2475[HGNC] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 59196	GRCh38/hg38 20p11.22-q11.1(chr20:22061586-30285812)x3	ABHD12, ACSS1 +174 more	Copy number gain	See cases	GPathogenic
Select item 144320	GRCh38/hg38 20p11.21(chr20:23455996-24050737)x3	CST1, CST2 +16 more	Copy number gain	See cases	GUncertain significance
Select item 1670876	NM_000099.4(CST3):c.424A>G (p.Thr142Ala)	CST3 (T142A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 728906	NM_000099.4(CST3):c.417G>A (p.Ser139=)	CST3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2672877	NM_000099.4(CST3):c.376C>T (p.Gln126Ter)	CST3 (Q126*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2602746	NM_000099.4(CST3):c.362C>T (p.Ala121Val)	CST3 (A121V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1904796	NM_000099.4(CST3):c.361G>C (p.Ala121Pro)	CST3 (A121P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578451	NM_000099.4(CST3):c.360del (p.Ala121fs)	CST3 (A121fs)	Deletion (frameshift variant)	CST3-related Leukodystrophy	GUncertain significance
Select item 1712339	NM_000099.4(CST3):c.357+1del	CST3	Deletion (splice donor variant)	CST3-related Leukodystrophy	GUncertain significance
Select item 2652242	NM_000099.4(CST3):c.342del (p.Gln114fs)	CST3 (Q114fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 809236	NM_000099.4(CST3):c.340C>T (p.Gln114Ter)	CST3 (Q114*)	Single nucleotide variant (nonsense)	CST3-related Leukodystrophy +2 more	GUncertain significance
Select item 2959634	NM_000099.4(CST3):c.335A>G (p.His112Arg)	CST3 (H112R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2210184	NM_000099.4(CST3):c.290C>T (p.Thr97Ile)	CST3 (T97I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389735	NM_000099.4(CST3):c.287G>A (p.Arg96Gln)	CST3 (R96Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2889605	NM_000099.4(CST3):c.282G>A (p.Leu94=)	CST3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 5634	NM_000099.4(CST3):c.281T>A (p.Leu94Gln)	CST3 (L94Q)	Single nucleotide variant (missense variant)	Hereditary cerebral amyloid angiopathy, Icelandic type	GPathogenic
Select item 2977182	NM_000099.4(CST3):c.267C>G (p.Phe89Leu)	CST3 (F89L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1540973	NM_000099.4(CST3):c.243+17G>T	CST3, LOC130065546	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1668603	NM_000099.4(CST3):c.243+11C>T	CST3, LOC130065546	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 719121	NM_000099.4(CST3):c.235C>A (p.Arg79Ser)	CST3, LOC130065546 (R79S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2213756	NM_000099.4(CST3):c.223G>A (p.Val75Met)	CST3, LOC130065546 (V75M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337079	NM_000099.4(CST3):c.214G>T (p.Ala72Ser)	CST3, LOC130065546 (A72S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2440591	NM_000099.4(CST3):c.212G>A (p.Arg71His)	CST3, LOC130065546 (R71H)	Single nucleotide variant (missense variant)	Hereditary cerebral amyloid angiopathy, Icelandic type	GUncertain significance
Select item 3067942	NM_000099.4(CST3):c.196_198del (p.Asp66del)	CST3, LOC130065546 (D66del)	Deletion (inframe_deletion)	Hereditary cerebral amyloid angiopathy, Icelandic type	GUncertain significance
Select item 2273713	NM_000099.4(CST3):c.185A>G (p.Lys62Arg)	CST3, LOC130065546 (K62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560521	NM_000099.4(CST3):c.184A>C (p.Lys62Gln)	CST3, LOC130065546 (K62Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2915642	NM_000099.4(CST3):c.168C>T (p.Ala56=)	CST3, LOC130065546	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1598954	NM_000099.4(CST3):c.159G>A (p.Leu53=)	CST3, LOC130065546	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1565371	NM_000099.4(CST3):c.138G>A (p.Glu46=)	CST3, LOC130065546	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3078407	NM_000099.4(CST3):c.118A>C (p.Met40Leu)	CST3 (M40L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1599561	NM_000099.4(CST3):c.105A>G (p.Leu35=)	CST3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777537	NM_000099.4(CST3):c.105= (p.Leu35=)	CST3	Variation (no sequence alteration)	not provided	GBenign
Select item 2973082	NM_000099.4(CST3):c.102C>A (p.Arg34=)	CST3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714896	NM_000099.4(CST3):c.88G>A (p.Gly30Ser)	CST3, LOC130065547 (G30S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 5635	NM_000099.4(CST3):c.73G>A (p.Ala25Thr)	CST3, LOC130065547 (A25T)	Single nucleotide variant (missense variant)	Hereditary cerebral amyloid angiopathy, Icelandic type +3 more	GBenign
Select item 756159	NM_000099.4(CST3):c.63G>A (p.Val21=)	CST3, LOC130065547	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2300236	NM_000099.4(CST3):c.47C>G (p.Ala16Gly)	CST3, LOC130065547 (A16G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746510	NM_000099.4(CST3):c.33G>C (p.Leu11=)	CST3, LOC130065547	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721474	NM_000099.4(CST3):c.18C>T (p.Arg6=)	CST3, LOC130065547	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1622251	NM_000099.4(CST3):c.12C>T (p.Pro4=)	CST3, LOC130065547	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 402569	NM_000099.4(CST3):c.-72A>C	LOC130065547, CST3	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068495	NC_000020.10:g.20158646_24080787del	CD93, CFAP61 +24 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	PTPRA, RAD21L1 +164 more	Copy number gain	not provided	GPathogenic
Select item 1809075	GRCh37/hg19 20p11.21(chr20:23142478-24824349)x3	CST1, CST11 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 979562	GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3	CST9, ACSS1 +57 more	Copy number gain	not provided	GLikely pathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 560101	Single allele	HCK, HM13 +89 more	Duplication	not provided	GPathogenic
Select item 548966	GRCh37/hg19 20p11.22-11.21(chr20:21680345-24383453)x1	CD93, CST1 +17 more	Copy number loss	See cases	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442830	GRCh37/hg19 20p11.23-11.1(chr20:18500917-25847320)x1	ABHD12, ACSS1 +44 more	Copy number loss	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic

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Items: 62