ClinVar for MedGen (Select 934612) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062079	NM_024854.5(PYROXD1):c.750+5C>A	PYROXD1	Single nucleotide variant (intron variant)	Myofibrillar myopathy 8	GUncertain significance
Select item 2498275	NM_024854.5(PYROXD1):c.334_337del (p.Leu112fs)	PYROXD1 (L112fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2498274	NM_024854.5(PYROXD1):c.1061A>G (p.Tyr354Cys)	PYROXD1 (Y283C +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 8	GPathogenic
Select item 1934646	NM_024854.5(PYROXD1):c.394C>T (p.Arg132Cys)	PYROXD1 (R132C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1452765	NM_024854.5(PYROXD1):c.892_895del (p.Val298fs)	PYROXD1 (V298fs +2 more)	Deletion (frameshift variant)	Myofibrillar myopathy 8 +1 more	GPathogenic/Likely pathogenic
Select item 1278368	NM_024854.5(PYROXD1):c.489-23A>G	PYROXD1	Single nucleotide variant (intron variant)	Myofibrillar myopathy 8 +1 more	GBenign
Select item 1277227	NM_024854.5(PYROXD1):c.-44T>C	LOC130007527, PYROXD1	Single nucleotide variant (5 prime UTR variant)	Myofibrillar myopathy 8 +1 more	GBenign
Select item 1262420	NM_024854.5(PYROXD1):c.165+22G>C	PYROXD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1260059	NM_024854.5(PYROXD1):c.751-36T>C	PYROXD1	Single nucleotide variant (intron variant)	Myofibrillar myopathy 8 +1 more	GBenign
Select item 1253388	NM_024854.5(PYROXD1):c.84+40C>A	PYROXD1	Single nucleotide variant (intron variant)	Myofibrillar myopathy 8 +1 more	GBenign
Select item 1252658	NM_024854.5(PYROXD1):c.*49A>G	PYROXD1	Single nucleotide variant (3 prime UTR variant)	Myofibrillar myopathy 8 +1 more	GBenign
Select item 1237631	NM_024854.5(PYROXD1):c.881-39A>G	PYROXD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1183477	NM_024854.5(PYROXD1):c.994-10T>C	PYROXD1	Single nucleotide variant (intron variant)	Myofibrillar myopathy 8 +1 more	GBenign
Select item 1182978	NM_024854.5(PYROXD1):c.650-38T>C	PYROXD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1031411	NM_024854.5(PYROXD1):c.617T>C (p.Ile206Thr)	PYROXD1 (I135T +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 8	GUncertain significance
Select item 1028346	NM_024854.5(PYROXD1):c.343G>A (p.Gly115Arg)	PYROXD1 (G44R +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 8	GUncertain significance
Select item 634627	NM_024854.5(PYROXD1):c.1004_1006del (p.Gly335del)	PYROXD1 (G335del +2 more)	Deletion (inframe_deletion)	Myofibrillar myopathy 8	GUncertain significance
Select item 372282	NM_024854.5(PYROXD1):c.1160_1163dup (p.Lys388fs)	PYROXD1 (K129fs +2 more)	Duplication (frameshift variant)	Myofibrillar myopathy 8	GPathogenic
Select item 372281	NM_024854.5(PYROXD1):c.414+1G>A	PYROXD1	Single nucleotide variant (splice donor variant)	Myofibrillar myopathy 8	GPathogenic
Select item 372280	NM_024854.5(PYROXD1):c.464A>G (p.Asn155Ser)	PYROXD1 (N155S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 372279	NM_024854.5(PYROXD1):c.1116G>C (p.Gln372His)	PYROXD1 (Q372H +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 372278	NM_024854.5(PYROXD1):c.285+1G>A	PYROXD1	Single nucleotide variant (splice donor variant)	Myofibrillar myopathy 8 +1 more	GPathogenic/Likely pathogenic

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Items: 22