54675[geneid] - ClinVar

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Items: 57

	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 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 2214630	NM_019095.6(CRLS1):c.4C>A (p.Leu2Ile)	CRLS1 (L2I)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2226795	NM_019095.6(CRLS1):c.41T>G (p.Leu14Arg)	CRLS1 (L14R)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 727712	NM_019095.6(CRLS1):c.54T>G (p.Ala18=)	CRLS1	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2226039	NM_019095.6(CRLS1):c.62C>T (p.Pro21Leu)	CRLS1 (P21L)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2227102	NM_019095.6(CRLS1):c.65G>A (p.Gly22Glu)	CRLS1 (G22E)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3269559	NM_019095.6(CRLS1):c.74C>G (p.Pro25Arg)	CRLS1 (P25R)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2269462	NM_019095.6(CRLS1):c.85C>A (p.Arg29Ser)	CRLS1 (R29S)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2388012	NM_019095.6(CRLS1):c.238G>A (p.Ala80Thr)	CRLS1 (A80T)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2533704	NM_019095.6(CRLS1):c.239C>T (p.Ala80Val)	CRLS1 (A80V)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2484411	NM_019095.6(CRLS1):c.266C>T (p.Ala89Val)	CRLS1 (A89V)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3269558	NM_019095.6(CRLS1):c.269C>G (p.Pro90Arg)	CRLS1 (P90R)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GLikely benign
Select item 3077533	NM_019095.6(CRLS1):c.278A>G (p.Gln93Arg)	CRLS1 (Q93R)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GLikely benign
Select item 2324521	NM_019095.6(CRLS1):c.292A>T (p.Ser98Cys)	CRLS1 (S98C)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2443703	NM_019095.6(CRLS1):c.326T>A (p.Ile109Asn)	CRLS1 (I109N +1 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency 57	GPathogenic
Select item 3077535	NM_019095.6(CRLS1):c.329C>T (p.Pro110Leu)	CRLS1 (P11L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2513650	NM_019095.6(CRLS1):c.464G>A (p.Arg155Gln)	CRLS1 (R44Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2443704	NM_019095.6(CRLS1):c.515C>A (p.Ala172Asp)	CRLS1 (A172D +2 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 57	GPathogenic
Select item 2458468	NM_019095.6(CRLS1):c.626T>C (p.Val209Ala)	CRLS1 (V110A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443705	NM_019095.6(CRLS1):c.649C>T (p.Leu217Phe)	CRLS1 (L217F +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 57	GPathogenic
Select item 3077536	NM_019095.6(CRLS1):c.718T>C (p.Phe240Leu)	CRLS1 (F129L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570408	NM_019095.6(CRLS1):c.788A>G (p.Asn263Ser)	CRLS1 (N152S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077537	NM_019095.6(CRLS1):c.827T>G (p.Phe276Cys)	CRLS1 (F276C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279168	NM_019095.6(CRLS1):c.859A>G (p.Ser287Gly)	CRLS1 (S287G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787574	NM_019095.6(CRLS1):c.867T>C (p.Tyr289=)	CRLS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2519809	NM_019095.6(CRLS1):c.869A>T (p.His290Leu)	CRLS1 (H179L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3338444	GRCh37/hg19 20p12.3-12.1(chr20:5454270-13610745)x1	ANKEF1, BMP2 +22 more	Copy number loss	Congenital myasthenic syndrome 18	GLikely pathogenic
Select item 3248273	NC_000020.10:g.(?_3190198)_(6760201_?)del	DNAAF9, FERMT1 +35 more	Deletion	Inosine triphosphatase deficiency	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TMEM74B, TMX4 +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 2427039	NC_000020.10:g.(?_5896972)_(6012016_?)del	CHGB, CRLS1 +2 more	Deletion	not provided	GPathogenic
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	CDS2, CENPB +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 1808794	GRCh37/hg19 20p12.3(chr20:6013642-6128223)x1	CRLS1, FERMT1 +1 more	Copy number loss	not provided	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 831757	NC_000020.10:g.(?_6015110)_(6759736_?)del	LRRN4, FERMT1 +2 more	Deletion	not provided	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 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

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Items: 57