ClinVar for Gene (Select 283807) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2624028	NM_203373.3(FBXL22):c.694A>G (p.Thr232Ala)	FBXL22 (T232A)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551787	NM_001367807.1(FBXL22):c.206C>G (p.Pro69Arg)	FBXL22, USP3-AS1 (P69R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482271	NM_001367807.1(FBXL22):c.163C>A (p.Arg55Ser)	FBXL22, USP3-AS1 (R55S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424797	NC_000015.9:g.(?_62146656)_(64747263_?)del	FBXL22, TLN2 +20 more	Deletion	not provided	GPathogenic
Select item 2396773	NM_203373.3(FBXL22):c.479G>T (p.Arg160Leu)	FBXL22 (R160L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350157	NM_001367807.1(FBXL22):c.281G>A (p.Ser94Asn)	USP3-AS1, FBXL22 (S94N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332144	NM_203373.3(FBXL22):c.652A>G (p.Arg218Gly)	FBXL22 (R218G)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308901	NM_203373.3(FBXL22):c.496G>A (p.Ala166Thr)	FBXL22 (A166T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301284	NM_001367807.1(FBXL22):c.167C>T (p.Ser56Phe)	USP3-AS1, FBXL22 (S56F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294659	NM_203373.3(FBXL22):c.614C>T (p.Ser205Leu)	FBXL22 (S205L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268565	NM_001367807.1(FBXL22):c.251A>G (p.Gln84Arg)	USP3-AS1, FBXL22 (Q84R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263076	NM_203373.3(FBXL22):c.562G>C (p.Ala188Pro)	FBXL22 (A188P)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229638	NM_001367807.1(FBXL22):c.313G>C (p.Glu105Gln)	USP3-AS1, FBXL22 (E105Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204106	NM_001367807.1(FBXL22):c.215G>A (p.Arg72His)	USP3-AS1, FBXL22 (R72H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 833184	NC_000015.10:g.(?_63042820)_(63869153_?)dup	APH1B, CA12 +8 more	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 718672	NM_203373.3(FBXL22):c.739C>T (p.Gln247Ter)	FBXL22 (Q247*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 560063	Single allele	ANKDD1A, APH1B +40 more	Deletion	Nemaline myopathy 6	GLikely pathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 25