ClinVar for Gene (Select 10207) - ClinVar

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Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3024715	NM_001350145.3(PATJ):c.1007C>A (p.Pro336His)	PATJ (P336H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2638858	NM_001350145.3(PATJ):c.3198G>A (p.Pro1066=)	PATJ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638857	NM_001350145.3(PATJ):c.2145G>T (p.Val715=)	PATJ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2626879	NM_001350145.3(PATJ):c.1850G>T (p.Arg617Leu)	PATJ (R617L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579168	GRCh38/hg38 1p31.3(chr1:61077177-62865614)x1	LOC111501769, LOC121725026 +43 more	Copy number loss	Brain malformations with or without urinary tract defects	GPathogenic
Select item 2425382	NC_000001.10:g.(?_61548464)_(67861772_?)del	AK4, ALG6 +32 more	Deletion	not provided	GPathogenic
Select item 2404717	NM_001350145.3(PATJ):c.1909C>T (p.Arg637Trp)	PATJ (R637W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388566	NM_001350145.3(PATJ):c.4702G>A (p.Ala1568Thr)	PATJ (A1568T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384153	NM_001350145.3(PATJ):c.4687G>A (p.Val1563Met)	PATJ (V1563M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383381	NM_001350145.3(PATJ):c.4571G>A (p.Arg1524Gln)	PATJ (R1524Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373236	NM_001350145.3(PATJ):c.3595A>G (p.Met1199Val)	PATJ (M1199V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371137	NM_001350145.3(PATJ):c.1499A>G (p.Glu500Gly)	PATJ (E500G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362881	NM_001350145.3(PATJ):c.2170G>A (p.Val724Ile)	PATJ (V724I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361006	NM_001350145.3(PATJ):c.3900C>G (p.His1300Gln)	PATJ (H1300Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353647	NM_001350145.3(PATJ):c.1405A>G (p.Thr469Ala)	PATJ (T469A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353368	NM_001350145.3(PATJ):c.4455A>G (p.Ile1485Met)	PATJ (I1485M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261633	NM_001350145.3(PATJ):c.3442G>T (p.Ala1148Ser)	PATJ (A1148S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256596	NM_001350145.3(PATJ):c.400T>C (p.Tyr134His)	PATJ (Y134H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255665	NM_001350145.3(PATJ):c.5045A>C (p.Glu1682Ala)	PATJ (E1682A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251380	NM_001350145.3(PATJ):c.3496A>G (p.Ile1166Val)	PATJ (I1166V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249194	NM_001350145.3(PATJ):c.3875A>G (p.Asn1292Ser)	PATJ (N1292S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238810	NM_001350145.3(PATJ):c.2977G>A (p.Val993Ile)	PATJ (V993I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233069	NM_001350145.3(PATJ):c.2945C>G (p.Thr982Ser)	PATJ (T982S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1809331	GRCh37/hg19 1p31.3(chr1:62253991-62598777)x1	PATJ	Copy number loss	not provided	GUncertain significance
Select item 1809175	GRCh37/hg19 1p31.3(chr1:61699735-62380298)x3	NFIA, PATJ +1 more	Copy number gain	not provided	GUncertain significance
Select item 1340929	GRCh37/hg19 1p31.3(chr1:62575113-62857160)x3	KANK4, L1TD1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1330902	NM_001350145.3(PATJ):c.4546G>T (p.Val1516Leu)	PATJ (V1516L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330683	NM_001350145.3(PATJ):c.5137G>A (p.Gly1713Arg)	PATJ (G1713R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	JUN, KANK4 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 814088	GRCh37/hg19 1p31.3(chr1:62580200-62878074)x3	L1TD1, KANK4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814087	GRCh37/hg19 1p31.3(chr1:62253990-62598778)x1	PATJ	Copy number loss	not provided	GUncertain significance
Select item 787747	NM_001350145.3(PATJ):c.3926C>T (p.Thr1309Ile)	PATJ (T1309I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783287	NM_001350145.3(PATJ):c.1025T>C (p.Leu342Ser)	PATJ (L342S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 779063	NM_001350145.3(PATJ):c.2664G>A (p.Leu888=)	PATJ	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775555	NM_001350145.3(PATJ):c.5082A>G (p.Gly1694=)	PATJ	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775554	NM_001350145.3(PATJ):c.2523A>G (p.Gln841=)	PATJ	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775553	NM_176877.5(PATJ):c.849+9A>G	PATJ	Single nucleotide variant	not provided	GBenign
Select item 775135	NM_176877.5(PATJ):c.4243+7T>C	PATJ	Single nucleotide variant	not provided	GBenign
Select item 775134	NM_001350145.3(PATJ):c.2404G>C (p.Asp802His)	PATJ (D802H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 738512	NM_001350145.3(PATJ):c.4494C>T (p.His1498=)	PATJ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734302	NM_001350145.3(PATJ):c.5190T>A (p.Ile1730=)	PATJ	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 666427	Single allele	ITGB3BP, JAK1 +53 more	Deletion	Intellectual disability, severe	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	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)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +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
Select item 221683	GRCh38/hg38 1p31.3(chr1:61747150-61956770)x1	LOC122056898, MIR12132 +1 more	Copy number loss	Premature ovarian failure	GUncertain significance
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	LOC129930559, LOC129930560 +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 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC129930848, LOC129930849 +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 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	AK4, ALG6 +270 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	LOC126805749, LOC126805750 +331 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	AK4, ALG6 +339 more	Copy number loss	See cases	GPathogenic
Select item 59359	GRCh38/hg38 1p31.3(chr1:61836641-62038677)x1	LOC122056898, MIR12132 +1 more	Copy number loss	See cases	GUncertain significance
Select item 59358	GRCh38/hg38 1p32.1-31.3(chr1:59871038-62029355)x1	C1orf87, CYP2J2 +32 more	Copy number loss	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 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	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 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	AK4, ALG6 +253 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 68