ClinVar for Gene (Select 91977) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298120	NM_001122853.3(MYOZ3):c.401C>T (p.Pro134Leu)	MYOZ3, MYOZ3-AS1 (P134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298119	NM_001122853.3(MYOZ3):c.594G>A (p.Pro198=)	MYOZ3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3298118	NM_001122853.3(MYOZ3):c.418G>A (p.Ala140Thr)	MYOZ3, MYOZ3-AS1 (A140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	AFF4, C5orf46 +385 more	Deletion	Familial adenomatous polyposis 1 +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	LOC132089226, LOC132089227 +1167 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

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Links from Gene

Items: 28