ClinVar for Gene (Select 842) - ClinVar

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Links from Gene

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263461	NM_001229.5(CASP9):c.884G>C (p.Gly295Ala)	CASP9 (G212A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263460	NM_001229.5(CASP9):c.1147C>T (p.Leu383Phe)	CASP9 (L300F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263459	NM_001229.5(CASP9):c.544G>A (p.Gly182Ser)	CASP9 (G182S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3137666	NM_001229.5(CASP9):c.869A>G (p.Glu290Gly)	CASP9 (E290G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137665	NM_001229.5(CASP9):c.682G>T (p.Asp228Tyr)	CASP9 (D145Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137664	NM_001229.5(CASP9):c.556G>C (p.Asp186His)	CASP9 (D103H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137663	NM_001229.5(CASP9):c.466A>G (p.Ser156Gly)	CASP9 (S156G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137661	NM_001229.5(CASP9):c.1187T>A (p.Ile396Asn)	CASP9 (I396N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137660	NM_001229.5(CASP9):c.117G>A (p.Met39Ile)	CASP9 (M39I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137659	NM_001229.5(CASP9):c.1053T>G (p.Phe351Leu)	CASP9 (F201L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062911	GRCh37/hg19 1p36.21(chr1:13922015-16013972)x1	AGMAT, CASP9 +13 more	Copy number loss	not specified	GUncertain significance
Select item 3060608	NM_001229.5(CASP9):c.453+8T>C	CASP9	Single nucleotide variant (intron variant)	CASP9-related disorder	GBenign
Select item 3059411	NM_001229.5(CASP9):c.93C>T (p.Ser31=)	CASP9	Single nucleotide variant (synonymous variant +2 more)	CASP9-related disorder	GBenign
Select item 3059116	NM_001229.5(CASP9):c.662A>G (p.Gln221Arg)	CASP9 (Q138R +1 more)	Single nucleotide variant (missense variant +2 more)	CASP9-related disorder	GBenign
Select item 3058888	NM_001229.5(CASP9):c.408T>C (p.Phe136=)	CASP9	Single nucleotide variant (synonymous variant +1 more)	CASP9-related disorder	GBenign
Select item 3057686	NM_001229.5(CASP9):c.327G>A (p.Val109=)	CASP9	Single nucleotide variant (synonymous variant +1 more)	CASP9-related disorder	GLikely benign
Select item 3053478	NM_001229.5(CASP9):c.721-5T>C	CASP9	Single nucleotide variant (intron variant)	CASP9-related disorder	GBenign
Select item 3052276	NM_001229.5(CASP9):c.24C>T (p.Leu8=)	CASP9	Single nucleotide variant (synonymous variant +2 more)	CASP9-related disorder	GBenign
Select item 3050328	NM_001229.5(CASP9):c.130C>G (p.Gln44Glu)	CASP9 (Q44E)	Single nucleotide variant (missense variant +2 more)	CASP9-related disorder	GBenign
Select item 3048458	NM_001229.5(CASP9):c.660G>A (p.Ala220=)	CASP9	Single nucleotide variant (synonymous variant +2 more)	CASP9-related disorder	GLikely benign
Select item 3043218	NM_001229.5(CASP9):c.1152G>C (p.Leu384=)	CASP9	Single nucleotide variant (synonymous variant +1 more)	CASP9-related disorder	GLikely benign
Select item 3042052	NM_001229.5(CASP9):c.305C>T (p.Thr102Ile)	CASP9 (T102I +1 more)	Single nucleotide variant (missense variant +1 more)	CASP9-related disorder	GBenign
Select item 3041435	NM_001229.5(CASP9):c.518G>A (p.Arg173His)	CASP9 (R173H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3034388	NM_001229.5(CASP9):c.469A>G (p.Met157Val)	CASP9 (M157V +1 more)	Single nucleotide variant (missense variant +2 more)	CASP9-related disorder	GLikely benign
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638292	NM_001229.5(CASP9):c.711C>T (p.His237=)	CASP9	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2592219	NM_001229.5(CASP9):c.823C>A (p.Leu275Met)	CASP9 (L192M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2540333	NM_001229.5(CASP9):c.117G>T (p.Met39Ile)	CASP9 (M39I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2535936	NM_001229.5(CASP9):c.154C>T (p.Arg52Trp)	CASP9 (R52W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2525909	NM_001229.5(CASP9):c.409G>A (p.Gly137Ser)	CASP9 (G54S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2516696	NM_001229.5(CASP9):c.269G>A (p.Arg90Gln)	CASP9 (R90Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488300	NM_001229.5(CASP9):c.335G>A (p.Arg112Lys)	CASP9 (R112K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479650	NM_001229.5(CASP9):c.1223G>A (p.Arg408Gln)	CASP9 (R258Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472216	NM_001229.5(CASP9):c.1022T>C (p.Ile341Thr)	CASP9 (I191T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469343	NM_001229.5(CASP9):c.401G>C (p.Gly134Ala)	CASP9 (G134A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465564	NM_001229.5(CASP9):c.320C>T (p.Thr107Ile)	CASP9 (T107I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461008	NM_001229.5(CASP9):c.262T>A (p.Phe88Ile)	CASP9 (F5I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2341541	NM_001229.5(CASP9):c.805G>A (p.Gly269Arg)	CASP9 (G269R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2322288	NM_001229.5(CASP9):c.391A>G (p.Ile131Val)	CASP9 (I131V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312361	NM_001229.5(CASP9):c.1200G>T (p.Met400Ile)	CASP9 (M317I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2308950	NM_001229.5(CASP9):c.560G>A (p.Cys187Tyr)	CASP9 (C104Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2308169	NM_001229.5(CASP9):c.920C>A (p.Ser307Tyr)	CASP9 (S157Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296200	NM_001229.5(CASP9):c.1142A>G (p.Gln381Arg)	CASP9 (Q231R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274499	NM_001229.5(CASP9):c.16C>T (p.Arg6Trp)	CASP9, LOC129929488 (R6W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2263887	NM_001229.5(CASP9):c.1197G>T (p.Gln399His)	CASP9 (Q249H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238424	NM_001229.5(CASP9):c.1231C>A (p.Leu411Ile)	CASP9 (L261I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207691	NM_001229.5(CASP9):c.26T>C (p.Leu9Pro)	CASP9 (L9P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2205075	NM_001229.5(CASP9):c.971G>A (p.Arg324Lys)	CASP9 (R174K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 1275295	NM_001229.5(CASP9):c.83C>T (p.Ala28Val)	CASP9 (A28V)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 795880	NM_001229.5(CASP9):c.546C>T (p.Gly182=)	CASP9	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 782360	NM_001229.5(CASP9):c.1097C>A (p.Thr366Asn)	CASP9 (T366N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 777920	NM_001229.5(CASP9):c.720+9C>T	CASP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 727713	NM_001229.5(CASP9):c.525C>T (p.Ser175=)	CASP9	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 709532	NM_001229.5(CASP9):c.316C>G (p.Leu106Val)	CASP9 (L106V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584380	NC_000001.10:g.(?_15764961)_(16063358_?)del	AGMAT, CASP9 +8 more	Deletion	Hereditary pancreatitis	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	AADACL3, AADACL4 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 148652	GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)x1	AADACL3, AGMAT +151 more	Copy number loss	See cases	GPathogenic
Select item 146292	GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1	AGMAT, ARHGEF19 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 80