"Ambry Genetics"[submitter] AND "MAP7"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2511508	NM_003980.6(MAP7):c.2125G>A (p.Val709Ile)	MAP7 (V651I +18 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552489	NM_003980.6(MAP7):c.1994A>C (p.Gln665Pro)	MAP7 (Q482P +18 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623605	NM_003980.6(MAP7):c.1886C>T (p.Ala629Val)	MAP7 (A483V +18 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331178	NM_003980.6(MAP7):c.1793A>G (p.Glu598Gly)	MAP7 (E370G +18 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494034	NM_003980.6(MAP7):c.1690G>T (p.Ala564Ser)	MAP7 (A336S +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232130	NM_003980.6(MAP7):c.1667G>A (p.Arg556His)	MAP7 (R328H +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606944	NM_003980.6(MAP7):c.1643G>C (p.Arg548Pro)	MAP7 (R533P +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388028	NM_003980.6(MAP7):c.1618C>G (p.Arg540Gly)	MAP7 (R357G +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326138	NM_003980.6(MAP7):c.1595G>T (p.Arg532Leu)	MAP7 (R304L +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246339	NM_003980.6(MAP7):c.1594C>T (p.Arg532Cys)	MAP7 (R304C +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293347	NM_003980.6(MAP7):c.1568G>A (p.Arg523Lys)	MAP7 (R377K +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2310752	NM_003980.6(MAP7):c.1340C>T (p.Pro447Leu)	MAP7 (P418L +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213412	NM_003980.6(MAP7):c.1165C>T (p.Pro389Ser)	MAP7 (P161S +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461049	NM_003980.6(MAP7):c.1153C>A (p.Pro385Thr)	MAP7 (P291T +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281983	NM_003980.6(MAP7):c.1034C>T (p.Pro345Leu)	MAP7 (P162L +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232272	NM_003980.6(MAP7):c.977G>A (p.Arg326His)	MAP7 (R143H +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255488	NM_003980.6(MAP7):c.952A>G (p.Asn318Asp)	MAP7 (N303D +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281043	NM_003980.6(MAP7):c.923C>A (p.Ser308Tyr)	MAP7 (S162Y +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216935	NM_003980.6(MAP7):c.752-6G>A	MAP7 (R257H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456868	NM_003980.6(MAP7):c.704C>T (p.Ser235Leu)	MAP7 (S126L +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320750	NM_003980.6(MAP7):c.692C>T (p.Thr231Met)	MAP7 (T216M +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394819	NM_003980.6(MAP7):c.644G>A (p.Arg215His)	MAP7 (R222H +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539266	NM_003980.6(MAP7):c.580G>A (p.Val194Ile)	MAP7 (V201I +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483445	NM_003980.6(MAP7):c.488G>A (p.Gly163Glu)	MAP7 (G163E +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221885	NM_003980.6(MAP7):c.476G>A (p.Arg159His)	MAP7 (R159H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392707	NM_003980.6(MAP7):c.469C>G (p.His157Asp)	MAP7 (H11D +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468499	NM_003980.6(MAP7):c.439A>G (p.Met147Val)	MAP7 (M110V +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2372076	NM_003980.6(MAP7):c.431G>A (p.Arg144Gln)	MAP7 (R144Q +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2362867	NM_003980.6(MAP7):c.359G>C (p.Arg120Thr)	MAP7 (R120T +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2286027	NM_003980.6(MAP7):c.356G>A (p.Arg119Gln)	MAP7 (R82Q +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2244385	NM_003980.6(MAP7):c.280C>G (p.Arg94Gly)	MAP7 (R116G +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2401132	NM_003980.6(MAP7):c.230G>A (p.Arg77Gln)	MAP7 (R99Q +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2204323	NM_003980.6(MAP7):c.211C>T (p.Arg71Trp)	MAP7 (R93W +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2521345	NM_003980.6(MAP7):c.203G>A (p.Arg68Gln)	MAP7 (R90Q +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2377113	NM_003980.6(MAP7):c.73G>A (p.Asp25Asn)	MAP7 (D10N +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2336048	NM_003980.6(MAP7):c.67+24434G>T	MAP7 (R19S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546495	NM_003980.6(MAP7):c.67+24406A>G	MAP7 (H10R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368173	NM_003980.6(MAP7):c.50C>T (p.Ala17Val)	MAP7 (A17V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 38