ClinVar for MedGen (Select 1788293) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359032	NM_003031.4(SIAH1):c.15_16insA (p.Ala6fs)	LONP2, SIAH1 (A37fs +1 more)	Insertion (frameshift variant +1 more)	Buratti-Harel syndrome	GLikely pathogenic
Select item 3235937	NM_003031.4(SIAH1):c.361dup (p.Cys121fs)	LONP2, SIAH1 (C121fs +1 more)	Duplication (frameshift variant +1 more)	Buratti-Harel syndrome	GLikely pathogenic
Select item 3065090	NM_003031.4(SIAH1):c.-2-3047A>C	SIAH1 (M1L)	Single nucleotide variant (missense variant +2 more)	Buratti-Harel syndrome	GUncertain significance
Select item 2435926	NM_003031.4(SIAH1):c.-2-2954A>G	SIAH1	Single nucleotide variant (intron variant)	Buratti-Harel syndrome	GUncertain significance
Select item 2431721	NM_003031.4(SIAH1):c.520G>A (p.Gly174Ser)	LONP2, SIAH1 (G174S +1 more)	Single nucleotide variant (missense variant +1 more)	Buratti-Harel syndrome	GUncertain significance
Select item 1685439	NM_003031.4(SIAH1):c.484G>A (p.Asp162Asn)	LONP2, SIAH1 (D162N +1 more)	Single nucleotide variant (missense variant +1 more)	Buratti-Harel syndrome	GLikely pathogenic
Select item 1082508	NM_003031.4(SIAH1):c.149C>T (p.Pro50Leu)	LONP2, SIAH1 (P50L +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1082507	NM_003031.4(SIAH1):c.520G>C (p.Gly174Arg)	LONP2, SIAH1 (G174R +1 more)	Single nucleotide variant (missense variant +1 more)	Buratti-Harel syndrome	GPathogenic
Select item 1082506	NM_003031.4(SIAH1):c.121T>G (p.Cys41Gly)	LONP2, SIAH1 (C41G +1 more)	Single nucleotide variant (missense variant +1 more)	Buratti-Harel syndrome	GPathogenic
Select item 1082505	NM_003031.4(SIAH1):c.383G>T (p.Cys128Phe)	LONP2, SIAH1 (C128F +1 more)	Single nucleotide variant (missense variant +1 more)	Buratti-Harel syndrome	GPathogenic
Select item 1082503	NM_003031.4(SIAH1):c.502A>G (p.Thr168Ala)	LONP2, SIAH1 (T168A +1 more)	Single nucleotide variant (missense variant +1 more)	Buratti-Harel syndrome	GPathogenic