"GeneDx"[submitter] AND "LONP2"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59468	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1	ABCC11, ABCC12 +203 more	Copy number loss	See cases	GPathogenic
Select item 59467	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1	C16orf78, HNRNPA1L3 +205 more	Copy number loss	See cases	GPathogenic
Select item 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	LOC130058939, LOC130058940 +210 more	Copy number loss	See cases	GPathogenic
Select item 59487	GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1	ABCC11, ABCC12 +211 more	Copy number loss	See cases	GPathogenic
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 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 3353888	NM_003031.4(SIAH1):c.329C>T (p.Pro110Leu)	LONP2, SIAH1 (P110L +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 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 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 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