ClinVar for MedGen (Select 155541) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683801	NM_031157.4(HNRNPA1):c.1113_*2delinsTAA (p.Arg371_Ter373delinsSerXaa)	HNRNPA1	Indel (stop lost +1 more)	Distal myopathy	GLikely pathogenic
Select item 584450	NM_014365.3(HSPB8):c.520_533del (p.Tyr174fs)	HSPB8 (Y174fs)	Deletion (frameshift variant)	Distal myopathy +1 more	GLikely pathogenic
Select item 369449	NM_199189.2(MATR3):c.-784G>A	LOC129994754, MATR3	Single nucleotide variant	Distal myopathy	GLikely benign
Select item 351177	NM_018834.6(MATR3):c.1810_1812del	MATR3	Deletion (3 prime UTR variant)	Distal myopathy	GLikely benign
Select item 351148	NM_018834.6(MATR3):c.*175AT[1]	MATR3	Microsatellite (3 prime UTR variant)	Distal myopathy	GUncertain significance
Select item 351146	NM_018834.6(MATR3):c.86_89del	MATR3	Deletion (3 prime UTR variant)	Distal myopathy	GLikely benign
Select item 351139	NM_018834.6(MATR3):c.2493+7_2493+9del	MATR3	Deletion (intron variant)	Distal myopathy	GUncertain significance
Select item 351117	NM_018834.6(MATR3):c.-103dup	MATR3	Duplication (5 prime UTR variant +1 more)	Distal myopathy +1 more	GBenign
Select item 55857	NM_001003800.2(BICD2):c.320C>T (p.Ser107Leu)	BICD2 (S107L)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +2 more	GPathogenic

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