ClinVar for Gene (Select 9917) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 2610193	NM_014864.4(FAM20B):c.233C>T (p.Pro78Leu)	FAM20B (P78L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601460	NM_014864.4(FAM20B):c.265C>T (p.His89Tyr)	FAM20B (H89Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588887	NM_014864.4(FAM20B):c.392A>G (p.His131Arg)	FAM20B (H131R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496556	NM_014864.4(FAM20B):c.682G>T (p.Val228Leu)	FAM20B (V228L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483733	NM_014864.4(FAM20B):c.301G>A (p.Val101Met)	FAM20B (V101M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476414	NM_014864.4(FAM20B):c.509T>C (p.Val170Ala)	FAM20B (V170A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393844	NM_014864.4(FAM20B):c.1171G>A (p.Asp391Asn)	FAM20B (D391N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391703	NM_014864.4(FAM20B):c.118G>A (p.Ala40Thr)	FAM20B (A40T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359095	NM_014864.4(FAM20B):c.104G>A (p.Arg35Gln)	FAM20B (R35Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303690	NM_014864.4(FAM20B):c.878A>G (p.Tyr293Cys)	FAM20B (Y293C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293449	NM_014864.4(FAM20B):c.497T>C (p.Val166Ala)	FAM20B (V166A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224661	NM_014864.4(FAM20B):c.838G>C (p.Val280Leu)	FAM20B (V280L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 979311	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not provided	GPathogenic
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 599187	NC_000001.10:g.172652343_183538289del10885947	ANKRD45, ASTN1 +61 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 565201	GRCh37/hg19 1q25.2(chr1:178892713-179557557)x3	NPHS2, ABL2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
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 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	NIBAN1, NMNAT2 +83 more	Copy number loss	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	ABL2, ACBD6 +147 more	Copy number loss	See cases	GPathogenic
Select item 253471	GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1	ABL2, ACBD6 +46 more	Copy number loss	See cases	GPathogenic
Select item 226132	GRCh37/hg19 1q25.2-25.3(chr1:178806664-181082264)	TOR3A, TOR1AIP1 +19 more	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	LOC122149328, LOC122149329 +540 more	Copy number loss	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	IER5, IVNS1ABP +560 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ACBD6, ANGPTL1 +513 more	Copy number gain	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	LOC126805952, LOC126805953 +455 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 38