MYMK[gene] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 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 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	LOC129390118, LOC130002920 +439 more	Copy number gain	See cases	GPathogenic
Select item 799142	NM_001080483.3(MYMK):c.642C>T (p.Ser214=)	MYMK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742255	NM_001080483.3(MYMK):c.615G>A (p.Pro205=)	MYMK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3160315	NM_001080483.3(MYMK):c.614C>T (p.Pro205Leu)	MYMK (P205L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548295	NM_001080483.3(MYMK):c.565A>G (p.Met189Val)	MYMK (M189V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 430840	NM_001080483.3(MYMK):c.553T>C (p.Cys185Arg)	MYMK (C185R)	Single nucleotide variant (missense variant)	Congenital nonprogressive myopathy with Moebius and Robin sequences	GPathogenic
Select item 3160308	NM_001080483.3(MYMK):c.542G>C (p.Ser181Thr)	MYMK (S181T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2633199	NM_001080483.3(MYMK):c.542G>A (p.Ser181Asn)	MYMK (S181N)	Single nucleotide variant (missense variant)	MYMK-related disorder	GUncertain significance
Select item 1031044	NM_001080483.3(MYMK):c.535G>A (p.Val179Ile)	MYMK (V179I)	Single nucleotide variant (missense variant)	Congenital nonprogressive myopathy with Moebius and Robin sequences	GUncertain significance
Select item 1179965	NM_001080483.3(MYMK):c.534T>C (p.Tyr178=)	MYMK	Single nucleotide variant (synonymous variant)	Congenital nonprogressive myopathy with Moebius and Robin sequences +1 more	GBenign
Select item 717731	NM_001080483.3(MYMK):c.517-4G>A	MYMK	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1286504	NM_001080483.3(MYMK):c.517-169T>G	MYMK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225528	NM_001080483.3(MYMK):c.517-208T>G	MYMK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2592935	NM_001080483.3(MYMK):c.506T>G (p.Phe169Cys)	MYMK (F169C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3239014	NM_001080483.3(MYMK):c.486G>C (p.Ala162=)	MYMK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 986372	NM_001080483.3(MYMK):c.482_483insCCCA (p.Ala162fs)	MYMK (A162fs)	Insertion (frameshift variant)	Congenital nonprogressive myopathy with Moebius and Robin sequences	GUncertain significance
Select item 989380	NM_001080483.3(MYMK):c.481G>C (p.Gly161Arg)	MYMK (G161R)	Single nucleotide variant (missense variant)	Congenital nonprogressive myopathy with Moebius and Robin sequences	GUncertain significance
Select item 764040	NM_001080483.3(MYMK):c.480C>T (p.Phe160=)	MYMK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717683	NM_001080483.3(MYMK):c.468C>T (p.Pro156=)	MYMK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 430843	NM_001080483.3(MYMK):c.461T>C (p.Ile154Thr)	MYMK (I154T)	Single nucleotide variant (missense variant)	Congenital nonprogressive myopathy with Moebius and Robin sequences	GPathogenic
Select item 3251986	NM_001080483.3(MYMK):c.428T>C (p.Leu143Pro)	MYMK (L143P)	Single nucleotide variant (missense variant)	Carey-Fineman-Ziter syndrome 1	GUncertain significance
Select item 3160300	NM_001080483.3(MYMK):c.418A>C (p.Lys140Gln)	MYMK (K140Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1269016	NM_001080483.3(MYMK):c.399+361A>G	MYMK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233419	NM_001080483.3(MYMK):c.399+27C>G	MYMK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 813960	NM_001080483.3(MYMK):c.399+5G>A	MYMK	Single nucleotide variant (intron variant)	Congenital nonprogressive myopathy with Moebius and Robin sequences +1 more	GUncertain significance
Select item 1314088	NM_001080483.3(MYMK):c.365T>C (p.Ile122Thr)	MYMK (I122T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 752841	NM_001080483.3(MYMK):c.348G>C (p.Gly116=)	MYMK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3160293	NM_001080483.3(MYMK):c.316G>A (p.Val106Met)	MYMK (V106M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 870390	NM_001080483.3(MYMK):c.305T>C (p.Leu102Pro)	MYMK (L102P)	Single nucleotide variant (missense variant)	Congenital nonprogressive myopathy with Moebius and Robin sequences	GLikely pathogenic
Select item 756458	NM_001080483.3(MYMK):c.300C>T (p.Gly100=)	MYMK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 430841	NM_001080483.3(MYMK):c.298G>A (p.Gly100Ser)	MYMK (G100S)	Single nucleotide variant (missense variant)	See cases +1 more	GPathogenic/Likely pathogenic
Select item 430839	NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr)	MYMK (P91T)	Single nucleotide variant (missense variant)	Congenital nonprogressive myopathy with Moebius and Robin sequences +2 more	GPathogenic/Likely pathogenic
Select item 753028	NM_001080483.3(MYMK):c.267C>T (p.Asp89=)	MYMK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3160290	NM_001080483.3(MYMK):c.265G>A (p.Asp89Asn)	MYMK (D89N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297654	NM_001080483.3(MYMK):c.264C>G (p.Phe88Leu)	MYMK (F88L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508421	NM_001080483.3(MYMK):c.253C>A (p.Leu85Met)	MYMK (L85M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782529	NM_001080483.3(MYMK):c.253C>T (p.Leu85=)	MYMK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1183414	NM_001080483.3(MYMK):c.251-18T>C	MYMK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271214	NM_001080483.3(MYMK):c.250+208T>G	MYMK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3160281	NM_001080483.3(MYMK):c.250+6T>G	MYMK	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2659695	NM_001080483.3(MYMK):c.243G>A (p.Ser81=)	MYMK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1189189	NM_001080483.3(MYMK):c.242C>T (p.Ser81Leu)	MYMK (S81L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 787887	NM_001080483.3(MYMK):c.219G>A (p.Gly73=)	MYMK	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1190976	NM_001080483.3(MYMK):c.190G>A (p.Asp64Asn)	MYMK (D64N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2513515	NM_001080483.3(MYMK):c.165G>C (p.Leu55Phe)	MYMK (L55F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160274	NM_001080483.3(MYMK):c.160G>A (p.Gly54Ser)	MYMK (G54S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3025532	NM_001080483.3(MYMK):c.159C>T (p.Pro53=)	MYMK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661971	NM_001080483.3(MYMK):c.159del (p.Gly54fs)	MYMK (G54fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1227520	NM_001080483.3(MYMK):c.136-27T>C	MYMK	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1262482	NM_001080483.3(MYMK):c.136-43T>C	MYMK	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1235689	NM_001080483.3(MYMK):c.136-144C>T	MYMK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232311	NM_001080483.3(MYMK):c.135+179A>G	MYMK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244206	NM_001080483.3(MYMK):c.135+81T>G	MYMK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3160319	NM_001080483.3(MYMK):c.86G>A (p.Arg29Gln)	MYMK (R29Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160298	NM_001080483.3(MYMK):c.32C>A (p.Pro11His)	MYMK (P11H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2433959	NM_001080483.3(MYMK):c.8C>T (p.Thr3Met)	MYMK (T3M)	Single nucleotide variant (missense variant)	Carey-Fineman-Ziter syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 430842	NM_001080483.3(MYMK):c.2T>A (p.Met1Lys)	MYMK (M1K)	Single nucleotide variant (missense variant +1 more)	Congenital nonprogressive myopathy with Moebius and Robin sequences	GPathogenic
Select item 1280801	NM_001080483.3(MYMK):c.-49T>C	MYMK	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1257669	NC_000009.12:g.133524994T>G	MYMK	Single nucleotide variant	not provided	GBenign
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	ABCA2, ABL1 +147 more	Duplication	not provided	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 2684589	GRCh37/hg19 9q34.2(chr9:136378366-136726628)x3	ADAMTSL2, DBH +4 more	Copy number gain	not provided	GUncertain significance
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	ABCA2, ADAMTS13 +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
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 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	ABCA2, ABO +100 more	Duplication	Rafiq syndrome +4 more	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 833105	NC_000009.11:g.(?_135771850)_(137038881_?)dup	BRD3, CACFD1 +26 more	Duplication	Tuberous sclerosis 1	GUncertain significance
Select item 832997	NC_000009.11:g.(?_135771602)_(136769889_?)dup	ABO, ADAMTS13 +23 more	Duplication	Tuberous sclerosis 1	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	GTF3C4, GTF3C5 +55 more	Duplication	Ehlers-Danlos syndrome, classic type	GUncertain significance
Select item 563671	GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3	ABCA2, ABO +130 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ISCA1, MIR32 +555 more	Copy number gain	Global developmental delay +2 more	GLikely pathogenic
Select item 523169	GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1	DPH7, OLFM1 +128 more	Copy number loss	mTOR Inhibitor response	Gdrug response
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 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: 96