JAKMIP3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 more	Copy number loss	See cases	GPathogenic
Select item 57447	GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1	ABRAXAS2, ADAM12 +331 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 58822	GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	ABRAXAS2, ADAM12 +311 more	Copy number loss	See cases	GPathogenic
Select item 146789	GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1	ABRAXAS2, ADAM12 +297 more	Copy number loss	See cases	GPathogenic
Select item 148580	GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1	LOC130005026, LOC130005027 +257 more	Copy number loss	See cases	GPathogenic
Select item 150776	GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1	LOC126861090, LOC126861091 +250 more	Copy number loss	See cases	GPathogenic
Select item 152830	GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3	ADAM12, ADAM8 +241 more	Copy number gain	See cases	GPathogenic
Select item 144259	GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1	ADAM12, ADAM8 +234 more	Copy number loss	See cases	GPathogenic
Select item 3061841	GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1	CLRN3, DOCK1 +201 more	Copy number loss	Hypotonia, ataxia, and delayed development syndrome +1 more	GPathogenic
Select item 58823	GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1	ADAM12, ADAM8 +207 more	Copy number loss	See cases	GPathogenic
Select item 144558	GRCh38/hg38 10q26.2-26.3(chr10:126730896-133620609)x1	LOC130005011, LOC130005012 +199 more	Copy number loss	See cases	GPathogenic
Select item 155548	GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1	ADAM8, ADGRA1 +199 more	Copy number loss	See cases	GPathogenic
Select item 155174	GRCh38/hg38 10q26.2-26.3(chr10:127435985-133622588)x1	ADAM8, ADGRA1 +192 more	Copy number loss	See cases	GPathogenic
Select item 146431	GRCh38/hg38 10q26.2-26.3(chr10:127640489-132776585)x1	AS-PTPRE, BNIP3 +121 more	Copy number loss	See cases	GPathogenic
Select item 152433	GRCh38/hg38 10q26.2-26.3(chr10:127664168-133622588)x3	ADAM8, ADGRA1 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 149102	GRCh38/hg38 10q26.2-26.3(chr10:127849717-133622588)x1	ADAM8, ADGRA1 +189 more	Copy number loss	See cases	GPathogenic
Select item 149101	GRCh38/hg38 10q26.2-26.3(chr10:128549913-133622588)x1	LOC130004973, LOC130004974 +170 more	Copy number loss	See cases	GPathogenic
Select item 147736	GRCh38/hg38 10q26.3(chr10:128872419-133564028)x3	ADAM8, ADGRA1 +168 more	Copy number gain	See cases	GPathogenic
Select item 148897	GRCh38/hg38 10q26.3(chr10:129427520-133622588)x1	ADAM8, ADGRA1 +165 more	Copy number loss	See cases	GPathogenic
Select item 146234	GRCh38/hg38 10q26.3(chr10:129549258-133620674)x1	LOC130004974, LOC130004975 +163 more	Copy number loss	See cases	GPathogenic
Select item 58825	GRCh38/hg38 10q26.3(chr10:129673966-133613938)x1	ADAM8, ADGRA1 +158 more	Copy number loss	See cases	GPathogenic
Select item 155487	GRCh38/hg38 10q26.3(chr10:130625650-133613639)x1	ADAM8, ADGRA1 +135 more	Copy number loss	See cases	GUncertain significance
Select item 155695	GRCh38/hg38 10q26.3(chr10:131424682-133613639)x1	ADAM8, ADGRA1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 57314	GRCh38/hg38 10q26.3(chr10:131457361-133620674)x1	ADAM8, ADGRA1 +127 more	Copy number loss	See cases	GPathogenic
Select item 146249	GRCh38/hg38 10q26.3(chr10:131761691-132178534)x3	BNIP3, JAKMIP3 +16 more	Copy number gain	See cases	GUncertain significance
Select item 58853	GRCh38/hg38 10q26.3(chr10:131914873-133613938)x1	ADAM8, ADGRA1 +115 more	Copy number loss	See cases	GPathogenic
Select item 2276370	NM_001323087.2(JAKMIP3):c.59C>T (p.Ala20Val)	JAKMIP3 (A20V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570037	NM_001323087.2(JAKMIP3):c.68C>T (p.Ala23Val)	JAKMIP3 (A23V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112182	NM_001323087.2(JAKMIP3):c.181C>T (p.Arg61Cys)	JAKMIP3 (R61C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112183	NM_001323087.2(JAKMIP3):c.196C>T (p.His66Tyr)	JAKMIP3 (H66Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553904	NM_001323087.2(JAKMIP3):c.252G>A (p.Met84Ile)	JAKMIP3 (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369038	NM_001323087.2(JAKMIP3):c.278C>T (p.Thr93Met)	JAKMIP3 (T93M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277264	NM_001323087.2(JAKMIP3):c.329A>C (p.Asp110Ala)	JAKMIP3 (D110A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469831	NM_001323087.2(JAKMIP3):c.334G>A (p.Glu112Lys)	JAKMIP3 (E29K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112189	NM_001323087.2(JAKMIP3):c.344G>A (p.Arg115Gln)	JAKMIP3 (R32Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536152	NM_001323087.2(JAKMIP3):c.379G>A (p.Gly127Ser)	JAKMIP3 (G127S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312376	NM_001323087.2(JAKMIP3):c.487G>A (p.Gly163Ser)	JAKMIP3 (G80S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521164	NM_001323087.2(JAKMIP3):c.502G>A (p.Val168Met)	JAKMIP3 (V85M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358153	NM_001323087.2(JAKMIP3):c.518C>T (p.Thr173Met)	JAKMIP3 (T173M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349663	NM_001323087.2(JAKMIP3):c.528C>G (p.Ile176Met)	JAKMIP3 (I93M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597466	NM_001323087.2(JAKMIP3):c.596G>A (p.Arg199His)	JAKMIP3 (R116H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590483	NM_001323087.2(JAKMIP3):c.626G>A (p.Arg209His)	JAKMIP3 (R126H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112190	NM_001323087.2(JAKMIP3):c.688G>A (p.Gly230Arg)	JAKMIP3 (G147R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112191	NM_001323087.2(JAKMIP3):c.710A>G (p.Gln237Arg)	JAKMIP3 (Q154R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112192	NM_001323087.2(JAKMIP3):c.793C>T (p.Arg265Trp)	JAKMIP3 (R182W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615031	NM_001323087.2(JAKMIP3):c.875C>T (p.Ala292Val)	JAKMIP3 (A220V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112193	NM_001323087.2(JAKMIP3):c.890T>C (p.Leu297Pro)	JAKMIP3 (L140P +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259911	NM_001323087.2(JAKMIP3):c.940G>A (p.Ala314Thr)	JAKMIP3 (A240T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266005	NM_001323087.2(JAKMIP3):c.950C>T (p.Ser317Leu)	JAKMIP3 (S160L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277513	NM_001323087.2(JAKMIP3):c.977G>A (p.Arg326His)	JAKMIP3 (R169H +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112176	NM_001323087.2(JAKMIP3):c.1070G>A (p.Arg357Gln)	JAKMIP3 (R274Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354274	NM_001323087.2(JAKMIP3):c.1139G>A (p.Arg380Gln)	JAKMIP3 (R223Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112177	NM_001323087.2(JAKMIP3):c.1261G>A (p.Ala421Thr)	JAKMIP3 (A346T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358436	NM_001323087.2(JAKMIP3):c.1309C>T (p.Arg437Trp)	JAKMIP3 (R280W +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372036	NM_001323087.2(JAKMIP3):c.1340C>G (p.Pro447Arg)	JAKMIP3 (P373R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511596	NM_001323087.2(JAKMIP3):c.1360A>G (p.Thr454Ala)	JAKMIP3 (T371A +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349918	NM_001323087.2(JAKMIP3):c.1399G>A (p.Asp467Asn)	JAKMIP3 (D310N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549163	NM_001323087.2(JAKMIP3):c.1451C>A (p.Thr484Asn)	JAKMIP3 (T409N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331264	NM_001323087.2(JAKMIP3):c.1459G>A (p.Asp487Asn)	JAKMIP3 (D412N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278356	NM_001323087.2(JAKMIP3):c.1493C>T (p.Thr498Met)	JAKMIP3 (T423M +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408153	NM_001323087.2(JAKMIP3):c.1574G>A (p.Gly525Glu)	JAKMIP3 (G451E +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376801	NM_001323087.2(JAKMIP3):c.1577C>T (p.Thr526Met)	JAKMIP3 (T369M +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206405	NM_001323087.2(JAKMIP3):c.1585G>A (p.Ala529Thr)	JAKMIP3 (A372T +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112178	NM_001323087.2(JAKMIP3):c.1628T>C (p.Val543Ala)	JAKMIP3 (V460A +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588106	NM_001323087.2(JAKMIP3):c.1643C>T (p.Ala548Val)	JAKMIP3 (A391V +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611754	NM_001323087.2(JAKMIP3):c.1723C>T (p.Arg575Trp)	JAKMIP3 (R492W +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112179	NM_001323087.2(JAKMIP3):c.1724G>A (p.Arg575Gln)	JAKMIP3 (R573Q +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112180	NM_001323087.2(JAKMIP3):c.1775C>A (p.Ala592Asp)	JAKMIP3 (A509D +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112181	NM_001323087.2(JAKMIP3):c.1783A>G (p.Arg595Gly)	JAKMIP3 (R494G +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459574	NM_001323087.2(JAKMIP3):c.1946C>T (p.Thr649Met)	JAKMIP3 (T574M +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288743	NM_001323087.2(JAKMIP3):c.1961C>A (p.Ala654Glu)	JAKMIP3 (A497E +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592402	NM_001323087.2(JAKMIP3):c.2018A>G (p.Asn673Ser)	JAKMIP3 (N598S +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112184	NM_001323087.2(JAKMIP3):c.2102C>T (p.Ala701Val)	JAKMIP3 (A600V +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209341	NM_001323087.2(JAKMIP3):c.2105C>T (p.Ala702Val)	JAKMIP3 (A543V +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112185	NM_001323087.2(JAKMIP3):c.2114G>A (p.Arg705Gln)	JAKMIP3 (R629Q +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112186	NM_001323087.2(JAKMIP3):c.2138A>G (p.Glu713Gly)	JAKMIP3 (E554G +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275079	NM_001323087.2(JAKMIP3):c.2255C>G (p.Ala752Gly)	JAKMIP3 (A651G +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543101	NM_001323087.2(JAKMIP3):c.2272G>A (p.Gly758Arg)	JAKMIP3 (G670R +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480185	NM_001323087.2(JAKMIP3):c.2315A>G (p.Lys772Arg)	JAKMIP3 (K700R +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112187	NM_001323087.2(JAKMIP3):c.2329G>A (p.Val777Met)	JAKMIP3 (V702M +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550638	NM_001323087.2(JAKMIP3):c.2345G>A (p.Arg782His)	JAKMIP3 (R623H +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112188	NM_001323087.2(JAKMIP3):c.2395C>T (p.Arg799Cys)	JAKMIP3 (R725C +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407073	NM_001323087.2(JAKMIP3):c.2398A>G (p.Met800Val)	JAKMIP3 (M784V +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238120	NM_001323087.2(JAKMIP3):c.2428A>G (p.Ile810Val)	JAKMIP3 (I651V +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146073	GRCh38/hg38 10q26.3(chr10:132178475-133620674)x1	ADAM8, ADGRA1 +105 more	Copy number loss	See cases	GPathogenic
Select item 3148924	GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 3063175	GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1	ABRAXAS2, ADAM12 +55 more	Copy number loss	not specified	GPathogenic

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