MAP7[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 1684644	Single allele	ABRACL, AHI1 +260 more	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 58446	GRCh38/hg38 6q23.3(chr6:135249940-136439720)x1	AHI1, AHI1-DT +31 more	Copy number loss	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC132089359, LOC132089360 +614 more	Copy number gain	See cases	GPathogenic
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 2656930	NM_003980.6(MAP7):c.1843G>A (p.Ala615Thr)	MAP7 (A362T +18 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 1339507	NM_003980.6(MAP7):c.770T>A (p.Ile257Asn)	MAP7 (I111N +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
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 2656931	NM_003980.6(MAP7):c.318G>A (p.Arg106=)	MAP7	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 1180549	GRCh37/hg19 6q23.2-24.1(chr6:133810210-140046615)x1	ABRACL, AHI1 +32 more	Copy number loss	not provided	GPathogenic
Select item 972948	GRCh37/hg19 6q23.3-24.1(chr6:135936688-140660269)x1	ABRACL, ARFGEF3 +23 more	Copy number loss	not provided	Gnot provided
Select item 830657	NC_000006.11:g.(?_136482728)_(137540520_?)del	MTFR2, PDE7B +8 more	Deletion	Immunodeficiency 27A	GPathogenic
Select item 814871	GRCh37/hg19 6q23.2-24.1(chr6:133817341-140038401)x1	SLC35D3, IFNGR1 +32 more	Copy number loss	not provided	GPathogenic
Select item 625705	GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)	ABRACL, ADAT2 +49 more	Copy number loss	not provided	GPathogenic
Select item 563236	GRCh37/hg19 6q23.2-23.3(chr6:132002460-137160850)x1	ALDH8A1, PDE7B +31 more	Copy number loss	not provided	GPathogenic
Select item 563235	GRCh37/hg19 6q23.2-23.3(chr6:131388023-137469640)x1	ALDH8A1, VNN2 +37 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 441897	GRCh37/hg19 6q23.2-24.2(chr6:133077239-143761582)x1	ABRACL, ADAT2 +41 more	Copy number loss	See cases	GPathogenic

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Items: 59