MYADML2[gene] - ClinVar

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Search results

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 154540	GRCh38/hg38 17q25.3(chr17:81859688-82017612)x1	ALYREF, ANAPC11 +40 more	Copy number loss	See cases	GBenign
Select item 60175	GRCh38/hg38 17q25.3(chr17:81885863-82358856)x3	LOC130062008, LOC130062009 +95 more	Copy number gain	See cases	GUncertain significance
Select item 2323439	NM_001145113.3(MYADML2):c.910G>A (p.Val304Met)	MYADML2 (V304M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393847	NM_001145113.3(MYADML2):c.905G>A (p.Arg302His)	MYADML2 (R302H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 559564	NM_001145113.3(MYADML2):c.880G>T (p.Asp294Tyr)	MYADML2 (D294Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3152953	NM_001145113.3(MYADML2):c.871T>G (p.Tyr291Asp)	MYADML2 (Y291D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262716	NM_001145113.3(MYADML2):c.854A>G (p.Tyr285Cys)	MYADML2 (Y285C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297148	NM_001145113.3(MYADML2):c.835G>T (p.Val279Leu)	MYADML2 (V279L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362801	NM_001145113.3(MYADML2):c.829C>A (p.Gln277Lys)	MYADML2 (Q277K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396576	NM_001145113.3(MYADML2):c.818C>A (p.Pro273His)	MYADML2 (P273H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648475	NM_001145113.3(MYADML2):c.798C>T (p.Asn266=)	MYADML2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2362800	NM_001145113.3(MYADML2):c.798C>A (p.Asn266Lys)	MYADML2 (N266K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393013	NM_001145113.3(MYADML2):c.631G>A (p.Val211Met)	MYADML2 (V211M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152949	NM_001145113.3(MYADML2):c.628G>A (p.Ala210Thr)	MYADML2 (A210T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319977	NM_001145113.3(MYADML2):c.611G>A (p.Cys204Tyr)	MYADML2 (C204Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221192	NM_001145113.3(MYADML2):c.581C>T (p.Thr194Ile)	MYADML2 (T194I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619669	NM_001145113.3(MYADML2):c.566G>T (p.Gly189Val)	MYADML2 (G189V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296216	NM_001145113.3(MYADML2):c.566G>A (p.Gly189Glu)	MYADML2 (G189E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218185	NM_001145113.3(MYADML2):c.565G>A (p.Gly189Arg)	MYADML2 (G189R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267688	NM_001145113.3(MYADML2):c.558C>G (p.Ser186Arg)	MYADML2 (S186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297143	NM_001145113.3(MYADML2):c.520G>A (p.Val174Met)	MYADML2 (V174M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395481	NM_001145113.3(MYADML2):c.508G>A (p.Val170Ile)	MYADML2 (V170I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152910	NM_001145113.3(MYADML2):c.478A>G (p.Met160Val)	MYADML2 (M160V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226493	NM_001145113.3(MYADML2):c.460G>A (p.Gly154Ser)	MYADML2 (G154S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328957	NM_001145113.3(MYADML2):c.455G>A (p.Arg152Gln)	MYADML2 (R152Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210964	NM_001145113.3(MYADML2):c.454C>T (p.Arg152Trp)	MYADML2 (R152W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591651	NM_001145113.3(MYADML2):c.427G>A (p.Ala143Thr)	MYADML2 (A143T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403977	NM_001145113.3(MYADML2):c.424T>C (p.Tyr142His)	MYADML2 (Y142H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152890	NM_001145113.3(MYADML2):c.409C>T (p.Leu137Phe)	MYADML2 (L137F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212833	NM_001145113.3(MYADML2):c.406G>A (p.Gly136Arg)	MYADML2 (G136R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152884	NM_001145113.3(MYADML2):c.389C>G (p.Ala130Gly)	MYADML2 (A130G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297149	NM_001145113.3(MYADML2):c.383G>A (p.Arg128His)	MYADML2 (R128H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297150	NM_001145113.3(MYADML2):c.361G>A (p.Gly121Ser)	MYADML2 (G121S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410512	NM_001145113.3(MYADML2):c.302C>T (p.Thr101Met)	MYADML2 (T101M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462946	NM_001145113.3(MYADML2):c.298G>A (p.Ala100Thr)	MYADML2 (A100T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263593	NM_001145113.3(MYADML2):c.296G>A (p.Cys99Tyr)	MYADML2 (C99Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548195	NM_001145113.3(MYADML2):c.287C>A (p.Thr96Asn)	MYADML2 (T96N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600314	NM_001145113.3(MYADML2):c.232G>A (p.Gly78Ser)	MYADML2 (G78S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2307619	NM_001145113.3(MYADML2):c.197C>T (p.Ala66Val)	MYADML2 (A66V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3297146	NM_001145113.3(MYADML2):c.190G>A (p.Val64Ile)	MYADML2 (V64I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297147	NM_001145113.3(MYADML2):c.79G>A (p.Val27Met)	MYADML2 (V27M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306856	NM_001145113.3(MYADML2):c.58T>C (p.Ser20Pro)	MYADML2 (S20P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487574	NM_001145113.3(MYADML2):c.56C>T (p.Thr19Ile)	MYADML2 (T19I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307070	NM_001145113.3(MYADML2):c.52G>A (p.Val18Met)	MYADML2 (V18M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297144	NM_001145113.3(MYADML2):c.22C>T (p.Pro8Ser)	MYADML2 (P8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2445210	Single allele	FOXK2, GCGR +51 more	Deletion	See cases	GPathogenic
Select item 2425655	NC_000017.10:g.(?_79891090)_(80333370_?)del	ASPSCR1, CCDC57 +17 more	Deletion	not provided	GPathogenic
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	AATK, ACTG1 +65 more	Copy number gain	not provided	GPathogenic
Select item 687520	GRCh37/hg19 17q25.3(chr17:79663313-80197463)x3	ALYREF, ANAPC11 +26 more	Copy number gain	not provided	GUncertain significance
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 68