C0018784[trait identifier] AND "Reproductive Development, Murdoch Chil - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 869201	NM_004837.4(GGPS1):c.269A>G (p.Asn90Ser)	GGPS1 (N36S +1 more)	Single nucleotide variant (missense variant)	Myopathy +1 more	GUncertain significance
Select item 869200	NM_004837.4(GGPS1):c.782G>A (p.Arg261His)	GGPS1 (R207H +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome +3 more	GConflicting classifications of pathogenicity
Select item 553552	NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp)	PEX6 (R786W +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 869197	NM_000287.4(PEX6):c.371T>C (p.Leu124Pro)	PEX6 (L124P)	Single nucleotide variant (missense variant +1 more)	Cognitive impairment +5 more	GPathogenic
Select item 869198	NM_052963.3(TOP1MT):c.1115G>C (p.Arg372Pro)	TOP1MT (R274P +1 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +1 more	GUncertain significance
Select item 869199	NM_003201.3(TFAM):c.694C>T (p.Arg232Cys)	TFAM (R200C +1 more)	Single nucleotide variant (missense variant +1 more)	Sensorineural hearing loss disorder +1 more	GUncertain significance
Select item 1706435	NM_015971.4(MRPS7):c.373A>T (p.Lys125Ter)	MRPS7 (K125*)	Single nucleotide variant (nonsense)	Sensorineural hearing loss disorder +1 more	GLikely pathogenic
Select item 1349478	NM_015971.4(MRPS7):c.536G>A (p.Arg179His)	MRPS7 (R179H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity