6872[HGNC] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 151718	GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1	ABRAXAS1, AFF1 +146 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 147434	GRCh38/hg38 4q21.23-22.1(chr4:84329551-87679204)x1	AFF1, AFF1-AS1 +62 more	Copy number loss	See cases	GPathogenic
Select item 146118	GRCh38/hg38 4q21.23-21.3(chr4:84577519-86077547)x3	ARHGAP24, CDS1 +17 more	Copy number gain	See cases	GPathogenic
Select item 152923	GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	ABCG2, AFF1 +126 more	Copy number loss	See cases	GPathogenic
Select item 152920	GRCh38/hg38 4q21.23-21.3(chr4:85972086-87031375)x1	AFF1, AFF1-AS1 +21 more	Copy number loss	See cases	GPathogenic
Select item 151681	GRCh38/hg38 4q21.3(chr4:86002088-86051292)x3	ARHGAP24, MAPK10	Copy number gain	See cases	GUncertain significance
Select item 6746	NC_000004.12:g.(?_86010404)_(86067956_86098523)del	MAPK10	Deletion	Macrocephaly and epileptic encephalopathy	GUncertain significance
Select item 349920	NM_138982.4(MAPK10):c.*1784AAG[1]	MAPK10	Microsatellite (3 prime UTR variant)	Epileptic encephalopathy	GLikely benign
Select item 349931	NM_138982.4(MAPK10):c.1146_1150del	MAPK10	Deletion (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 2486418	NM_138982.4(MAPK10):c.1375C>T (p.Pro459Ser)	MAPK10 (P314S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123215	NM_138982.4(MAPK10):c.1321A>G (p.Thr441Ala)	MAPK10 (T403A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043002	NM_138982.4(MAPK10):c.1293G>A (p.Ser431=)	MAPK10	Single nucleotide variant (synonymous variant +1 more)	MAPK10-related disorder	GLikely benign
Select item 161805	NM_138982.4(MAPK10):c.1271G>A (p.Ser424Asn)	MAPK10 (S424N +2 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 3057977	NM_138982.4(MAPK10):c.1252+4C>T	MAPK10	Single nucleotide variant (intron variant)	MAPK10-related disorder	GLikely benign
Select item 3038353	NM_138982.4(MAPK10):c.1223G>T (p.Gly408Val)	MAPK10 (G408V +2 more)	Single nucleotide variant (missense variant)	MAPK10-related disorder	GLikely benign
Select item 129586	NM_138982.4(MAPK10):c.1111-6C>T	MAPK10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2478267	NM_138982.4(MAPK10):c.1105G>A (p.Glu369Lys)	MAPK10 (E331K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 349949	NM_138982.4(MAPK10):c.1080C>T (p.Asn360=)	MAPK10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2431539	NM_138982.4(MAPK10):c.1057G>A (p.Ala353Thr)	MAPK10 (A208T +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy with cognitive deficit	GUncertain significance
Select item 349950	NM_138982.4(MAPK10):c.1053C>T (p.Asp351=)	MAPK10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 129587	NM_138982.4(MAPK10):c.960G>A (p.Ala320=)	MAPK10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 747293	NM_138982.4(MAPK10):c.930C>G (p.Pro310=)	MAPK10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3357265	NM_138982.4(MAPK10):c.731-2A>G	MAPK10	Single nucleotide variant (splice acceptor variant +1 more)	MAPK10-related disorder	GUncertain significance
Select item 764533	NM_138982.4(MAPK10):c.606A>G (p.Thr202=)	MAPK10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3123217	NM_138982.4(MAPK10):c.506T>C (p.Leu169Pro)	MAPK10 (L169P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 349951	NM_138982.4(MAPK10):c.426-5_426-3dup	MAPK10	Duplication (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 763905	NM_138982.4(MAPK10):c.348G>A (p.Lys116=)	MAPK10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 211434	NM_138982.4(MAPK10):c.339C>T (p.Val113=)	MAPK10	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3058508	NM_138982.4(MAPK10):c.237-10A>G	MAPK10	Single nucleotide variant (intron variant)	MAPK10-related disorder	GLikely benign
Select item 3123214	NM_138982.4(MAPK10):c.121A>C (p.Lys41Gln)	MAPK10, MAPK10-AS1 (K3Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123218	NM_138982.4(MAPK10):c.95A>T (p.Tyr32Phe)	MAPK10, MAPK10-AS1 (Y32F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 793018	NM_138982.4(MAPK10):c.24C>T (p.Tyr8=)	MAPK10-AS1, MAPK10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 211433	NM_138982.4(MAPK10):c.21C>A (p.Tyr7Ter)	MAPK10, MAPK10-AS1 (Y7*)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 3123216	NM_138982.4(MAPK10):c.20A>G (p.Tyr7Cys)	MAPK10, MAPK10-AS1 (Y7C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 152893	GRCh38/hg38 4q21.3(chr4:86276186-86884105)x1	C4orf36, LOC129992795 +5 more	Copy number loss	See cases	GUncertain significance
Select item 1049787	NC_000004.12:g.86457483C>A	MAPK10	Single nucleotide variant (genic upstream transcript variant)	not provided	GUncertain significance
Select item 3062764	GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1	ABCG2, ABRAXAS1 +59 more	Copy number loss	not specified	GPathogenic
Select item 3062760	GRCh37/hg19 4q21.23-22.3(chr4:85139670-96295033)x3	ABCG2, AFF1 +40 more	Copy number gain	not specified	GLikely pathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685979	GRCh37/hg19 4q21.3(chr4:87265364-87934081)x3	AFF1, C4orf36 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2685978	GRCh37/hg19 4q21.3(chr4:87027204-87536353)x3	MAPK10, PTPN13	Copy number gain	not provided	GUncertain significance
Select item 2685977	GRCh37/hg19 4q21.23-21.3(chr4:86788719-87014832)x3	ARHGAP24, MAPK10	Copy number gain	not provided	GUncertain significance
Select item 2685119	GRCh37/hg19 4q21.3(chr4:87162492-87321894)x1	MAPK10	Copy number loss	not provided	GUncertain significance
Select item 2685118	GRCh37/hg19 4q21.23-21.3(chr4:85721709-86937764)x1	ARHGAP24, MAPK10 +1 more	Copy number loss	not provided	GPathogenic
Select item 1527108	GRCh37/hg19 4q21.23-22.1(chr4:85839771-93071150)	ABCG2, AFF1 +31 more	Copy number loss	not specified	GPathogenic
Select item 1527103	GRCh37/hg19 4q21.21-22.1(chr4:81054789-90667421)	ABCG2, ABRAXAS1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1527100	GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225)	ABCG2, ABRAXAS1 +63 more	Copy number loss	not specified	GPathogenic
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1341211	GRCh37/hg19 4q21.21-22.1(chr4:80467886-93362064)x1	ABCG2, ABRAXAS1 +58 more	Copy number loss	not provided	GPathogenic
Select item 1340466	GRCh37/hg19 4q21.3(chr4:87126778-87764431)x3	MAPK10, PTPN13 +1 more	Copy number gain	not provided	GLikely benign
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 814578	GRCh37/hg19 4q21.23-21.3(chr4:85703330-87825978)x1	ARHGAP24, C4orf36 +4 more	Copy number loss	not provided	GUncertain significance
Select item 689107	GRCh37/hg19 4q21.3(chr4:87306927-87496888)x3	MAPK10	Copy number gain	not provided	GUncertain significance
Select item 686820	GRCh37/hg19 4q21.3(chr4:86913748-86983232)x3	ARHGAP24, MAPK10	Copy number gain	not provided	GUncertain significance
Select item 686536	GRCh37/hg19 4q21.3(chr4:86911035-86983232)x3	ARHGAP24, MAPK10	Copy number gain	not provided	GUncertain significance
Select item 638111	GRCh37/hg19 4q21.21-22.1(chr4:80482400-92572499)x1	GPRIN3, HELQ +57 more	Copy number loss	See cases	GPathogenic
Select item 625784	GRCh37/hg19 4q21.21-22.1(chr4:82043901-88334228)	ABRAXAS1, AFF1 +28 more	Copy number loss	not provided	GPathogenic
Select item 562937	GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1	ABCG2, ABRAXAS1 +60 more	Copy number loss	not provided	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 394976	GRCh37/hg19 4q21.21-22.1(chr4:82283358-90341831)x1	ABCG2, ABRAXAS1 +47 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 393583	GRCh37/hg19 4q21.3(chr4:87165664-87259133)x1	MAPK10	Copy number loss	not specified	GLikely benign

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Items: 70