ClinVar for MedGen (Select 934601) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256916	NM_016011.5(MECR):c.406G>A (p.Gly136Arg)	MECR (G136R +4 more)	Single nucleotide variant (missense variant +1 more)	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	GUncertain significance
Select item 3251976	NM_016011.5(MECR):c.534C>G (p.Phe178Leu)	MECR (F102L +4 more)	Single nucleotide variant (missense variant +1 more)	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities +1 more	GUncertain significance
Select item 2067908	NM_016011.5(MECR):c.583G>A (p.Gly195Arg)	MECR (G195R +4 more)	Single nucleotide variant (missense variant +1 more)	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities +1 more	GUncertain significance
Select item 1321161	NM_016011.5(MECR):c.176+19G>A	MECR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1257057	NM_016011.5(MECR):c.286T>C (p.Phe96Leu)	MECR (F124L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1251778	NM_016011.5(MECR):c.597A>G (p.Ala199=)	MECR	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1173961	NM_016011.5(MECR):c.910G>T (p.Asp304Tyr)	MECR (D304Y +4 more)	Single nucleotide variant (missense variant +1 more)	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	GPathogenic
Select item 1029421	NM_016011.5(MECR):c.161C>T (p.Pro54Leu)	MECR (P54L +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	GUncertain significance
Select item 807442	NC_000001.11:g.29203234del	MECR	Deletion	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	GPathogenic
Select item 522856	NM_016011.4(MECR):c.-39G>C	MECR	Single nucleotide variant	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	GUncertain significance
Select item 489272	NM_016011.5(MECR):c.965-11A>G	MECR	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 449055	NM_016011.5(MECR):c.830+2dup	MECR	Duplication (non-coding transcript variant +1 more)	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities +2 more	GPathogenic/Likely pathogenic
Select item 374883	NM_016011.5(MECR):c.247_250del (p.Asn83fs)	MECR (N111fs +4 more)	Deletion (frameshift variant +1 more)	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities +1 more	GPathogenic
Select item 374882	NM_016011.4(MECR):c.772C>T (p.Arg258Trp)	MECR (R258W +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 374881	NM_016011.5(MECR):c.854A>G (p.Tyr285Cys)	MECR (Y285C +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood Onset Dystonias +2 more	GPathogenic/Likely pathogenic
Select item 374879	NM_016011.5(MECR):c.855T>G (p.Tyr285Ter)	MECR (Y285* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 374878	NM_016011.5(MECR):c.695G>A (p.Gly232Glu)	MECR (G232E +4 more)	Single nucleotide variant (missense variant +1 more)	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities +2 more	GPathogenic/Likely pathogenic