C0700153[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523555	NM_130837.3(OPA1):c.679-4G>T	OPA1, OPA1-AS1	Single nucleotide variant (intron variant)	Osteoporosis +3 more	GUncertain significance
Select item 209138	NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)	CLCN1 (F167L)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 17539	NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)	CLCN1 (I290M)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +4 more	GPathogenic
Select item 523317	NM_000083.3(CLCN1):c.1027T>C (p.Phe343Leu)	CLCN1 (F343L)	Single nucleotide variant (missense variant +1 more)	Myotonia +3 more	GConflicting classifications of pathogenicity
Select item 523318	NM_000083.3(CLCN1):c.1662_1663dup (p.His555fs)	CLCN1 (H555fs)	Duplication (frameshift variant +1 more)	Lumbar hyperlordosis +4 more	GLikely pathogenic
Select item 374131	NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter)	CLCN1, FAM131B (Q879*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal recessive form +3 more	GPathogenic
Select item 374058	NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr)	SCN4A, GH-LCR (A699T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 373945	NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu)	SCN4A (V445L)	Single nucleotide variant (missense variant)	Muscle weakness +6 more	GConflicting classifications of pathogenicity
Select item 373917	NM_000540.3(RYR1):c.3202T>C (p.Cys1068Arg)	RYR1 (C1068R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GUncertain significance