12607[HGNC] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	DEPDC1, DEPDC1-AS1 +270 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	LOC122094841, LOC122094842 +253 more	Copy number loss	See cases	GPathogenic
Select item 2579168	GRCh38/hg38 1p31.3(chr1:61077177-62865614)x1	ANGPTL3, ATG4C +43 more	Copy number loss	Brain malformations with or without urinary tract defects	GPathogenic
Select item 57304	GRCh38/hg38 1p31.3(chr1:61258246-63189366)x3	ANGPTL3, ATG4C +44 more	Copy number gain	See cases	GUncertain significance
Select item 58081	GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3	AK4, ALG6 +129 more	Copy number gain	See cases	GPathogenic
Select item 2347272	NM_003368.5(USP1):c.175C>A (p.Gln59Lys)	USP1 (Q59K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593889	NM_003368.5(USP1):c.226A>G (p.Asn76Asp)	USP1 (N76D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331304	NM_003368.5(USP1):c.310G>A (p.Gly104Ser)	USP1 (G104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508409	NM_003368.5(USP1):c.416C>T (p.Ser139Phe)	USP1 (S139F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595669	NM_003368.5(USP1):c.442A>G (p.Ser148Gly)	USP1 (S148G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351403	NM_003368.5(USP1):c.506A>G (p.Lys169Arg)	USP1 (K169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187113	NM_003368.5(USP1):c.716C>T (p.Pro239Leu)	USP1 (P239L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382671	NM_003368.5(USP1):c.736A>G (p.Ile246Val)	USP1 (I246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187114	NM_003368.5(USP1):c.761T>G (p.Met254Arg)	USP1 (M254R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480941	NM_003368.5(USP1):c.785A>C (p.Glu262Ala)	USP1 (E262A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232651	NM_003368.5(USP1):c.859T>C (p.Ser287Pro)	USP1 (S287P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208288	NM_003368.5(USP1):c.968C>T (p.Ser323Phe)	USP1 (S323F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237469	NM_003368.5(USP1):c.985A>G (p.Arg329Gly)	USP1 (R329G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454680	NM_003368.5(USP1):c.994C>A (p.Gln332Lys)	USP1 (Q332K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492777	NM_003368.5(USP1):c.1015A>G (p.Ile339Val)	USP1 (I339V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389146	NM_003368.5(USP1):c.1046C>T (p.Pro349Leu)	USP1 (P349L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714071	NM_003368.5(USP1):c.1050C>T (p.Ser350=)	USP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3187109	NM_003368.5(USP1):c.1060A>G (p.Lys354Glu)	USP1 (K354E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343182	NM_003368.5(USP1):c.1092C>G (p.Asn364Lys)	USP1 (N364K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208246	NM_003368.5(USP1):c.1094A>G (p.Gln365Arg)	USP1 (Q365R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233175	NM_003368.5(USP1):c.1095A>C (p.Gln365His)	USP1 (Q365H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347360	NM_003368.5(USP1):c.1130A>T (p.Asp377Val)	USP1 (D377V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333424	NM_003368.5(USP1):c.1168A>G (p.Thr390Ala)	USP1 (T390A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301643	NM_003368.5(USP1):c.1183G>A (p.Gly395Arg)	USP1 (G395R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322334	NM_003368.5(USP1):c.1186C>A (p.Leu396Ile)	USP1 (L396I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187110	NM_003368.5(USP1):c.1190A>C (p.Glu397Ala)	USP1 (E397A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331303	NM_003368.5(USP1):c.1223T>A (p.Val408Asp)	USP1 (V408D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187111	NM_003368.5(USP1):c.1258C>G (p.Gln420Glu)	USP1 (Q420E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306284	NM_003368.5(USP1):c.1393C>G (p.Leu465Val)	USP1 (L465V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331307	NM_003368.5(USP1):c.1553G>A (p.Ser518Asn)	USP1 (S518N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540164	NM_003368.5(USP1):c.1807C>T (p.Leu603Phe)	USP1 (L603F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331309	NM_003368.5(USP1):c.1897A>G (p.Arg633Gly)	USP1 (R633G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374262	NM_003368.5(USP1):c.1936A>G (p.Ile646Val)	USP1 (I646V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 441005	NM_003368.5(USP1):c.1985del (p.Asn662fs)	USP1 (N662fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 2364396	NM_003368.5(USP1):c.1988T>C (p.Val663Ala)	USP1 (V663A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638861	NM_003368.5(USP1):c.1996A>G (p.Ile666Val)	USP1 (I666V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 724320	NM_003368.5(USP1):c.2016A>G (p.Gln672=)	USP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2488612	NM_003368.5(USP1):c.2045A>G (p.Asn682Ser)	USP1 (N682S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331306	NM_003368.5(USP1):c.2053T>G (p.Ser685Ala)	USP1 (S685A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187112	NM_003368.5(USP1):c.2059C>T (p.Pro687Ser)	USP1 (P687S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331302	NM_003368.5(USP1):c.2078C>T (p.Thr693Ile)	USP1 (T693I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398224	NM_003368.5(USP1):c.2081C>T (p.Ala694Val)	USP1 (A694V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331305	NM_003368.5(USP1):c.2117C>G (p.Thr706Ser)	USP1 (T706S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331308	NM_003368.5(USP1):c.2129A>G (p.His710Arg)	USP1 (H710R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241455	NM_003368.5(USP1):c.2209G>A (p.Val737Met)	USP1 (V737M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301396	NM_003368.5(USP1):c.2290C>G (p.Leu764Val)	USP1 (L764V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595720	NM_003368.5(USP1):c.2311A>C (p.Thr771Pro)	USP1 (T771P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247793	NC_000001.10:g.(?_61548464)_(67861772_?)dup	AK4, ALG6 +32 more	Duplication	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 3062689	GRCh37/hg19 1p32.1-31.3(chr1:60641326-65216639)x1	ALG6, ANGPTL3 +16 more	Copy number loss	not specified	GPathogenic
Select item 2425382	NC_000001.10:g.(?_61548464)_(67861772_?)del	AK4, ALG6 +32 more	Deletion	not provided	GPathogenic
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	L1TD1, LDLRAD1 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 666427	Single allele	ROR1, RPE65 +53 more	Deletion	Intellectual disability, severe	GPathogenic
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 565104	GRCh37/hg19 1p31.3(chr1:62830524-65396403)x1	CACHD1, ANGPTL3 +12 more	Copy number loss	not provided	GUncertain significance
Select item 565103	GRCh37/hg19 1p31.3(chr1:62468555-65584629)x3	KANK4, EFCAB7 +16 more	Copy number gain	not provided	GUncertain significance
Select item 565102	GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3	AK4, ALG6 +46 more	Copy number gain	not provided	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 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic

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Items: 71