ClinVar for Gene (Select 5598) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3123294	NM_002749.4(MAPK7):c.2281G>A (p.Asp761Asn)	MAPK7 (D761N +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
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 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 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 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 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 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 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 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 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 3063517	GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2685598	GRCh37/hg19 17p11.2(chr17:16651293-20450566)x1	AKAP10, ALDH3A1 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685597	GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not provided	GPathogenic
Select item 2684839	GRCh37/hg19 17p11.2-11.1(chr17:18614422-22227823)x3	AKAP10, ALDH3A1 +29 more	Copy number gain	not provided	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 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 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 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 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 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 2506529	GRCh37/hg19 17p11.2(chr17:16664739-20370783)	MPRIP, NT5M +49 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 2498730	GRCh37/hg19 17p11.2(chr17:17116969-20217378)x1	AKAP10, ALDH3A1 +44 more	Copy number loss	not provided	GPathogenic
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 2459413	NM_002749.4(MAPK7):c.2099C>T (p.Pro700Leu)	MAPK7 (P700L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425820	NC_000017.10:g.(?_16842861)_(19578885_?)dup	ALDH3A2, ALKBH5 +42 more	Duplication	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 2422990	NC_000017.10:g.(?_19246632)_(19578885_?)dup	ALDH3A2, B9D1 +4 more	Duplication	not provided	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 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 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 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 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 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 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 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 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 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 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 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 2293348	NM_002749.4(MAPK7):c.2189T>A (p.Phe730Tyr)	MAPK7 (F730Y +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 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 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 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 2267579	NM_002749.4(MAPK7):c.2390G>A (p.Arg797His)	MAPK7 (R797H +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 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 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 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 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 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 1808657	GRCh37/hg19 17p11.2(chr17:17103571-19331028)x3	ALKBH5, ATPAF2 +38 more	Copy number gain	not provided	GPathogenic
Select item 1710929	GRCh37/hg19 17p11.2(chr17:16736709-20339460)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 1703602	Single allele	ADORA2B, AKAP10 +78 more	Complex	PMP22-RAI1 contiguous gene duplication syndrome	GPathogenic
Select item 1703566	GRCh37/hg19 17p11.2(chr17:17151140-20187953)	AKAP10, ALDH3A1 +43 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 1703565	GRCh37/hg19 17p11.2(chr17:16651292-20286898)	AKAP10, ALDH3A1 +48 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 1675695	GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1	GID4, GRAP +48 more	Copy number loss	not provided	GPathogenic
Select item 1330162	GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3	AKAP10, ALDH3A1 +48 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 1047866	GRCh37/hg19 17p11.2(chr17:16601603-20063369)	AKAP10, ALDH3A1 +48 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 1047863	GRCh37/hg19 17p11.2(chr17:17145361-20137943)	AKAP10, ALDH3A1 +43 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 980119	GRCh37/hg19 17p11.2(chr17:18746987-20231379)x1	ULK2, SLC47A2 +16 more	Copy number loss	not provided	GUncertain significance
Select item 980115	GRCh37/hg19 17p11.2(chr17:16763370-20395611)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	not provided	GPathogenic
Select item 980114	GRCh37/hg19 17p11.2(chr17:16761814-20330062)x3	SMCR8, SNORD3A +47 more	Copy number gain	not provided	GPathogenic
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 735403	NM_002749.4(MAPK7):c.1377C>T (p.Val459=)	MAPK7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 688255	GRCh37/hg19 17p11.2(chr17:19144143-20231379)x3	AKAP10, ALDH3A1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 625730	GRCh37/hg19 17p11.2(chr17:16842991-20217316)	AKAP10, ALDH3A1 +47 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 564418	GRCh37/hg19 17p11.2(chr17:18743223-20246715)x3	AKAP10, B9D1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 564413	GRCh37/hg19 17p11.2(chr17:17021607-20015978)x1	AKAP10, ALDH3A1 +46 more	Copy number loss	not provided	GPathogenic
Select item 564412	GRCh37/hg19 17p11.2(chr17:16999980-20298979)x1	AKAP10, ALDH3A1 +46 more	Copy number loss	not provided	GPathogenic
Select item 564411	GRCh37/hg19 17p11.2(chr17:16761814-20292897)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	not provided	GPathogenic
Select item 564409	GRCh37/hg19 17p11.2(chr17:16741411-20430791)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	not provided	GPathogenic
Select item 564408	GRCh37/hg19 17p11.2(chr17:16727264-20310241)x1	GID4, GRAP +47 more	Copy number loss	not provided	GPathogenic
Select item 545218	NC_000017.11:g.(?_16770855)_(20585863_?)del	AKAP10, ALDH3A1 +252 more	Deletion	Autism	GPathogenic
Select item 545217	Single allele	DRC3, LOC130060351 +248 more	Duplication	Autism	GPathogenic
Select item 523257	GRCh37/hg19 17p11.2(chr17:16842163-20217777)	COPS3, DRC3 +47 more	Copy number gain	Delayed gross motor development +3 more	GPathogenic
Select item 523256	GRCh37/hg19 17p11.2(chr17:16782546-20294038)	TRIM16L, MED9 +47 more	Copy number loss	Pes valgus +9 more	GPathogenic
Select item 496743	arr[hg19]17p11.2(16,757,111-20,219,651)x3	MYO15A, NT5M +47 more	Duplication	Potocki-Lupski syndrome	GPathogenic
Select item 443760	GRCh37/hg19 17p11.2(chr17:16761814-20339795)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GPathogenic
Select item 443148	GRCh37/hg19 17p11.2(chr17:16745600-20396173)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 442933	GRCh37/hg19 17p11.2(chr17:17200426-21900910)x1	B9D1, AKAP10 +51 more	Copy number loss	See cases	GPathogenic
Select item 442905	GRCh37/hg19 17p11.2(chr17:16651292-20437532)x3	AKAP10, ALDH3A1 +49 more	Copy number gain	See cases	GPathogenic
Select item 442859	GRCh37/hg19 17p11.2(chr17:19144143-20231379)x1	AKAP10, ALDH3A1 +10 more	Copy number loss	See cases	GLikely pathogenic
Select item 442858	GRCh37/hg19 17p11.2(chr17:19144143-20231379)x3	AKAP10, ALDH3A1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 442795	GRCh37/hg19 17p11.2(chr17:16591260-20473937)x3	AKAP10, ALDH3A1 +49 more	Copy number gain	See cases	GPathogenic
Select item 442542	GRCh37/hg19 17p11.2(chr17:16741411-20410218)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 442368	GRCh37/hg19 17p11.2(chr17:16772264-20297091)x1	AKAP10, ALDH3A1 +47 more	Copy number loss	See cases	GPathogenic
Select item 442167	GRCh37/hg19 17p11.2(chr17:16738161-20338182)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GPathogenic
Select item 441899	GRCh37/hg19 17p11.2(chr17:16741411-20489023)x1	AKAP10, ALDH3A1 +49 more	Copy number loss	See cases	GPathogenic
Select item 441875	GRCh37/hg19 17p11.2(chr17:16727264-20395889)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 441841	GRCh37/hg19 17p11.2(chr17:16727264-20413564)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
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 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 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

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