ClinVar for Gene (Select 91977) - ClinVar

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

Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3169360	NM_001122853.3(MYOZ3):c.94G>A (p.Val32Met)	MYOZ3, MYOZ3-AS1 (V32M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169355	NM_001122853.3(MYOZ3):c.593C>T (p.Pro198Leu)	MYOZ3 (P198L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169342	NM_001122853.3(MYOZ3):c.454C>A (p.Pro152Thr)	MYOZ3, MYOZ3-AS1 (P152T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3169333	NM_001122853.3(MYOZ3):c.317T>G (p.Leu106Arg)	MYOZ3, MYOZ3-AS1 (L106R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605466	NM_001122853.3(MYOZ3):c.712G>A (p.Ala238Thr)	MYOZ3 (A238T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604971	NM_001122853.3(MYOZ3):c.392G>A (p.Gly131Glu)	MYOZ3, MYOZ3-AS1 (G131E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2490693	NM_001122853.3(MYOZ3):c.545G>T (p.Arg182Leu)	MYOZ3, MYOZ3-AS1 (R182L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484262	NM_001122853.3(MYOZ3):c.625A>G (p.Thr209Ala)	MYOZ3 (T209A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2394997	NM_001122853.3(MYOZ3):c.107T>C (p.Leu36Pro)	MYOZ3, MYOZ3-AS1 (L36P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320720	NM_001122853.3(MYOZ3):c.584A>G (p.Asn195Ser)	MYOZ3 (N195S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314413	NM_001122853.3(MYOZ3):c.567C>A (p.Asn189Lys)	MYOZ3 (N189K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297941	NM_001122853.3(MYOZ3):c.397G>A (p.Val133Ile)	MYOZ3, MYOZ3-AS1 (V133I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278104	NM_001122853.3(MYOZ3):c.409A>G (p.Ser137Gly)	MYOZ3, MYOZ3-AS1 (S137G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CDC25C, CDC42SE2 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 154695	GRCh38/hg38 5q32-33.1(chr5:150356455-150688333)x3	CD74, LOC112997569 +43 more	Copy number gain	See cases	GUncertain significance
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 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: 25