ClinVar for Gene (Select 6477) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 47

	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 2446117	NM_003031.4(SIAH1):c.-2-2971C>G	SIAH1 (T26R)	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 2211409	NM_003031.4(SIAH1):c.-2-3004dup	SIAH1 (V16fs)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	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 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 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
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 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
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
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	AGRP, AHSP +590 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 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	KCTD13, KCTD19 +810 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
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	LINC02128, LINC02133 +209 more	Copy number gain	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 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	ABCC11, ABCC12 +209 more	Copy number loss	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 47