JAKMIP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 154884	GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1	ADD1, ADRA2C +426 more	Copy number loss	See cases	GPathogenic
Select item 149173	GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	NELFA, NICOL1 +504 more	Copy number loss	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 146749	GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	ABLIM2, ACOX3 +504 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 57239	GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3	ABLIM2, ADD1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 155480	GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1	LOC101928279, LOC101928306 +346 more	Copy number loss	See cases	GPathogenic
Select item 155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	ABLIM2, ACOX3 +479 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	ABLIM2, ACOX3 +569 more	Copy number loss	See cases	GPathogenic
Select item 147922	GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	ABLIM2, ACOX3 +536 more	Copy number loss	See cases	GPathogenic
Select item 147376	GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1	ADD1, ADRA2C +363 more	Copy number loss	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 57901	GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1	NSD2, NSG1 +438 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 57936	GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1	ADD1, ADRA2C +414 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 146113	GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	ABLIM2, ACOX3 +500 more	Copy number loss	See cases	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 1679802	Single allele	ADRA2C, BLOC1S4 +181 more	Deletion	not provided	GLikely pathogenic
Select item 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	ABLIM2, ACOX3 +365 more	Copy number loss	See cases	GPathogenic
Select item 154067	GRCh38/hg38 4p16.2-16.1(chr4:5802938-6159712)x3	C4orf50, CRMP1 +11 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 150692	GRCh38/hg38 4p16.2-16.1(chr4:5859050-6557271)x1	C4orf50, CRMP1 +31 more	Copy number loss	See cases	GUncertain significance
Select item 146368	GRCh38/hg38 4p16.2-16.1(chr4:5875413-6557271)x1	C4orf50, CRMP1 +31 more	Copy number loss	See cases	GUncertain significance
Select item 737928	NM_001099433.2(JAKMIP1):c.2436G>A (p.Leu812=)	JAKMIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714239	NM_001099433.2(JAKMIP1):c.2226G>A (p.Pro742=)	JAKMIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 742800	NM_001099433.2(JAKMIP1):c.2211G>A (p.Ala737=)	JAKMIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714279	NM_001099433.2(JAKMIP1):c.2058C>T (p.Ala686=)	JAKMIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 789994	NM_001099433.2(JAKMIP1):c.1758C>T (p.Asp586=)	JAKMIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 254206	NM_001099433.2(JAKMIP1):c.1756G>C (p.Asp586His)	JAKMIP1 (D421H +1 more)	Single nucleotide variant (missense variant)	Smith-Magenis Syndrome-like	GPathogenic
Select item 2287972	NM_001099433.2(JAKMIP1):c.1678A>G (p.Ile560Val)	JAKMIP1 (I560V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294728	NM_001099433.2(JAKMIP1):c.1564C>T (p.Arg522Trp)	JAKMIP1 (R522W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 754524	NM_001099433.2(JAKMIP1):c.1542C>T (p.Asp514=)	JAKMIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749333	NM_001099433.2(JAKMIP1):c.1476C>G (p.Thr492=)	JAKMIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1331573	NM_001099433.2(JAKMIP1):c.1471C>A (p.Leu491Met)	JAKMIP1 (L326M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 738927	NM_001099433.2(JAKMIP1):c.1464C>T (p.Phe488=)	JAKMIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 431109	NM_001099433.2(JAKMIP1):c.1432-2A>G	JAKMIP1	Single nucleotide variant (splice acceptor variant)	Intellectual disability	GUncertain significance
Select item 1050636	NM_001099433.2(JAKMIP1):c.1391C>T (p.Thr464Ile)	JAKMIP1 (T299I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792172	NM_001099433.2(JAKMIP1):c.1320A>G (p.Thr440=)	JAKMIP1, LOC128125818	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729135	NM_001099433.2(JAKMIP1):c.1303-9G>A	JAKMIP1, LOC128125818	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2320389	NM_001099433.2(JAKMIP1):c.1295C>T (p.Pro432Leu)	JAKMIP1 (P267L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112158	NM_001099433.2(JAKMIP1):c.1262G>A (p.Arg421His)	JAKMIP1 (R421H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287144	NM_001099433.2(JAKMIP1):c.1253G>A (p.Arg418Gln)	JAKMIP1 (R253Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595821	NM_001099433.2(JAKMIP1):c.1231G>A (p.Asp411Asn)	JAKMIP1 (D246N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263083	NM_001099433.2(JAKMIP1):c.1117G>A (p.Ala373Thr)	JAKMIP1 (A373T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783416	NM_001099433.2(JAKMIP1):c.1092C>T (p.Asn364=)	JAKMIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710924	NM_001099433.2(JAKMIP1):c.1038G>C (p.Leu346=)	JAKMIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2479972	NM_001099433.2(JAKMIP1):c.1013G>A (p.Arg338Gln)	JAKMIP1 (R173Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112165	NM_001099433.2(JAKMIP1):c.985C>G (p.Leu329Val)	JAKMIP1 (L164V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287143	NM_001099433.2(JAKMIP1):c.892A>C (p.Asn298His)	JAKMIP1 (N133H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112164	NM_001099433.2(JAKMIP1):c.854G>A (p.Arg285Gln)	JAKMIP1 (R285Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608958	NM_001099433.2(JAKMIP1):c.842A>G (p.His281Arg)	JAKMIP1 (H116R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2853229	NM_001099433.2(JAKMIP1):c.835-4_835-3dup	JAKMIP1	Duplication (intron variant)	not provided	GBenign
Select item 2706658	NM_001099433.2(JAKMIP1):c.835-3dup	JAKMIP1	Duplication (intron variant)	not provided	GBenign
Select item 777378	NM_001099433.2(JAKMIP1):c.835-20_835-3dup	JAKMIP1	Duplication (intron variant)	not provided	GLikely benign
Select item 758854	NM_001099433.2(JAKMIP1):c.807G>A (p.Gly269=)	JAKMIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3112163	NM_001099433.2(JAKMIP1):c.799G>A (p.Gly267Arg)	JAKMIP1 (G102R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358119	NM_001099433.2(JAKMIP1):c.791T>A (p.Leu264His)	JAKMIP1 (L264H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1283526	NM_001099433.2(JAKMIP1):c.625-15C>T	JAKMIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2568920	NM_001099433.2(JAKMIP1):c.577G>C (p.Glu193Gln)	JAKMIP1 (E193Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216520	NM_001099433.2(JAKMIP1):c.553G>T (p.Ala185Ser)	JAKMIP1 (A185S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534186	NM_001099433.2(JAKMIP1):c.546C>G (p.Asp182Glu)	JAKMIP1 (D182E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287147	NM_001099433.2(JAKMIP1):c.517A>C (p.Met173Leu)	JAKMIP1 (M173L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112161	NM_001099433.2(JAKMIP1):c.514T>A (p.Cys172Ser)	JAKMIP1 (C172S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534185	NM_001099433.2(JAKMIP1):c.478G>T (p.Ala160Ser)	JAKMIP1 (A160S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569350	NM_001099433.2(JAKMIP1):c.414G>C (p.Glu138Asp)	JAKMIP1 (E138D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786510	NM_001099433.2(JAKMIP1):c.408G>A (p.Ala136=)	JAKMIP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2569349	NM_001099433.2(JAKMIP1):c.400A>G (p.Thr134Ala)	JAKMIP1 (T134A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2543923	NM_001099433.2(JAKMIP1):c.391G>A (p.Ala131Thr)	JAKMIP1 (A131T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287145	NM_001099433.2(JAKMIP1):c.287A>G (p.Glu96Gly)	JAKMIP1 (E96G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287146	NM_001099433.2(JAKMIP1):c.180G>T (p.Gln60His)	JAKMIP1 (Q60H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112160	NM_001099433.2(JAKMIP1):c.161C>T (p.Ala54Val)	JAKMIP1 (A54V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529748	NM_001099433.2(JAKMIP1):c.67A>C (p.Asn23His)	JAKMIP1 (N23H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347957	NM_001099433.2(JAKMIP1):c.53C>T (p.Ala18Val)	JAKMIP1 (A18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454476	NM_001099433.2(JAKMIP1):c.5C>T (p.Ser2Leu)	JAKMIP1 (S2L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MSANTD1, MSX1 +117 more	Copy number loss	not provided	GPathogenic
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	USP17L24, USP17L25 +132 more	Copy number loss	not provided	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2424447	NC_000004.11:g.(?_4861627)_(6304195_?)del	C4orf50, CRMP1 +8 more	Deletion	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GPathogenic

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