12936[HGNC] - ClinVar

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 148652	GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)x1	AADACL3, AGMAT +151 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 146292	GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1	AGMAT, ARHGEF19 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 more	Copy number loss	See cases	GPathogenic
Select item 1238751	NM_003443.3(ZBTB17):c.*21TTTA[1]	ZBTB17	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 3191923	NM_003443.3(ZBTB17):c.2381C>T (p.Thr794Ile)	ZBTB17 (T731I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333855	NM_003443.3(ZBTB17):c.2329C>T (p.Arg777Cys)	ZBTB17 (R777C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191922	NM_003443.3(ZBTB17):c.2254G>A (p.Asp752Asn)	LOC126805632, ZBTB17 (D676N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057327	NM_003443.3(ZBTB17):c.2232G>A (p.Leu744=)	LOC126805632, ZBTB17	Single nucleotide variant (synonymous variant)	ZBTB17-related disorder	GLikely benign
Select item 2482584	NM_003443.3(ZBTB17):c.2222C>T (p.Ala741Val)	LOC126805632, ZBTB17 (A678V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191921	NM_003443.3(ZBTB17):c.2210G>A (p.Arg737Gln)	LOC126805632, ZBTB17 (R655Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249984	NM_003443.3(ZBTB17):c.2135A>G (p.Asn712Ser)	LOC126805632, ZBTB17 (N630S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1272499	NM_003443.3(ZBTB17):c.2129-37G>A	LOC126805632, ZBTB17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3042922	NM_003443.3(ZBTB17):c.2128+9G>A	LOC126805632, ZBTB17	Single nucleotide variant (intron variant)	ZBTB17-related disorder	GLikely benign
Select item 3191920	NM_003443.3(ZBTB17):c.2083C>G (p.Leu695Val)	LOC126805632, ZBTB17 (L695V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356825	NM_003443.3(ZBTB17):c.2030A>G (p.Gln677Arg)	LOC126805632, ZBTB17 (Q601R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767000	NM_003443.3(ZBTB17):c.2022C>G (p.Ala674=)	LOC126805632, ZBTB17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2281480	NM_003443.3(ZBTB17):c.1872C>A (p.Asn624Lys)	LOC126805632, ZBTB17 (N542K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1183759	NM_003443.3(ZBTB17):c.1828+76dup	LOC126805632, ZBTB17	Duplication (intron variant)	not provided	GBenign
Select item 2508090	NM_003443.3(ZBTB17):c.1702G>A (p.Val568Ile)	LOC126805632, ZBTB17 (V486I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1286770	NM_003443.3(ZBTB17):c.1698-48G>A	LOC126805632, ZBTB17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2483821	NM_003443.3(ZBTB17):c.1660G>A (p.Gly554Arg)	ZBTB17 (G472R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333856	NM_003443.3(ZBTB17):c.1654C>T (p.His552Tyr)	ZBTB17 (H470Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191919	NM_003443.3(ZBTB17):c.1645G>A (p.Val549Met)	ZBTB17 (V467M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288100	NM_003443.3(ZBTB17):c.1625C>T (p.Ala542Val)	ZBTB17 (A466V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480883	NM_003443.3(ZBTB17):c.1597G>C (p.Val533Leu)	ZBTB17 (V470L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056701	NM_003443.3(ZBTB17):c.1372-4A>G	ZBTB17	Single nucleotide variant (intron variant)	ZBTB17-related disorder	GLikely benign
Select item 1262168	NM_003443.3(ZBTB17):c.1371+112_1371+127del	ZBTB17	Deletion (intron variant)	not provided	GBenign
Select item 2310288	NM_003443.3(ZBTB17):c.1328A>G (p.Asp443Gly)	ZBTB17 (D361G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237601	NM_003443.3(ZBTB17):c.1166G>A (p.Arg389His)	ZBTB17 (R307H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1258996	NM_003443.3(ZBTB17):c.1070+36G>T	ZBTB17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239718	NM_003443.3(ZBTB17):c.1070+25C>T	ZBTB17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283106	NM_003443.3(ZBTB17):c.1070+12A>G	ZBTB17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2613859	NM_003443.3(ZBTB17):c.1013A>G (p.Glu338Gly)	ZBTB17 (E262G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1280656	NM_003443.3(ZBTB17):c.1002C>T (p.Phe334=)	ZBTB17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2338807	NM_003443.3(ZBTB17):c.817G>A (p.Gly273Ser)	ZBTB17 (G210S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3191928	NM_003443.3(ZBTB17):c.763T>C (p.Ser255Pro)	ZBTB17 (S173P +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 978749	NM_003443.3(ZBTB17):c.709CAAGAGGAG[3] (p.237QEE[3])	ZBTB17	Microsatellite (inframe_insertion)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 2354466	NM_003443.3(ZBTB17):c.631G>A (p.Glu211Lys)	ZBTB17 (E129K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045479	NM_003443.3(ZBTB17):c.624A>G (p.Ala208=)	ZBTB17	Single nucleotide variant (synonymous variant)	ZBTB17-related disorder	GLikely benign
Select item 1264129	NM_003443.3(ZBTB17):c.621T>C (p.Ala207=)	ZBTB17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2281967	NM_003443.3(ZBTB17):c.578C>T (p.Pro193Leu)	ZBTB17 (P117L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467618	NM_003443.3(ZBTB17):c.563C>T (p.Ala188Val)	ZBTB17 (A112V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1235384	NM_003443.3(ZBTB17):c.536-74G>A	ZBTB17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2310117	NM_003443.3(ZBTB17):c.511G>A (p.Gly171Ser)	ZBTB17 (G108S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191927	NM_003443.3(ZBTB17):c.508G>A (p.Gly170Ser)	ZBTB17 (G94S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037326	NM_003443.3(ZBTB17):c.507C>T (p.Arg169=)	ZBTB17	Single nucleotide variant (synonymous variant)	ZBTB17-related disorder	GLikely benign
Select item 3191926	NM_003443.3(ZBTB17):c.506G>A (p.Arg169His)	ZBTB17 (R106H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598490	NM_003443.3(ZBTB17):c.505C>T (p.Arg169Cys)	ZBTB17 (R106C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191925	NM_003443.3(ZBTB17):c.499G>C (p.Glu167Gln)	ZBTB17 (E167Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292316	NM_003443.3(ZBTB17):c.490G>A (p.Asp164Asn)	ZBTB17 (D82N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034197	NM_003443.3(ZBTB17):c.432C>T (p.Thr144=)	ZBTB17	Single nucleotide variant (synonymous variant)	ZBTB17-related disorder	GLikely benign
Select item 2300569	NM_003443.3(ZBTB17):c.417G>C (p.Glu139Asp)	ZBTB17 (E63D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569712	NM_003443.3(ZBTB17):c.404A>G (p.Lys135Arg)	ZBTB17 (K135R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038404	NM_003443.3(ZBTB17):c.395-17C>T	ZBTB17	Single nucleotide variant (synonymous variant +1 more)	ZBTB17-related disorder	GBenign
Select item 3046963	NM_003443.3(ZBTB17):c.395-30A>G	ZBTB17	Single nucleotide variant (intron variant)	ZBTB17-related disorder	GLikely benign
Select item 1247614	NM_003443.3(ZBTB17):c.395-144T>G	ZBTB17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2393022	NM_003443.3(ZBTB17):c.335A>T (p.Lys112Met)	ZBTB17 (K36M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191924	NM_003443.3(ZBTB17):c.300A>C (p.Gln100His)	ZBTB17 (Q24H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333857	NM_003443.3(ZBTB17):c.274G>A (p.Val92Met)	ZBTB17 (M2I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1253257	NM_003443.3(ZBTB17):c.205+17G>A	ZBTB17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3191918	NM_003443.3(ZBTB17):c.160G>A (p.Val54Met)	ZBTB17 (V54M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3333854	NM_003443.3(ZBTB17):c.25C>T (p.His9Tyr)	ZBTB17 (H9Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191917	NM_003443.3(ZBTB17):c.10C>A (p.Pro4Thr)	ZBTB17 (P4T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1287630	NM_003443.3(ZBTB17):c.-2-60G>A	LOC129929508, ZBTB17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2426034	NC_000001.10:g.(?_16096904)_(16271697_?)del	FBLIM1, SPEN +1 more	Deletion	not provided	GPathogenic
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 980392	GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	EMC1, EPHA2 +73 more	Copy number loss	not provided	GPathogenic
Select item 686997	GRCh37/hg19 1p36.21-36.13(chr1:16096742-16725355)x1	ARHGEF19, CLCNKA +12 more	Copy number loss	not provided	GUncertain significance
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 565077	GRCh37/hg19 1p36.13(chr1:16217579-16496902)x3	HSPB7, ZBTB17 +6 more	Copy number gain	not provided	GUncertain significance
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 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	AADACL3, AADACL4 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 90