MED27[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 59135	GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1	LOC130002822, LOC130002823 +160 more	Copy number loss	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 58500	GRCh38/hg38 9q34.13(chr9:131702422-132271840)x3	LOC113839534, LOC121366032 +25 more	Copy number gain	See cases	GUncertain significance
Select item 3336059	NM_004269.4(MED27):c.898C>T (p.Arg300Ter)	MED27 (R264* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 816814	NM_004269.4(MED27):c.878C>T (p.Pro293Leu)	MED27 (P257L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 1064750	NM_004269.4(MED27):c.871G>A (p.Gly291Ser)	MED27 (G291S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2313555	NM_004269.4(MED27):c.866A>G (p.Gln289Arg)	MED27 (Q253R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3125057	NM_004269.4(MED27):c.850T>C (p.Cys284Arg)	MED27 (C248R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1064749	NM_004269.4(MED27):c.839C>T (p.Pro280Leu)	MED27 (P280L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2405004	NM_004269.4(MED27):c.818dup (p.Tyr273Ter)	MED27 (Y237* +1 more)	Duplication (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 1064746	NM_004269.4(MED27):c.776C>T (p.Pro259Leu)	MED27 (P259L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia	GPathogenic
Select item 2266194	NM_004269.4(MED27):c.711A>T (p.Gln237His)	MED27 (Q201H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1064751	NM_004269.4(MED27):c.682-2A>G	MED27	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia	GPathogenic
Select item 2659637	NM_004269.4(MED27):c.682-3859T>C	MED27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2338747	NM_004269.4(MED27):c.578C>G (p.Thr193Ser)	MED27 (T193S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2430333	NM_004269.4(MED27):c.567G>C (p.Met189Ile)	MED27 (M189I)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1064752	NM_004269.4(MED27):c.565_566del (p.Met189fs)	MED27 (M189fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1804300	NM_004269.4(MED27):c.527T>A (p.Met176Lys)	MED27 (M176K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804299	NM_004269.4(MED27):c.523G>A (p.Glu175Lys)	MED27 (E175K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375996	NM_004269.4(MED27):c.483T>A (p.Tyr161Ter)	MED27 (Y161*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3378321	NM_004269.4(MED27):c.451C>T (p.Gln151Ter)	MED27 (Q151*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2231673	NM_004269.4(MED27):c.448G>A (p.Ala150Thr)	MED27 (A150T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3125056	NM_004269.4(MED27):c.442C>A (p.Pro148Thr)	MED27 (P148T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294068	NM_004269.4(MED27):c.409G>T (p.Ala137Ser)	MED27 (A137S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1064748	NM_004269.4(MED27):c.392_393del (p.Gln131fs)	MED27 (Q131fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia	GPathogenic
Select item 148239	GRCh38/hg38 9q34.13(chr9:132018736-132237086)x1	LOC121366032, LOC126860780 +4 more	Copy number loss	See cases	GUncertain significance
Select item 2261627	NM_004269.4(MED27):c.319C>G (p.Leu107Val)	MED27 (L107V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2659638	NM_004269.4(MED27):c.270G>A (p.Gly90=)	MED27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2292449	NM_004269.4(MED27):c.229G>A (p.Val77Ile)	MED27 (V77I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2662131	NM_004269.4(MED27):c.209del (p.Leu70fs)	MED27 (L70fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1064747	NM_004269.4(MED27):c.188T>G (p.Val63Gly)	MED27 (V63G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia	GPathogenic
Select item 2659639	NM_004269.4(MED27):c.150G>A (p.Lys50=)	MED27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2690930	NM_004269.4(MED27):c.74G>A (p.Arg25His)	LOC130002869, MED27 (R25H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia	GUncertain significance
Select item 2264558	NM_004269.4(MED27):c.32T>C (p.Leu11Pro)	LOC130002869, MED27 (L11P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3245116	NC_000009.11:g.(?_131346980)_(135942612_?)dup	BARHL1, C9orf50 +62 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425935	NC_000009.11:g.(?_131857676)_(135942612_?)dup	ABL1, AIF1L +45 more	Duplication	not provided	GUncertain significance
Select item 2425485	NC_000009.11:g.(?_133884602)_(135942612_?)dup	AIF1L, AK8 +21 more	Duplication	not provided	GUncertain significance
Select item 1809164	GRCh37/hg19 9q34.13(chr9:134706598-134908360)x1	MED27	Copy number loss	not provided	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 980355	GRCh37/hg19 9q34.13(chr9:134921153-135214984)x3	MED27, SETX +1 more	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 652388	NC_000009.11:g.(?_134379574)_(138678377_?)dup	ABO, ADAMTS13 +55 more	Duplication	Ehlers-Danlos syndrome, classic type	GUncertain significance
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253764	GRCh37/hg19 9q34.13(chr9:134353309-134839944)x3	POMT1, RAPGEF1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 74