Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777837	NM_007203.5(PALM2AKAP2):c.1210C>T (p.Leu404=)	PALM2AKAP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2601368	NM_007203.5(PALM2AKAP2):c.1238G>A (p.Arg413His)	PALM2AKAP2 (R182H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608047	NM_007203.5(PALM2AKAP2):c.1264T>G (p.Ser422Ala)	PALM2AKAP2 (S422A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304133	NM_007203.5(PALM2AKAP2):c.1281T>G (p.Asp427Glu)	PALM2AKAP2 (D285E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208139	NM_007203.5(PALM2AKAP2):c.1284C>G (p.Asp428Glu)	PALM2AKAP2 (D428E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208140	NM_007203.5(PALM2AKAP2):c.1286A>G (p.Glu429Gly)	PALM2AKAP2 (E287G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494405	NM_007203.5(PALM2AKAP2):c.1289A>G (p.His430Arg)	PALM2AKAP2 (H199R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2605473	NM_007203.5(PALM2AKAP2):c.1346T>G (p.Leu449Arg)	PALM2AKAP2 (L218R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538743	NM_007203.5(PALM2AKAP2):c.1373G>A (p.Arg458His)	PALM2AKAP2 (R316H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208141	NM_007203.5(PALM2AKAP2):c.1406C>T (p.Ala469Val)	PALM2AKAP2 (A238V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208144	NM_007203.5(PALM2AKAP2):c.1416G>T (p.Trp472Cys)	PALM2AKAP2 (W472C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208145	NM_007203.5(PALM2AKAP2):c.1423C>T (p.Pro475Ser)	PALM2AKAP2 (P244S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208146	NM_007203.5(PALM2AKAP2):c.1477C>T (p.His493Tyr)	PALM2AKAP2 (H262Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208147	NM_007203.5(PALM2AKAP2):c.1484A>G (p.Lys495Arg)	PALM2AKAP2 (K264R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617697	NM_007203.5(PALM2AKAP2):c.1494G>C (p.Glu498Asp)	PALM2AKAP2 (E498D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478279	NM_007203.5(PALM2AKAP2):c.1495C>T (p.Arg499Cys)	PALM2AKAP2 (R499C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208148	NM_007203.5(PALM2AKAP2):c.1589C>T (p.Pro530Leu)	PALM2AKAP2 (P388L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208149	NM_007203.5(PALM2AKAP2):c.1602T>G (p.His534Gln)	PALM2AKAP2 (H303Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790073	NM_007203.5(PALM2AKAP2):c.1606C>T (p.Arg536Cys)	PALM2AKAP2 (R305C +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3208150	NM_007203.5(PALM2AKAP2):c.1616T>C (p.Met539Thr)	PALM2AKAP2 (M397T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508760	NM_007203.5(PALM2AKAP2):c.1637A>T (p.Asp546Val)	PALM2AKAP2 (D546V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515421	NM_007203.5(PALM2AKAP2):c.1690A>T (p.Met564Leu)	PALM2AKAP2 (M422L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208152	NM_007203.5(PALM2AKAP2):c.1708G>A (p.Ala570Thr)	PALM2AKAP2 (A428T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3208153	NM_007203.5(PALM2AKAP2):c.1781A>C (p.Asn594Thr)	PALM2AKAP2 (N452T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788278	NM_007203.5(PALM2AKAP2):c.1891C>A (p.Pro631Thr)	PALM2AKAP2 (P489T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3208155	NM_007203.5(PALM2AKAP2):c.1957T>G (p.Ser653Ala)	PALM2AKAP2 (S422A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208156	NM_007203.5(PALM2AKAP2):c.2006C>T (p.Thr669Met)	PALM2AKAP2 (T438M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208157	NM_007203.5(PALM2AKAP2):c.2011G>A (p.Ala671Thr)	PALM2AKAP2 (A440T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208158	NM_007203.5(PALM2AKAP2):c.2015G>C (p.Arg672Pro)	PALM2AKAP2 (R672P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476239	NM_007203.5(PALM2AKAP2):c.2015G>A (p.Arg672Gln)	PALM2AKAP2 (R530Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559016	NM_007203.5(PALM2AKAP2):c.2078T>C (p.Val693Ala)	PALM2AKAP2 (V462A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208159	NM_007203.5(PALM2AKAP2):c.2104C>T (p.Leu702Phe)	PALM2AKAP2 (L471F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208160	NM_007203.5(PALM2AKAP2):c.2129C>T (p.Ser710Leu)	PALM2AKAP2 (S710L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739665	NM_007203.5(PALM2AKAP2):c.2202C>T (p.Ser734=)	PALM2AKAP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3208161	NM_007203.5(PALM2AKAP2):c.2225A>G (p.Asn742Ser)	PALM2AKAP2 (N600S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208162	NM_007203.5(PALM2AKAP2):c.2260C>G (p.Leu754Val)	PALM2AKAP2 (L523V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208163	NM_007203.5(PALM2AKAP2):c.2300G>A (p.Arg767Gln)	PALM2AKAP2 (R536Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540832	NM_007203.5(PALM2AKAP2):c.2311G>A (p.Val771Ile)	PALM2AKAP2 (V540I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208164	NM_007203.5(PALM2AKAP2):c.2317A>C (p.Lys773Gln)	PALM2AKAP2 (K542Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304129	NM_007203.5(PALM2AKAP2):c.2318A>G (p.Lys773Arg)	PALM2AKAP2 (K542R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208166	NM_007203.5(PALM2AKAP2):c.2347C>A (p.Pro783Thr)	PALM2AKAP2 (P552T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752363	NM_007203.5(PALM2AKAP2):c.2358G>A (p.Thr786=)	PALM2AKAP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3208167	NM_007203.5(PALM2AKAP2):c.2362G>A (p.Gly788Arg)	PALM2AKAP2 (G646R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2