ClinVar for Gene (Select 10296) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292560	NM_001017405.3(MAEA):c.421A>T (p.Thr141Ser)	MAEA (T93S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3292559	NM_001017405.3(MAEA):c.907T>C (p.Tyr303His)	MAEA (Y262H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292558	NM_001017405.3(MAEA):c.1114C>A (p.Gln372Lys)	MAEA (Q331K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122014	NM_001017405.3(MAEA):c.712C>G (p.Gln238Glu)	MAEA (Q190E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122013	NM_001017405.3(MAEA):c.709C>T (p.Arg237Cys)	MAEA (R169C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122012	NM_001017405.3(MAEA):c.454G>A (p.Glu152Lys)	MAEA (E104K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3122011	NM_001017405.3(MAEA):c.431A>G (p.Lys144Arg)	MAEA (K144R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062809	GRCh37/hg19 4p16.3(chr4:68346-3122209)x1	ADD1, ATP5ME +46 more	Copy number loss	not specified	GPathogenic
Select item 3062796	GRCh37/hg19 4p16.3(chr4:769757-2009467)x3	CPLX1, CRIPAK +20 more	Copy number gain	not specified	GLikely pathogenic
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 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 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 3062770	GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	ADD1, ATP5ME +51 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 2685953	GRCh37/hg19 4p16.3(chr4:444267-1325962)x3	ATP5ME, CPLX1 +16 more	Copy number gain	not provided	GUncertain significance
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 2685098	GRCh37/hg19 4p16.3(chr4:68346-2681414)x1	NELFA, NICOL1 +39 more	Copy number loss	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 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	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 2479214	NM_001017405.3(MAEA):c.83C>T (p.Thr28Met)	MAEA (T27M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2424606	NC_000004.11:g.(?_493125)_(3495228_?)dup	FGFRL1, GAK +46 more	Duplication	Fibrous dysplasia of jaw	GUncertain significance
Select item 2422458	NC_000004.11:g.(?_493125)_(1843544_?)del	ATP5ME, CPLX1 +25 more	Deletion	not provided	GUncertain significance
Select item 2408715	NM_001017405.3(MAEA):c.34A>G (p.Met12Val)	LOC129991989, MAEA (M12V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336484	NM_001017405.3(MAEA):c.193G>A (p.Asp65Asn)	MAEA (D17N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323744	NM_001017405.3(MAEA):c.64C>T (p.Leu22Phe)	LOC129991989, MAEA (L22F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316921	NM_001017405.3(MAEA):c.452T>C (p.Ile151Thr)	MAEA (I151T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2297393	NM_001017405.3(MAEA):c.373A>G (p.Met125Val)	MAEA (M124V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2288320	NM_001017405.3(MAEA):c.884C>T (p.Ser295Leu)	MAEA (S254L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808616	GRCh37/hg19 4p16.3(chr4:963688-2913553)x3	ADD1, C4orf48 +28 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808173	GRCh37/hg19 4p16.3(chr4:1180181-2009278)x3	CRIPAK, CTBP1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1807847	GRCh37/hg19 4p16.3(chr4:68346-2437290)x1	ATP5ME, C4orf48 +37 more	Copy number loss	not provided	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1707423	GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1	ADD1, ADRA2C +63 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1703660	GRCh37/hg19 4p16.3(chr4:68345-1512353)	ATP5ME, CPLX1 +23 more	Copy number loss	Global developmental delay	GLikely pathogenic
Select item 1703575	Single allele	FAM53A, PIGG +29 more	Complex	Heart, malformation of	GPathogenic
Select item 1459277	NC_000004.11:g.(?_493125)_(2065854_?)del	ATP5ME, CPLX1 +29 more	Deletion	not provided	GPathogenic
Select item 1421534	NC_000004.11:g.(?_493125)_(3495228_?)del	MAEA, MFSD10 +46 more	Deletion	Fibrous dysplasia of jaw	GUncertain significance
Select item 1341163	GRCh37/hg19 4p16.3(chr4:68345-1675143)x1	ATP5ME, CPLX1 +24 more	Copy number loss	not provided	GPathogenic
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	FGFBP2, SMIM20 +161 more	Copy number gain	not provided	GPathogenic
Select item 1180545	GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	RGS12, RNF212 +140 more	Copy number loss	not provided	GPathogenic
Select item 1047903	GRCh37/hg19 4p16.3(chr4:388344-3872380)	HGFAC, HTT +48 more	Copy number loss	Generalized hypotonia +2 more	GPathogenic
Select item 979468	GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1	ZFYVE28, CRMP1 +65 more	Copy number loss	not provided	GPathogenic
Select item 979467	GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1	HGFAC, NOP14 +60 more	Copy number loss	not provided	GPathogenic
Select item 979459	GRCh37/hg19 4p16.3(chr4:68345-2503033)x3	HAUS3, GAK +38 more	Copy number gain	not provided	GPathogenic
Select item 979458	GRCh37/hg19 4p16.3(chr4:68345-2137211)x1	POLN, CPLX1 +34 more	Copy number loss	not provided	GPathogenic
Select item 979456	GRCh37/hg19 4p16.3(chr4:1-1328868)x1	ZNF718, RNF212 +20 more	Copy number loss	not provided	GPathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 816497	GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1	ADD1, ABLIM2 +146 more	Copy number loss	See cases	GPathogenic
Select item 814524	GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1	ABLIM2, ACOX3 +114 more	Copy number loss	not provided	GPathogenic
Select item 814523	GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1	ADD1, ADRA2C +76 more	Copy number loss	not provided	GPathogenic
Select item 814522	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1	ABLIM2, ACOX3 +90 more	Copy number loss	not provided	GPathogenic
Select item 814521	GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1	ABLIM2, ACOX3 +111 more	Copy number loss	not provided	GPathogenic
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 814518	GRCh37/hg19 4p16.3(chr4:68345-2786584)x1	NKX1-1, MXD4 +40 more	Copy number loss	not provided	GPathogenic
Select item 787794	NM_001017405.3(MAEA):c.333C>T (p.Ser111=)	MAEA	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 717838	NM_001017405.3(MAEA):c.309C>T (p.Ile103=)	MAEA	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 687798	GRCh37/hg19 4p16.3(chr4:1153214-1416920)x3	CRIPAK, CTBP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686294	GRCh37/hg19 4p16.3(chr4:68345-4051616)x3	ADD1, ADRA2C +52 more	Copy number gain	not provided	GPathogenic
Select item 685740	GRCh37/hg19 4p16.3(chr4:1263544-1756564)x3	CRIPAK, FAM53A +6 more	Copy number gain	not provided	GUncertain significance
Select item 625700	GRCh37/hg19 4p16.3(chr4:1305802-2460571)	HAUS3, FAM53A +16 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 625664	GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)	JAKMIP1, KIAA0232 +90 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 562876	GRCh37/hg19 4p16.3(chr4:917519-1385258)x3	GAK, RNF212 +9 more	Copy number gain	not provided	GUncertain significance
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 560032	Single allele	ATP5ME, CPLX1 +23 more	Duplication	not provided	GUncertain significance
Select item 443978	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3	ABLIM2, ACOX3 +90 more	Copy number gain	See cases	GLikely pathogenic
Select item 443200	GRCh37/hg19 4p16.3(chr4:68345-1677853)x1	ATP5ME, CPLX1 +24 more	Copy number loss	See cases	GUncertain significance
Select item 443045	GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1	NELFA, NICOL1 +130 more	Copy number loss	See cases	GPathogenic
Select item 443042	GRCh37/hg19 4p16.3(chr4:68345-4044985)x1	ADD1, ADRA2C +52 more	Copy number loss	See cases	GPathogenic
Select item 442536	GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1	ABLIM2, ACOX3 +120 more	Copy number loss	See cases	GPathogenic
Select item 442291	GRCh37/hg19 4p16.3(chr4:68345-3713599)x3	ADD1, ATP5ME +51 more	Copy number gain	See cases	GLikely pathogenic
Select item 442268	GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1	ABLIM2, ACOX3 +114 more	Copy number loss	See cases	GPathogenic
Select item 442177	GRCh37/hg19 4p16.3(chr4:68345-3891984)x1	ADD1, ADRA2C +52 more	Copy number loss	See cases	GPathogenic
Select item 441927	GRCh37/hg19 4p16.3-16.2(chr4:68345-5319773)x1	ADD1, ADRA2C +61 more	Copy number loss	See cases	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441571	GRCh37/hg19 4p16.3(chr4:910410-1798461)x3	CRIPAK, CTBP1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 395188	GRCh37/hg19 4p16.3(chr4:29214-1925508)x1	ATP5ME, CPLX1 +30 more	Copy number loss	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 394281	GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1	ABLIM2, ACOX3 +121 more	Copy number loss	See cases	GPathogenic
Select item 253666	GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3	ABLIM2, ACOX3 +89 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253474	GRCh37/hg19 4p16.3(chr4:1190911-2255904)x1	NSD2, FGFR3 +17 more	Copy number loss	See cases	GPathogenic
Select item 253431	GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	BOD1L1, LDB2 +161 more	Copy number loss	See cases	GPathogenic
Select item 252966	GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1	KIAA0232, LETM1 +91 more	Copy number loss	See cases	GPathogenic
Select item 219020	GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1	C4orf50, EVC +140 more	Copy number loss	See cases	GPathogenic
Select item 161057	GRCh38/hg38 4p16.3(chr4:72555-2108607)x1	ATP5ME, CPLX1 +134 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

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