23569[Gene ID] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 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 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
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 590889	NC_000001.11:g.17157671G>T	PADI4	Single nucleotide variant	Rheumatoid arthritis	Gassociation
Select item 777323	NM_012387.3(PADI4):c.23G>A (p.Arg8His)	PADI4 (R8H)	Single nucleotide variant (missense variant)	PADI4-related disorder +1 more	GBenign
Select item 2376244	NM_012387.3(PADI4):c.47A>G (p.His16Arg)	PADI4 (H16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207979	NM_012387.3(PADI4):c.52G>A (p.Val18Met)	PADI4 (V18M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455787	NM_012387.3(PADI4):c.148G>A (p.Val50Met)	PADI4 (V50M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 972892	NM_012387.3(PADI4):c.163G>A (p.Gly55Ser)	PADI4 (G55S)	Single nucleotide variant (missense variant)	PADI4-related disorder	GBenign
Select item 2408873	NM_012387.3(PADI4):c.220G>T (p.Val74Leu)	PADI4 (V74L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 711266	NM_012387.3(PADI4):c.221T>C (p.Val74Ala)	PADI4 (V74A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3048532	NM_012387.3(PADI4):c.236C>G (p.Thr79Arg)	PADI4 (T79R)	Single nucleotide variant (missense variant)	PADI4-related disorder	GBenign
Select item 780217	NM_012387.3(PADI4):c.236C>T (p.Thr79Met)	PADI4 (T79M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 972893	NM_012387.3(PADI4):c.245T>C (p.Val82Ala)	PADI4 (V82A)	Single nucleotide variant (missense variant)	PADI4-related disorder	GBenign
Select item 2391645	NM_012387.3(PADI4):c.292G>A (p.Gly98Arg)	PADI4 (G98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366017	NM_012387.3(PADI4):c.310G>A (p.Val104Ile)	PADI4 (V104I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352552	NM_012387.3(PADI4):c.326A>G (p.Tyr109Cys)	PADI4 (Y109C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057496	NM_012387.3(PADI4):c.333C>T (p.Thr111=)	PADI4	Single nucleotide variant (synonymous variant)	PADI4-related disorder	GLikely benign
Select item 972895	NM_012387.3(PADI4):c.335G>C (p.Gly112Ala)	PADI4 (G112A)	Single nucleotide variant (missense variant)	PADI4-related disorder	GBenign
Select item 590790	NM_012387.3(PADI4):c.341-15T>C	PADI4	Single nucleotide variant (intron variant)	Rheumatoid arthritis	Gassociation
Select item 972894	NM_012387.3(PADI4):c.349T>C (p.Leu117=)	PADI4	Single nucleotide variant (synonymous variant)	PADI4-related disorder	GBenign
Select item 2493026	NM_012387.3(PADI4):c.358G>A (p.Asp120Asn)	PADI4 (D120N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410687	NM_012387.3(PADI4):c.371C>A (p.Thr124Asn)	PADI4 (T124N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601273	NM_012387.3(PADI4):c.395C>T (p.Ala132Val)	PADI4 (A132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239495	NM_012387.3(PADI4):c.439G>A (p.Gly147Ser)	PADI4 (G147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057244	NM_012387.3(PADI4):c.456G>T (p.Val152=)	PADI4	Single nucleotide variant (synonymous variant)	PADI4-related disorder	GLikely benign
Select item 3044642	NM_012387.3(PADI4):c.491T>C (p.Met164Thr)	PADI4 (M164T)	Single nucleotide variant (missense variant)	PADI4-related disorder	GBenign
Select item 2358839	NM_012387.3(PADI4):c.492G>A (p.Met164Ile)	PADI4 (M164I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729596	NM_012387.3(PADI4):c.498C>T (p.Cys166=)	PADI4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2351704	NM_012387.3(PADI4):c.560C>T (p.Thr187Met)	PADI4 (T187M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056039	NM_012387.3(PADI4):c.566C>A (p.Thr189Asn)	PADI4 (T189N)	Single nucleotide variant (missense variant)	PADI4-related disorder	GLikely benign
Select item 3044146	NM_012387.3(PADI4):c.607G>A (p.Val203Met)	PADI4 (V203M)	Single nucleotide variant (missense variant)	PADI4-related disorder	GLikely benign
Select item 3207980	NM_012387.3(PADI4):c.691C>A (p.Pro231Thr)	PADI4 (P231T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782905	NM_012387.3(PADI4):c.723C>T (p.Pro241=)	PADI4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3056879	NM_012387.3(PADI4):c.778G>A (p.Asp260Asn)	PADI4 (D260N)	Single nucleotide variant (missense variant)	PADI4-related disorder	GBenign
Select item 2375783	NM_012387.3(PADI4):c.865G>A (p.Val289Met)	PADI4 (V289M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043818	NM_012387.3(PADI4):c.878T>C (p.Val293Ala)	PADI4 (V293A)	Single nucleotide variant (missense variant)	PADI4-related disorder	GBenign
Select item 3042377	NM_012387.3(PADI4):c.882G>A (p.Ala294=)	PADI4	Single nucleotide variant (synonymous variant)	PADI4-related disorder	GLikely benign
Select item 2289624	NM_012387.3(PADI4):c.889A>T (p.Ile297Phe)	PADI4 (I297F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207981	NM_012387.3(PADI4):c.921G>T (p.Glu307Asp)	PADI4 (E307D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774152	NM_012387.3(PADI4):c.926A>G (p.Tyr309Cys)	PADI4 (Y309C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2393848	NM_012387.3(PADI4):c.1022A>C (p.Glu341Ala)	PADI4 (E341A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400241	NM_012387.3(PADI4):c.1029G>T (p.Met343Ile)	PADI4 (M343I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057022	NM_012387.3(PADI4):c.1047+8C>T	PADI4	Single nucleotide variant (intron variant)	PADI4-related disorder	GBenign
Select item 2545991	NM_012387.3(PADI4):c.1139C>G (p.Pro380Arg)	PADI4 (P380R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207972	NM_012387.3(PADI4):c.1148G>A (p.Arg383His)	PADI4 (R383H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059475	NM_012387.3(PADI4):c.1149C>A (p.Arg383=)	PADI4	Single nucleotide variant (synonymous variant)	PADI4-related disorder	GBenign
Select item 2638395	NM_012387.3(PADI4):c.1224G>A (p.Gly408=)	PADI4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3207973	NM_012387.3(PADI4):c.1281G>T (p.Arg427Ser)	PADI4 (R427S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352315	NM_012387.3(PADI4):c.1291G>A (p.Gly431Arg)	PADI4 (G431R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207974	NM_012387.3(PADI4):c.1306C>G (p.Pro436Ala)	PADI4 (P436A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232191	NM_012387.3(PADI4):c.1321C>T (p.Arg441Trp)	PADI4 (R441W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204903	NM_012387.3(PADI4):c.1324C>A (p.Gln442Lys)	PADI4 (Q442K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594075	NM_012387.3(PADI4):c.1352T>G (p.Leu451Arg)	PADI4 (L451R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207976	NM_012387.3(PADI4):c.1648C>T (p.Arg550Cys)	PADI4 (R550C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261189	NM_012387.3(PADI4):c.1663C>T (p.Arg555Trp)	PADI4 (R555W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598972	NM_012387.3(PADI4):c.1822G>A (p.Gly608Ser)	PADI4 (G608S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043093	NM_012387.3(PADI4):c.1825C>T (p.Arg609Cys)	PADI4 (R609C)	Single nucleotide variant (missense variant)	PADI4-related disorder	GLikely benign
Select item 3207977	NM_012387.3(PADI4):c.1826G>A (p.Arg609His)	PADI4 (R609H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034264	NM_012387.3(PADI4):c.1938C>T (p.Gly646=)	PADI4	Single nucleotide variant (synonymous variant)	PADI4-related disorder	GLikely benign
Select item 3207978	NM_012387.3(PADI4):c.1952G>A (p.Arg651Lys)	PADI4 (R651K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2685344	GRCh37/hg19 1p36.13(chr1:17540065-17657616)x1	PADI1, PADI3 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	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 1341268	GRCh37/hg19 1p36.13(chr1:17284531-17770100)x1	ATP13A2, CROCC +8 more	Copy number loss	not provided	GPathogenic
Select item 1340990	GRCh37/hg19 1p36.13(chr1:16773001-20221073)x1	ACTL8, AKR7A2 +38 more	Copy number loss	not provided	GPathogenic
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	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 980391	GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1	AKR7A3, AKR7L +51 more	Copy number loss	not provided	GPathogenic
Select item 814061	GRCh37/hg19 1p36.13(chr1:17603603-17692915)x1	PADI3, PADI4	Copy number loss	not provided	GUncertain significance
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 565080	GRCh37/hg19 1p36.13(chr1:17291706-18585289)x3	ACTL8, ARHGEF10L +11 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 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: 81