2365[HGNC] - 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 153619	GRCh38/hg38 4p16.3-16.2(chr4:1964539-5912172)x1	ADD1, ADRA2C +216 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 3077544	NM_001014809.3(CRMP1):c.1982A>G (p.Asp661Gly)	CRMP1, EVC (D661G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318982	NM_001014809.3(CRMP1):c.1978A>C (p.Ile660Leu)	CRMP1, EVC (I660L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077543	NM_001014809.3(CRMP1):c.1972G>T (p.Ala658Ser)	CRMP1, EVC (A538S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473252	NM_001014809.3(CRMP1):c.1933A>G (p.Ile645Val)	CRMP1, EVC (I645V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551643	NM_001014809.3(CRMP1):c.1857G>T (p.Glu619Asp)	CRMP1, EVC (E503D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712545	NM_001014809.3(CRMP1):c.1821G>C (p.Gly607=)	CRMP1, EVC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2216034	NM_001014809.3(CRMP1):c.1786G>A (p.Val596Ile)	CRMP1, EVC (V596I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269563	NM_001014809.3(CRMP1):c.1781A>G (p.Gln594Arg)	CRMP1, EVC (Q480R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077542	NM_001014809.3(CRMP1):c.1773C>A (p.His591Gln)	CRMP1, EVC (H471Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077541	NM_001014809.3(CRMP1):c.1772A>T (p.His591Leu)	CRMP1, EVC (H591L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338039	NM_001014809.3(CRMP1):c.1755del (p.Lys586fs)	CRMP1, EVC (K466fs +3 more)	Deletion (frameshift variant)	See cases	GLikely pathogenic
Select item 2399920	NM_001014809.3(CRMP1):c.1741C>T (p.Arg581Cys)	CRMP1, EVC (R461C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269561	NM_001014809.3(CRMP1):c.1735A>G (p.Met579Val)	CRMP1, EVC (M579V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750183	NM_001014809.3(CRMP1):c.1584C>T (p.Pro528=)	CRMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786032	NM_001014809.3(CRMP1):c.1572C>A (p.Val524=)	CRMP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3077540	NM_001014809.3(CRMP1):c.1409A>T (p.Asn470Ile)	CRMP1 (N356I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318465	NM_001014809.3(CRMP1):c.1400A>C (p.Glu467Ala)	CRMP1 (E353A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732507	NM_001014809.3(CRMP1):c.1398C>G (p.Pro466=)	CRMP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3077539	NM_001014809.3(CRMP1):c.1382A>C (p.Asn461Thr)	CRMP1 (N341T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654613	NM_001014809.3(CRMP1):c.1368G>A (p.Ala456=)	CRMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3269564	NM_001014809.3(CRMP1):c.1336G>A (p.Gly446Ser)	CRMP1 (G326S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403191	NM_001014809.3(CRMP1):c.1177A>C (p.Ile393Leu)	CRMP1 (I277L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077538	NM_001014809.3(CRMP1):c.1150A>G (p.Lys384Glu)	CRMP1 (K270E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524714	NM_001014809.3(CRMP1):c.1126G>A (p.Asp376Asn)	CRMP1 (D256N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288626	NM_001014809.3(CRMP1):c.1118G>C (p.Ser373Thr)	CRMP1 (S373T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534891	NM_001014809.3(CRMP1):c.1099A>G (p.Thr367Ala)	CRMP1 (T367A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533330	NM_001014809.3(CRMP1):c.1079T>C (p.Ile360Thr)	CRMP1 (I244T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788522	NM_001014809.3(CRMP1):c.1071G>A (p.Ala357=)	CRMP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 796324	NM_001014809.3(CRMP1):c.1065C>G (p.Thr355=)	CRMP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2394429	NM_001014809.3(CRMP1):c.987G>A (p.Met329Ile)	CRMP1 (M213I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711907	NM_001014809.3(CRMP1):c.964-8T>C	CRMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2233521	NM_001014809.3(CRMP1):c.922G>A (p.Val308Met)	CRMP1 (V308M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374359	NM_001014809.3(CRMP1):c.901T>C (p.Phe301Leu)	CRMP1 (F301L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269562	NM_001014809.3(CRMP1):c.887A>G (p.Tyr296Cys)	CRMP1 (Y180C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786033	NM_001014809.3(CRMP1):c.820+8A>G	CRMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780906	NM_001014809.3(CRMP1):c.781G>C (p.Gly261Arg)	CRMP1 (G141R +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2203839	NM_001014809.3(CRMP1):c.778G>A (p.Asp260Asn)	CRMP1 (D140N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077547	NM_001014809.3(CRMP1):c.703G>A (p.Glu235Lys)	CRMP1 (E115K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744151	NM_001014809.3(CRMP1):c.699T>G (p.Ser233=)	CRMP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2605525	NM_001014809.3(CRMP1):c.595G>T (p.Ala199Ser)	CRMP1 (A199S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077546	NM_001014809.3(CRMP1):c.529C>T (p.Arg177Trp)	CRMP1 (R177W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616848	NM_001014809.3(CRMP1):c.521C>T (p.Ala174Val)	CRMP1 (A54V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483376	NM_001014809.3(CRMP1):c.451C>G (p.Leu151Val)	CRMP1 (L31V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238541	NM_001014809.3(CRMP1):c.421G>T (p.Asp141Tyr)	CRMP1 (D141Y +3 more)	Single nucleotide variant (missense variant)	not specified	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 2253401	NM_001014809.3(CRMP1):c.368G>A (p.Arg123Gln)	CRMP1 (R123Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312326	NM_001014809.3(CRMP1):c.361C>G (p.Leu121Val)	CRMP1 (L121V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 756419	NM_001014809.3(CRMP1):c.315G>T (p.Arg105=)	CRMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621682	NM_001014809.3(CRMP1):c.263T>G (p.Val88Gly)	CRMP1 (V88G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077545	NM_001014809.3(CRMP1):c.259G>A (p.Asp87Asn)	CRMP1 (D87N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710474	NM_001014809.3(CRMP1):c.214_236del (p.Ala72fs)	CRMP1 (A72fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2229246	NM_001014809.3(CRMP1):c.218T>G (p.Val73Gly)	CRMP1 (V73G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590681	NM_001014809.3(CRMP1):c.199G>T (p.Ala67Ser)	CRMP1 (A67S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236358	NM_001014809.3(CRMP1):c.178T>G (p.Ser60Ala)	CRMP1 (S60A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540955	NM_001014809.3(CRMP1):c.122G>A (p.Gly41Asp)	CRMP1 (G41D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681214	NM_001014809.3(CRMP1):c.99C>T (p.Gly33=)	CRMP1	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2282902	NM_001014809.3(CRMP1):c.97G>T (p.Gly33Cys)	CRMP1 (G33C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077548	NM_001014809.3(CRMP1):c.80C>T (p.Thr27Ile)	CRMP1 (T27I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351046	NM_001014809.3(CRMP1):c.80C>A (p.Thr27Asn)	CRMP1 (T27N)	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

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