Related gene-specific medical variations for Gene (Select 6477) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3162050	NM_003031.4(SIAH1):c.205C>G (p.Leu69Val)	LONP2, SIAH1 (L69V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3162049	NM_003031.4(SIAH1):c.35G>A (p.Gly12Asp)	LONP2, SIAH1 (G12D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3026675	NM_003031.4(SIAH1):c.529G>C (p.Asp177His)	LONP2, SIAH1 (D177H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2672635	NM_003031.4(SIAH1):c.717T>G (p.Thr239=)	LONP2, SIAH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646500	NM_003031.4(SIAH1):c.108G>A (p.Ala36=)	LONP2, SIAH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646499	NM_003031.4(SIAH1):c.569T>C (p.Met190Thr)	LONP2, SIAH1 (M190T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2580622	NM_003031.4(SIAH1):c.233C>T (p.Pro78Leu)	LONP2, SIAH1 (P109L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2580574	NM_003031.4(SIAH1):c.70dup (p.Ala24fs)	LONP2, SIAH1 (A24fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2576102	NM_003031.4(SIAH1):c.63G>T (p.Arg21Ser)	LONP2, SIAH1 (R21S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2314990	NM_003031.4(SIAH1):c.49C>G (p.Pro17Ala)	LONP2, SIAH1 (P17A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1712919	NM_003031.4(SIAH1):c.698G>A (p.Arg233Gln)	LONP2, SIAH1 (R233Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1712904	NM_003031.4(SIAH1):c.226C>T (p.Arg76Trp)	LONP2, SIAH1 (R107W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1711958	NM_003031.4(SIAH1):c.455A>G (p.His152Arg)	LONP2, SIAH1 (H152R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
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 1318575	NM_003031.4(SIAH1):c.23C>T (p.Ala8Val)	LONP2, SIAH1 (A39V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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)	SIAH1, LONP2 (T168A +1 more)	Single nucleotide variant (missense variant +1 more)	Buratti-Harel syndrome	GPathogenic
Select item 779016	NM_003031.4(SIAH1):c.150G>A (p.Pro50=)	LONP2, SIAH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 773056	NM_003031.4(SIAH1):c.813C>T (p.Gly271=)	LONP2, SIAH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 743019	NM_003031.4(SIAH1):c.654T>A (p.Ala218=)	LONP2, SIAH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 737239	NM_003031.4(SIAH1):c.564C>T (p.His188=)	LONP2, SIAH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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Links from Gene

Items: 27