Related gene-specific medical variations for Gene (Select 72) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362480	NM_001615.4(ACTG2):c.104T>C (p.Ile35Thr)	ACTG2 (I35T)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5	GUncertain significance
Select item 3242289	GRCh37/hg19 2p13.1(chr2:74115998-74122821)x1	ACTG2	Copy number loss	not provided	GUncertain significance
Select item 3065144	NM_001615.4(ACTG2):c.1007G>A (p.Arg336Gln)	ACTG2 (R293Q +1 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5	GLikely pathogenic
Select item 3062129	NM_001615.4(ACTG2):c.28G>A (p.Val10Met)	ACTG2 (V10M)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GLikely pathogenic
Select item 2438844	NM_001615.4(ACTG2):c.616G>A (p.Glu206Lys)	ACTG2 (E163K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438843	NM_001615.4(ACTG2):c.348C>G (p.Asn116Lys)	ACTG2 (N116K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1047916	NM_001615.4(ACTG2):c.968C>T (p.Pro323Leu)	ACTG2 (P280L +1 more)	Single nucleotide variant (missense variant)	Chronic intestinal pseudoobstruction	GLikely pathogenic
Select item 872896	NM_001615.4(ACTG2):c.589_613+163del	ACTG2	Deletion (splice donor variant)	Visceral myopathy 1	GLikely pathogenic
Select item 591920	NM_001615.4(ACTG2):c.183C>G (p.Ser61Arg)	ACTG2 (S61R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 156554	NM_001615.4(ACTG2):c.806_807delinsAA (p.Gly269Glu)	ACTG2 (G269E +1 more)	Indel (missense variant)	Visceral myopathy 1	GPathogenic