ClinVar for Gene (Select 60314) - ClinVar - NCBI

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

Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3155697	NM_021640.4(MYG1):c.661A>G (p.Met221Val)	MYG1 (M221V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155696	NM_021640.4(MYG1):c.653A>G (p.Lys218Arg)	MYG1 (K218R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155692	NM_021640.4(MYG1):c.25C>G (p.Leu9Val)	LOC112163607, MYG1 (L9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155689	NM_021640.4(MYG1):c.1088G>A (p.Arg363His)	MYG1 (R363H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155685	NM_021640.4(MYG1):c.1064G>A (p.Arg355Gln)	MYG1 (R355Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155682	NM_021640.4(MYG1):c.1057C>T (p.His353Tyr)	MYG1 (H353Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063260	GRCh37/hg19 12q13.13(chr12:53502510-54256094)x3	AAAS, AMHR2 +19 more	Copy number gain	not specified	GUncertain significance
Select item 2684673	GRCh37/hg19 12q13.13(chr12:53583828-53922629)x3	AAAS, AMHR2 +15 more	Copy number gain	not provided	GUncertain significance
Select item 980438	GRCh37/hg19 12q13.13(chr12:53372321-53864490)x1	PCBP2, SP7 +17 more	Copy number loss	not provided	GUncertain significance
Select item 980437	GRCh37/hg19 12q13.13(chr12:53614278-53971802)x1	AAAS, PCBP2 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 619949	NC_000012.12:g.53306793_53321761del	AAAS, LOC130007972 +3 more	Deletion	Glucocorticoid deficiency with achalasia	GPathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 148968	GRCh38/hg38 12q13.13(chr12:52851850-53558824)x3	AAAS, AMHR2 +85 more	Copy number gain	See cases	GLikely pathogenic
Select item 59018	GRCh38/hg38 12q13.13(chr12:53224024-54222450)x1	AAAS, AMHR2 +114 more	Copy number loss	See cases	GPathogenic
Select item 59017	GRCh38/hg38 12q13.13(chr12:53099658-53724525)x1	AAAS, AMHR2 +74 more	Copy number loss	See cases	GPathogenic