ClinVar for MedGen (Select 1785391) - ClinVar

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

Links from MedGen

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3024243	NM_001615.4(ACTG2):c.532C>A (p.Arg178Ser)	ACTG2 (R135S +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1 +1 more	GPathogenic
Select item 1804921	NM_001615.4(ACTG2):c.632G>T (p.Arg211Leu)	ACTG2 (R168L +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GPathogenic
Select item 1339551	NM_001615.4(ACTG2):c.590G>C (p.Arg197Thr)	ACTG2 (R154T +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GLikely pathogenic
Select item 1333874	NM_001615.4(ACTG2):c.178C>G (p.Gln60Glu)	ACTG2 (Q60E)	Single nucleotide variant (missense variant +1 more)	Visceral myopathy 1	GUncertain significance
Select item 1188998	NM_001615.4(ACTG2):c.-36-12G>C	ACTG2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1188857	NM_001615.4(ACTG2):c.256-3T>C	ACTG2	Single nucleotide variant (intron variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 +1 more	GBenign
Select item 1188856	NM_001615.4(ACTG2):c.-6C>T	ACTG2	Single nucleotide variant (5 prime UTR variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 +2 more	GBenign
Select item 1032761	NM_001615.4(ACTG2):c.1031G>C (p.Gly344Ala)	ACTG2 (G301A +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GUncertain significance
Select item 992909	NM_001615.4(ACTG2):c.614C>A (p.Ala205Asp)	ACTG2 (A162D +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GUncertain significance
Select item 973103	NM_001615.4(ACTG2):c.1006C>T (p.Arg336Trp)	ACTG2 (R336W +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GUncertain significance
Select item 973102	NM_001615.4(ACTG2):c.588G>C (p.Glu196Asp)	ACTG2 (E196D +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GLikely pathogenic
Select item 973101	NM_001615.4(ACTG2):c.446C>G (p.Thr149Arg)	ACTG2 (T106R +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GUncertain significance
Select item 973100	NM_001615.4(ACTG2):c.123C>A (p.His41Gln)	ACTG2 (H41Q)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GUncertain significance
Select item 872896	NM_001615.4(ACTG2):c.589_613+163del	ACTG2	Deletion (splice donor variant)	Visceral myopathy 1	GLikely pathogenic
Select item 818205	GRCh37/hg19 20q11.23(chr20:35177459-35178246)x1	MYL9	Copy number loss	Visceral myopathy 1	GUncertain significance
Select item 818204	NM_006097.5(MYL9):c.184+2_184+10del	DLGAP4-AS1, MYL9	Deletion (splice donor variant)	Visceral myopathy 1	GUncertain significance
Select item 807365	NM_001615.4(ACTG2):c.348C>A (p.Asn116Lys)	ACTG2 (N116K +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GLikely pathogenic
Select item 801724	NM_001615.4(ACTG2):c.354A>G (p.Glu118=)	ACTG2	Single nucleotide variant (synonymous variant)	Visceral myopathy 1 +1 more	GBenign
Select item 694318	NM_001615.4(ACTG2):c.255+210C>G	ACTG2	Single nucleotide variant (intron variant)	Visceral myopathy 1	GUncertain significance
Select item 694269	NM_001615.4(ACTG2):c.188G>A (p.Arg63Gln)	ACTG2 (R63Q)	Single nucleotide variant (missense variant +1 more)	Visceral myopathy 1	GPathogenic
Select item 694268	NM_001615.4(ACTG2):c.116C>T (p.Pro39Leu)	ACTG2 (P39L)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GPathogenic
Select item 666312	NM_001615.4(ACTG2):c.337C>G (p.Pro113Ala)	ACTG2 (P70A +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GLikely pathogenic
Select item 617478	NM_002474.3(MYH11):c.379C>T (p.Pro127Ser)	MYH11 (P127S)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GLikely pathogenic
Select item 495146	NM_001615.4(ACTG2):c.67G>A (p.Ala23Thr)	ACTG2 (A23T)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GUncertain significance
Select item 495145	NM_001615.4(ACTG2):c.632G>A (p.Arg211Gln)	ACTG2 (R211Q +1 more)	Single nucleotide variant (missense variant)	ACTG2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 437907	NC_000020.11:g.36548744_36555707del	DLGAP4-AS1, MYL9	Deletion	Visceral myopathy 1	GLikely pathogenic
Select item 427851	NM_053025.4(MYLK):c.3985+5G>T	MYLK	Single nucleotide variant (intron variant)	Visceral myopathy 1	GPathogenic
Select item 379697	NM_001615.4(ACTG2):c.584C>T (p.Thr195Ile)	ACTG2 (T195I +1 more)	Single nucleotide variant (missense variant)	ACTG2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 369682	NM_001615.4(ACTG2):c.613G>A (p.Ala205Thr)	ACTG2 (A205T +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GPathogenic
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 264986	NM_012134.3(LMOD1):c.1108C>T (p.Arg370Ter)	LMOD1 (R370*)	Single nucleotide variant (nonsense)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 +1 more	GPathogenic
Select item 218312	NM_001615.4(ACTG2):c.593G>A (p.Gly198Asp)	ACTG2 (G198D +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GPathogenic
Select item 218311	NM_001615.4(ACTG2):c.255+210C>A	ACTG2	Single nucleotide variant (intron variant)	Visceral myopathy 1	GPathogenic
Select item 218310	NM_001615.4(ACTG2):c.187C>G (p.Arg63Gly)	ACTG2 (R63G)	Single nucleotide variant (missense variant +1 more)	Visceral myopathy 1	GPathogenic
Select item 218309	NM_001615.4(ACTG2):c.134T>C (p.Met45Thr)	ACTG2 (M45T)	Single nucleotide variant (missense variant +1 more)	Visceral myopathy 1	GPathogenic
Select item 208792	NM_001615.4(ACTG2):c.770G>A (p.Arg257His)	ACTG2 (R257H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 180620	NM_001615.4(ACTG2):c.443G>T (p.Arg148Leu)	ACTG2 (R148L +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GPathogenic/Likely pathogenic
Select item 156554	NM_001615.4(ACTG2):c.806_807delinsAA (p.Gly269Glu)	ACTG2 (G269E +1 more)	Indel (missense variant)	Visceral myopathy 1	GPathogenic
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 132805	NM_001615.4(ACTG2):c.400T>A (p.Tyr134Asn)	ACTG2 (Y134N +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GPathogenic
Select item 132803	NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys)	ACTG2 (R257C +1 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 +4 more	GPathogenic
Select item 132802	NM_001615.4(ACTG2):c.119G>A (p.Arg40His)	ACTG2 (R40H)	Single nucleotide variant (missense variant)	Visceral myopathy 1 +3 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)	ACTG2-related condition +3 more	GPathogenic
Select item 132799	NM_001615.4(ACTG2):c.118C>T (p.Arg40Cys)	ACTG2 (R40C)	Single nucleotide variant (missense variant)	ACTG2-related condition +2 more	GPathogenic/Likely pathogenic
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
Select item 132797	NM_001615.4(ACTG2):c.442C>A (p.Arg148Ser)	ACTG2 (R148S +1 more)	Single nucleotide variant (missense variant)	Chronic intestinal pseudoobstruction +1 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 48