ClinVar for MedGen (Select 296125) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1526399	NM_001615.4(ACTG2):c.439G>C (p.Gly147Arg)	ACTG2 (G104R +1 more)	Single nucleotide variant (missense variant)	Megacystis, microcolon, hypoperistalsis syndrome	GLikely pathogenic
Select item 1252066	NM_002474.3(MYH11):c.1033+1G>A	MYH11	Single nucleotide variant (splice donor variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2	GPathogenic
Select item 664610	NM_053025.4(MYLK):c.1690G>A (p.Gly564Ser)	MYLK (G388S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 264987	NM_053025.4(MYLK):c.3838_3844dup (p.Glu1282fs)	MYLK (E1213fs +2 more)	Duplication (frameshift variant)	Visceral myopathy 1 +1 more	GPathogenic
Select item 226764	NM_053025.4(MYLK):c.3558C>T (p.Thr1186=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7 +4 more	GBenign
Select item 226757	NM_053025.4(MYLK):c.1804+8C>T	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7 +3 more	GBenign
Select item 226755	NM_053025.4(MYLK):c.1486C>G (p.Leu496Val)	MYLK (L496V +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 7 +4 more	GBenign
Select item 226753	NM_053025.4(MYLK):c.1005C>T (p.Thr335=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7 +4 more	GBenign
Select item 198606	NM_053025.4(MYLK):c.439C>T (p.Pro147Ser)	MYLK (P147S)	Single nucleotide variant (5 prime UTR variant +1 more)	Megacystis, microcolon, hypoperistalsis syndrome +4 more	GBenign
Select item 194903	NM_053025.4(MYLK):c.3402C>T (p.Asn1134=)	MYLK	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign
Select item 156401	NM_002474.3(MYH11):c.3598A>T (p.Lys1200Ter)	MYH11 (K1200* +1 more)	Single nucleotide variant (nonsense)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 132801	NM_001615.4(ACTG2):c.533G>A (p.Arg178His)	ACTG2 (R178H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 132800	NM_001615.4(ACTG2):c.532C>T (p.Arg178Cys)	ACTG2 (R178C +1 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 +3 more	GPathogenic
Select item 132798	NM_001615.4(ACTG2):c.533G>T (p.Arg178Leu)	ACTG2 (R178L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic