MAPK7[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 160

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	LOC130060373, LOC130060374 +333 more	Copy number gain	See cases	GPathogenic
Select item 58107	GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3	ADORA2B, AKAP10 +337 more	Copy number gain	See cases	GPathogenic
Select item 155418	GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1	ADORA2B, AKAP10 +314 more	Copy number loss	See cases	GPathogenic
Select item 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	LOC130060409, LOC130060410 +311 more	Copy number loss	See cases	GPathogenic
Select item 155110	GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 150691	GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 57018	GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 155648	GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3	AKAP10, ALDH3A1 +281 more	Copy number gain	See cases	GPathogenic
Select item 150743	GRCh38/hg38 17p11.2(chr17:16656162-20390697)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 58110	GRCh38/hg38 17p11.2(chr17:16656168-20390725)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 58113	GRCh38/hg38 17p11.2(chr17:16692462-20390725)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 155314	GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3	AKAP10, ALDH3A1 +251 more	Copy number gain	See cases	GPathogenic
Select item 151506	GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3	AKAP10, ALDH3A1 +252 more	Copy number gain	See cases	GPathogenic
Select item 155114	GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1	AKAP10, ALDH3A1 +249 more	Copy number loss	See cases	GPathogenic
Select item 152261	GRCh38/hg38 17p11.2(chr17:16699816-20492214)x3	AKAP10, ALDH3A1 +251 more	Copy number gain	See cases	GPathogenic
Select item 148912	GRCh38/hg38 17p11.2(chr17:16699816-20390725)x1	LOC130060441, LOC130060442 +248 more	Copy number loss	See cases	GPathogenic
Select item 58115	GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3	SNORD3B-2, SNORD3C +253 more	Copy number gain	See cases	GPathogenic
Select item 58126	GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 155350	GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3	AKAP10, ALDH3A1 +252 more	Copy number gain	See cases	GPathogenic
Select item 146755	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x1	LOC132090457, LOC132090458 +248 more	Copy number loss	See cases	GPathogenic
Select item 146754	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 147821	GRCh38/hg38 17p11.2(chr17:16734588-20316151)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 147756	GRCh38/hg38 17p11.2(chr17:16734588-20390725)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 58127	GRCh38/hg38 17p11.2(chr17:16760817-20429770)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 60437	GRCh38/hg38 17p11.2(chr17:16760818-20390725)x1	LOC130060388, LOC130060389 +247 more	Copy number loss	See cases	GPathogenic
Select item 58128	GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3	FLII, FOXO3B +250 more	Copy number gain	See cases	GPathogenic
Select item 545218	NC_000017.11:g.(?_16770855)_(20585863_?)del	AKAP10, ALDH3A1 +252 more	Deletion	Autism	GPathogenic
Select item 545217	Single allele	FAM106A, FAM106B +248 more	Duplication	Autism	GPathogenic
Select item 60455	GRCh38/hg38 17p11.2(chr17:16836827-20465067)x1	AKAP10, ALDH3A1 +246 more	Copy number loss	See cases	GPathogenic
Select item 58132	GRCh38/hg38 17p11.2(chr17:16836827-20504849)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 58131	GRCh38/hg38 17p11.2(chr17:16836827-20340442)x3	LOC130060437, LOC130060438 +243 more	Copy number gain	See cases	GPathogenic
Select item 153671	GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1	LOC130060452, LOC130060453 +244 more	Copy number loss	See cases	GPathogenic
Select item 155529	GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1	AKAP10, ALDH3A1 +243 more	Copy number loss	See cases	GPathogenic
Select item 150319	GRCh38/hg38 17p11.2(chr17:16854250-20560048)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 149203	GRCh38/hg38 17p11.2(chr17:16854250-20492214)x3	AKAP10, ALDH3A1 +245 more	Copy number gain	See cases	GPathogenic
Select item 145065	GRCh38/hg38 17p11.2(chr17:16854250-20492169)x3	AKAP10, ALDH3A1 +245 more	Copy number gain	See cases	GPathogenic
Select item 60457	GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1	LOC130060350, LOC130060351 +245 more	Copy number loss	See cases	GPathogenic
Select item 60456	GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 155143	GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1	AKAP10, ALDH3A1 +246 more	Copy number loss	See cases	GPathogenic
Select item 153822	GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3	LOC130060452, LOC130060453 +246 more	Copy number gain	See cases	GPathogenic
Select item 144213	GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3	AKAP10, ALDH3A1 +242 more	Copy number gain	See cases	GPathogenic
Select item 57035	GRCh38/hg38 17p11.2(chr17:16879232-20390725)x1	LOC130060362, LOC130060363 +242 more	Copy number loss	See cases	GPathogenic
Select item 57034	GRCh38/hg38 17p11.2(chr17:16879232-20390725)x3	AKAP10, ALDH3A1 +242 more	Copy number gain	See cases	GPathogenic
Select item 146753	GRCh38/hg38 17p11.2(chr17:16879233-20390697)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 58134	GRCh38/hg38 17p11.2(chr17:16919369-20289856)x3	AKAP10, ALDH3A1 +241 more	Copy number gain	See cases	GPathogenic
Select item 150379	GRCh38/hg38 17p11.2(chr17:16989087-20370816)x1	AKAP10, ALDH3A1 +226 more	Copy number loss	See cases	GPathogenic
Select item 152568	GRCh38/hg38 17p11.2(chr17:17018951-20148630)x1	AKAP10, ALDH3A1 +220 more	Copy number loss	See cases	GPathogenic
Select item 146614	GRCh38/hg38 17p11.2(chr17:17331511-20022528)x1	AKAP10, ALDH3A1 +187 more	Copy number loss	See cases	GPathogenic
Select item 60134	GRCh38/hg38 17p11.2(chr17:18828089-20467764)x3	AKAP10, ALDH3A1 +91 more	Copy number gain	See cases	GUncertain significance
Select item 31103	NC_000017.11:g.(?_18856298)_(20402192_?)del	AKAP10, ALDH3A1 +87 more	Deletion	Meckel syndrome, type 9	GPathogenic
Select item 148929	GRCh38/hg38 17p11.2(chr17:18859289-20316151)x1	AKAP10, ALDH3A1 +87 more	Copy number loss	See cases	GLikely pathogenic
Select item 144242	GRCh38/hg38 17p11.2(chr17:18872617-20316151)x1	AKAP10, ALDH3A1 +87 more	Copy number loss	See cases	GPathogenic
Select item 60135	GRCh38/hg38 17p11.2(chr17:19070690-21619442)x3	AKAP10, ALDH3A1 +116 more	Copy number gain	See cases	GUncertain significance
Select item 3123297	NM_002749.4(MAPK7):c.92C>T (p.Ser31Phe)	MAPK7 (S31F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250940	NM_002749.4(MAPK7):c.290A>G (p.Lys97Arg)	MAPK7 (K97R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294577	NM_002749.4(MAPK7):c.362T>C (p.Leu121Pro)	MAPK7 (L121P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357906	NM_002749.4(MAPK7):c.373G>A (p.Val125Met)	MAPK7 (V125M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368712	NM_002749.4(MAPK7):c.478C>T (p.Arg160Cys)	MAPK7 (R21C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240373	NM_002749.4(MAPK7):c.650T>C (p.Phe217Ser)	MAPK7 (F217S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123295	NM_002749.4(MAPK7):c.740C>G (p.Ser247Cys)	MAPK7 (S247C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604147	NM_002749.4(MAPK7):c.794A>G (p.Lys265Arg)	MAPK7 (K126R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340776	NM_002749.4(MAPK7):c.853G>A (p.Val285Met)	MAPK7 (V146M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123296	NM_002749.4(MAPK7):c.862G>T (p.Ala288Ser)	MAPK7 (A288S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212813	NM_002749.4(MAPK7):c.884G>A (p.Arg295Gln)	MAPK7 (R156Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 427639	NM_002749.4(MAPK7):c.886G>A (p.Ala296Thr)	MAPK7 (A296T +1 more)	Single nucleotide variant (missense variant)	Scoliosis, isolated, susceptibility to, 1	GPathogenic
Select item 2361462	NM_002749.4(MAPK7):c.977G>A (p.Arg326His)	MAPK7 (R187H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342373	NM_002749.4(MAPK7):c.986G>A (p.Arg329His)	MAPK7 (R329H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283807	NM_002749.4(MAPK7):c.1000G>A (p.Ala334Thr)	MAPK7 (A195T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262564	NM_002749.4(MAPK7):c.1072G>C (p.Asp358His)	MAPK7 (D358H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602410	NM_002749.4(MAPK7):c.1079C>T (p.Ala360Val)	MAPK7 (A360V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123283	NM_002749.4(MAPK7):c.1105C>T (p.Arg369Cys)	MAPK7 (R230C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524975	NM_002749.4(MAPK7):c.1106G>A (p.Arg369His)	MAPK7 (R230H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379467	NM_002749.4(MAPK7):c.1205A>G (p.Gln402Arg)	MAPK7 (Q263R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485090	NM_002749.4(MAPK7):c.1219C>T (p.Pro407Ser)	MAPK7 (P268S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600332	NM_002749.4(MAPK7):c.1229G>T (p.Ser410Ile)	MAPK7 (S271I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390734	NM_002749.4(MAPK7):c.1229G>A (p.Ser410Asn)	MAPK7 (S271N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407326	NM_002749.4(MAPK7):c.1261A>G (p.Ser421Gly)	MAPK7 (S282G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292889	NM_002749.4(MAPK7):c.1301C>T (p.Pro434Leu)	MAPK7 (P295L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240937	NM_002749.4(MAPK7):c.1351C>G (p.Leu451Val)	MAPK7 (L312V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735403	NM_002749.4(MAPK7):c.1377C>T (p.Val459=)	MAPK7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2283103	NM_002749.4(MAPK7):c.1441G>T (p.Ala481Ser)	MAPK7 (A342S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246244	NM_002749.4(MAPK7):c.1490C>T (p.Ala497Val)	MAPK7 (A358V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299874	NM_002749.4(MAPK7):c.1502C>T (p.Ala501Val)	MAPK7 (A362V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317981	NM_002749.4(MAPK7):c.1532A>G (p.Gln511Arg)	MAPK7 (Q372R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605169	NM_002749.4(MAPK7):c.1538G>A (p.Arg513His)	MAPK7 (R374H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123285	NM_002749.4(MAPK7):c.1604G>A (p.Arg535Gln)	MAPK7 (R535Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549359	NM_002749.4(MAPK7):c.1627C>T (p.Arg543Trp)	MAPK7 (R404W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777151	NM_002749.4(MAPK7):c.1651C>T (p.Pro551Ser)	MAPK7 (P551S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3123286	NM_002749.4(MAPK7):c.1735G>A (p.Ala579Thr)	MAPK7 (A579T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333302	NM_002749.4(MAPK7):c.1745C>G (p.Ala582Gly)	MAPK7 (A582G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 427640	NM_002749.4(MAPK7):c.1760C>T (p.Pro587Leu)	MAPK7 (P587L +1 more)	Single nucleotide variant (missense variant)	Scoliosis, isolated, susceptibility to, 1	GPathogenic
Select item 3123287	NM_002749.4(MAPK7):c.1847C>T (p.Pro616Leu)	MAPK7 (P616L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123288	NM_002749.4(MAPK7):c.1855C>A (p.Gln619Lys)	MAPK7 (Q480K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123289	NM_002749.4(MAPK7):c.1892C>T (p.Pro631Leu)	MAPK7 (P492L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 427641	NM_002749.4(MAPK7):c.1943C>T (p.Pro648Leu)	MAPK7 (P648L +1 more)	Single nucleotide variant (missense variant)	Scoliosis, isolated, susceptibility to, 1	GPathogenic
Select item 3123290	NM_002749.4(MAPK7):c.1957G>A (p.Ala653Thr)	MAPK7 (A514T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123291	NM_002749.4(MAPK7):c.1976C>T (p.Thr659Ile)	MAPK7 (T520I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283241	NM_002749.4(MAPK7):c.1982C>T (p.Thr661Ile)	MAPK7 (T661I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123292	NM_002749.4(MAPK7):c.2005C>T (p.Leu669Phe)	MAPK7 (L530F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123293	NM_002749.4(MAPK7):c.2033C>T (p.Ser678Phe)	MAPK7 (S539F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2