ClinVar for MedGen (Select 324478) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 813292	NM_001376.5(DYNC1H1):c.3347T>C (p.Val1116Ala)	DYNC1H1 (V1116A)	Single nucleotide variant (missense variant)	Lower limb muscle weakness	GLikely pathogenic
Select item 694635	NM_006984.5(CLDN10):c.431C>T (p.Thr144Met)	CLDN10 (T123M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 523389	NM_001009944.3(PKD1):c.7567GAG[1] (p.Glu2524del)	PKD1 (E2524del)	Microsatellite (inframe_deletion)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 523265	GRCh37/hg19 17q12(chr17:34611352-36248918)	DDX52, DHRS11 +16 more	Copy number gain	Lower limb muscle weakness +2 more	GPathogenic
Select item 424764	NM_213599.2(ANO5):c.[155A>G];[191dupA]			Miyoshi muscular dystrophy 3 +1 more	GLikely pathogenic
Select item 374170	NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg)	IGHMBP2 (G61R)	Single nucleotide variant (missense variant)	Progressive muscle weakness +6 more	GConflicting classifications of pathogenicity
Select item 374169	NM_002180.3(IGHMBP2):c.958C>T (p.Arg320Ter)	IGHMBP2 (R320*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +6 more	GPathogenic/Likely pathogenic
Select item 373953	NM_005022.4(PFN1):c.341T>G (p.Met114Arg)	PFN1 (M114R)	Single nucleotide variant (3 prime UTR variant +1 more)	Lower limb muscle weakness	GLikely pathogenic
Select item 268037	46;XY;t(2;14)(p22;q24.3)dn		Translocation	Hypotonia +11 more	GLikely pathogenic
Select item 202529	NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)	TTN, TTN-AS1 (Q34238* +5 more)	Single nucleotide variant (nonsense)	Early-onset myopathy with fatal cardiomyopathy +14 more	GConflicting classifications of pathogenicity
Select item 199044	NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)	GBA1, LOC106627981 (E365K +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset +13 more	GBenign/Likely benign; risk factor
Select item 4299	NM_001005741.2(GBA1):c.[535G>C;c.1093G>A]	GBA1, LOC106627981 (E365K +5 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GPathogenic
Select item 2164	NM_213599.3(ANO5):c.191dup (p.Asn64fs)	ANO5 (N63fs +1 more)	Duplication (frameshift variant)	Lower limb muscle weakness +12 more	GPathogenic/Likely pathogenic