ClinVar for MedGen (Select 1841222) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2506442	NM_004483.5(GCSH):c.344C>T (p.Pro115Leu)	GCSH (P115L)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 7	GPathogenic
Select item 2506441	NM_004483.5(GCSH):c.293-60_*72dup	GCSH	Duplication (splice acceptor variant +1 more)	Multiple mitochondrial dysfunctions syndrome 7	GPathogenic
Select item 2506440	NG_016427.1:g.(5246_10695)_(10776_13711)del	GCSH	Deletion	Multiple mitochondrial dysfunctions syndrome 7	GPathogenic
Select item 2506439	NM_004483.5(GCSH):c.170A>G (p.His57Arg)	GCSH (H57R)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 7	GPathogenic
Select item 2506436	NM_004483.5(GCSH):c.293-2_293-1insT	GCSH	Insertion (splice acceptor variant)	Multiple mitochondrial dysfunctions syndrome 7	GPathogenic
Select item 265685	NM_004483.5(GCSH):c.1A>G (p.Met1Val)	GCSH, LOC130059495 (M1V)	Single nucleotide variant (missense variant +2 more)	GCSH-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 265683	NM_004483.5(GCSH):c.226C>T (p.Gln76Ter)	GCSH (Q76*)	Single nucleotide variant (nonsense +1 more)	GCSH-related disorder +2 more	GPathogenic/Likely pathogenic

ClinVar