8729[HGNC] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 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 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	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 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 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 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 148627	GRCh38/hg38 20p13-12.3(chr20:4343033-6911730)x1	BMP2, CASC20 +101 more	Copy number loss	See cases	GPathogenic
Select item 150823	GRCh38/hg38 20p13-12.3(chr20:4926195-5543771)x3	CDS2, LINC00654 +34 more	Copy number gain	See cases	GUncertain significance
Select item 58966	GRCh38/hg38 20p13-12.3(chr20:5030412-5435054)x3	CDS2, LINC00658 +20 more	Copy number gain	See cases	GUncertain significance
Select item 148787	GRCh38/hg38 20p13-12.3(chr20:5039774-5645855)x3	CDS2, GPCPD1 +30 more	Copy number gain	See cases	GUncertain significance
Select item 711223	NM_182649.2(PCNA):c.726G>A (p.Ala242=)	PCNA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786675	NM_182649.2(PCNA):c.702C>G (p.Pro234=)	PCNA	Single nucleotide variant (synonymous variant)	PCNA-related disorder +1 more	GBenign
Select item 143043	NM_182649.2(PCNA):c.683G>T (p.Ser228Ile)	PCNA (S228I)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 2	GUncertain significance
Select item 749190	NM_182649.2(PCNA):c.645T>C (p.Phe215=)	PCNA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 753900	NM_182649.2(PCNA):c.612A>G (p.Gln204=)	PCNA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615523	NM_182649.2(PCNA):c.546G>T (p.Leu182Phe)	PCNA (L182F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607639	NM_182649.2(PCNA):c.545T>G (p.Leu182Trp)	PCNA (L182W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 803596	NM_182649.2(PCNA):c.443G>C (p.Cys148Ser)	PCNA (C148S)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 2	GLikely pathogenic
Select item 799150	NM_182649.2(PCNA):c.261C>A (p.Ile87=)	PCNA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 799192	NM_182649.2(PCNA):c.235C>T (p.Leu79=)	PCNA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3060300	NM_182649.2(PCNA):c.222-4C>T	PCNA	Single nucleotide variant (intron variant)	PCNA-related disorder	GBenign
Select item 2218728	NM_182649.2(PCNA):c.166G>A (p.Gly56Ser)	PCNA, PCNA-AS1 (G56S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3305196	NM_182649.2(PCNA):c.125C>T (p.Ser42Leu)	PCNA, PCNA-AS1 (S42L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 792921	NM_182649.2(PCNA):c.42G>A (p.Lys14=)	PCNA, PCNA-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 748972	NM_182649.2(PCNA):c.33C>T (p.Ile11=)	PCNA, PCNA-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3248273	NC_000020.10:g.(?_3190198)_(6760201_?)del	ADAM33, ADISSP +35 more	Deletion	Inosine triphosphatase deficiency	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	RAD21L1, RALGAPA2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	SIRPB2, SIRPD +114 more	Copy number gain	not provided	GPathogenic
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2446383	GRCh37/hg19 20p13-12.3(chr20:3034557-5524417)x1	MAVS, OXT +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 2423462	NC_000020.10:g.(?_5086814)_(5295015_?)dup	CDS2, PCNA +3 more	Duplication	not provided	GUncertain significance
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	ADAM33, ADISSP +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 1703638	GRCh37/hg19 20p13-12.2(chr20:3178539-11848383)	ADAM33, ADRA1D +47 more	Copy number loss	20p12.3 microdeletion syndrome	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 564645	GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1	FERMT1, SPTLC3 +62 more	Copy number loss	not provided	GPathogenic
Select item 443885	GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1	ADAM33, ADISSP +58 more	Copy number loss	See cases	GPathogenic
Select item 443774	GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3	ADAM33, ADISSP +104 more	Copy number gain	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 443248	GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3	ADAM33, ADISSP +80 more	Copy number gain	See cases	GUncertain significance
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 394208	GRCh37/hg19 20p13-12.1(chr20:4392930-12667768)x1	ANKEF1, BMP2 +28 more	Copy number loss	See cases	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 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 51