ClinVar for Gene (Select 255275) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3297149	NM_001145113.3(MYADML2):c.383G>A (p.Arg128His)	MYADML2 (R128H)	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 3297147	NM_001145113.3(MYADML2):c.79G>A (p.Val27Met)	MYADML2 (V27M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3297144	NM_001145113.3(MYADML2):c.22C>T (p.Pro8Ser)	MYADML2 (P8S)	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 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	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 3152949	NM_001145113.3(MYADML2):c.628G>A (p.Ala210Thr)	MYADML2 (A210T)	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 3152890	NM_001145113.3(MYADML2):c.409C>T (p.Leu137Phe)	MYADML2 (L137F)	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 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2648475	NM_001145113.3(MYADML2):c.798C>T (p.Asn266=)	MYADML2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2600314	NM_001145113.3(MYADML2):c.232G>A (p.Gly78Ser)	MYADML2 (G78S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2548195	NM_001145113.3(MYADML2):c.287C>A (p.Thr96Asn)	MYADML2 (T96N)	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 2462946	NM_001145113.3(MYADML2):c.298G>A (p.Ala100Thr)	MYADML2 (A100T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2410512	NM_001145113.3(MYADML2):c.302C>T (p.Thr101Met)	MYADML2 (T101M)	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 2396576	NM_001145113.3(MYADML2):c.818C>A (p.Pro273His)	MYADML2 (P273H)	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 2393847	NM_001145113.3(MYADML2):c.905G>A (p.Arg302His)	MYADML2 (R302H)	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 2362801	NM_001145113.3(MYADML2):c.829C>A (p.Gln277Lys)	MYADML2 (Q277K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2328957	NM_001145113.3(MYADML2):c.455G>A (p.Arg152Gln)	MYADML2 (R152Q)	Single nucleotide variant (missense variant)	not specified	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 2319977	NM_001145113.3(MYADML2):c.611G>A (p.Cys204Tyr)	MYADML2 (C204Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2307070	NM_001145113.3(MYADML2):c.52G>A (p.Val18Met)	MYADML2 (V18M)	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 2296216	NM_001145113.3(MYADML2):c.566G>A (p.Gly189Glu)	MYADML2 (G189E)	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 2263593	NM_001145113.3(MYADML2):c.296G>A (p.Cys99Tyr)	MYADML2 (C99Y)	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 2226493	NM_001145113.3(MYADML2):c.460G>A (p.Gly154Ser)	MYADML2 (G154S)	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 2218185	NM_001145113.3(MYADML2):c.565G>A (p.Gly189Arg)	MYADML2 (G189R)	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 2210964	NM_001145113.3(MYADML2):c.454C>T (p.Arg152Trp)	MYADML2 (R152W)	Single nucleotide variant (missense variant)	not specified	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 559564	NM_001145113.3(MYADML2):c.880G>T (p.Asp294Tyr)	MYADML2 (D294Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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
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 154540	GRCh38/hg38 17q25.3(chr17:81859688-82017612)x1	ALYREF, ANAPC11 +40 more	Copy number loss	See cases	GBenign
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 60175	GRCh38/hg38 17q25.3(chr17:81885863-82358856)x3	LOC130062008, LOC130062009 +95 more	Copy number gain	See cases	GUncertain significance
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
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 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 68