MAPK7[gene] and "single gene"[properties] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293243	NM_002749.4(MAPK7):c.34G>A (p.Asp12Asn)	MAPK7 (D12N)	Single nucleotide variant (missense variant +1 more)	not specified	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 3293240	NM_002749.4(MAPK7):c.220C>T (p.Arg74Cys)	MAPK7 (R74C)	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 3293239	NM_002749.4(MAPK7):c.1613G>A (p.Arg538Gln)	MAPK7 (R538Q +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 3293242	NM_002749.4(MAPK7):c.1862C>T (p.Ala621Val)	MAPK7 (A482V +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 3293241	NM_002749.4(MAPK7):c.1907C>G (p.Pro636Arg)	MAPK7 (P497R +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 3293238	NM_002749.4(MAPK7):c.1987C>G (p.Leu663Val)	MAPK7 (L524V +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
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 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 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 2267579	NM_002749.4(MAPK7):c.2390G>A (p.Arg797His)	MAPK7 (R797H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 57