SIAH1[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 148231	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 148087	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52355793)x3	ABCC11, ABCC12 +209 more	Copy number gain	See cases	GPathogenic
Select item 59468	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1	ABCC11, ABCC12 +202 more	Copy number loss	See cases	GPathogenic
Select item 59467	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1	ABCC11, ABCC12 +204 more	Copy number loss	See cases	GPathogenic
Select item 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	ABCC11, ABCC12 +209 more	Copy number loss	See cases	GPathogenic
Select item 59487	GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 773056	NM_003031.4(SIAH1):c.813C>T (p.Gly271=)	SIAH1, LONP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 743019	NM_003031.4(SIAH1):c.654T>A (p.Ala218=)	LONP2, SIAH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 737239	NM_003031.4(SIAH1):c.564C>T (p.His188=)	LONP2, SIAH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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
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 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 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 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 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 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 779016	NM_003031.4(SIAH1):c.150G>A (p.Pro50=)	LONP2, SIAH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 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 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 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 2435926	NM_003031.4(SIAH1):c.-2-2954A>G	SIAH1	Single nucleotide variant (intron variant)	Buratti-Harel syndrome	GUncertain significance
Select item 2446117	NM_003031.4(SIAH1):c.-2-2971C>G	SIAH1 (T26R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2211409	NM_003031.4(SIAH1):c.-2-3004dup	SIAH1 (V16fs)	Duplication (frameshift 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 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442863	GRCh37/hg19 16q11.2-12.1(chr16:46737110-51838691)x1	ABCC11, ABCC12 +23 more	Copy number loss	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance

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Items: 48