"Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Ch - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664268	NM_001615.4(ACTG2):c.359T>C (p.Met120Thr)	ACTG2 (M120T +1 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5	GUncertain significance
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 1177291	NM_001615.4(ACTG2):c.442C>T (p.Arg148Cys)	ACTG2 (R105C +1 more)	Single nucleotide variant (missense variant)	Intestinal obstruction	GLikely pathogenic
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 132803	NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys)	ACTG2 (R257C +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1 +4 more	GPathogenic
Select item 1339480	NM_001615.4(ACTG2):c.981G>T (p.Lys327Asn)	ACTG2 (K284N +1 more)	Single nucleotide variant (missense variant)	Intestinal pseudo-obstruction	GUncertain significance
Select item 2664269	NM_001615.4(ACTG2):c.985A>C (p.Lys329Gln)	ACTG2 (K286Q +1 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic