353238[geneid] - ClinVar - NCBI

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	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 1308687	NM_207421.4(PADI6):c.5dup (p.Ser3fs)	PADI6 (S3fs)	Duplication (frameshift variant)	Preimplantation embryonic lethality 2	GPathogenic
Select item 3031452	NM_207421.4(PADI6):c.135C>T (p.Cys45=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 2243462	NM_207421.4(PADI6):c.152A>G (p.His51Arg)	PADI6 (H51R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207982	NM_207421.4(PADI6):c.188C>T (p.Thr63Met)	PADI6 (T63M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342929	NM_207421.4(PADI6):c.242C>T (p.Thr81Met)	PADI6 (T81M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1334958	NM_207421.4(PADI6):c.243G>A (p.Thr81=)	PADI6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3054182	NM_207421.4(PADI6):c.246C>T (p.Tyr82=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 3054892	NM_207421.4(PADI6):c.249C>T (p.Ala83=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 3033044	NM_207421.4(PADI6):c.264A>G (p.Thr88=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 2211713	NM_207421.4(PADI6):c.266C>T (p.Ser89Leu)	PADI6 (S89L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1701095	NM_207421.4(PADI6):c.280G>A (p.Val94Met)	PADI6 (V94M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675348	NM_207421.4(PADI6):c.280G>T (p.Val94Leu)	PADI6 (V94L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1176184	NM_207421.4(PADI6):c.286G>A (p.Ala96Thr)	PADI6 (A96T)	Single nucleotide variant (missense variant)	PADI6-related disorder +1 more	GLikely benign
Select item 1308685	NM_207421.4(PADI6):c.294+5G>A	PADI6	Single nucleotide variant (intron variant)	Preimplantation embryonic lethality 2	GUncertain significance
Select item 2209894	NM_207421.4(PADI6):c.317C>A (p.Pro106His)	PADI6 (P106H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561525	NM_207421.4(PADI6):c.334G>A (p.Val112Met)	PADI6 (V112M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3054348	NM_207421.4(PADI6):c.368-10_368-8del	PADI6	Microsatellite (intron variant)	PADI6-related disorder	GLikely benign
Select item 2285327	NM_207421.4(PADI6):c.381G>T (p.Glu127Asp)	PADI6 (E127D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3207983	NM_207421.4(PADI6):c.395G>A (p.Arg132His)	PADI6 (R132H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2633287	NM_207421.4(PADI6):c.441dup (p.Trp148fs)	PADI6 (W148fs)	Duplication (frameshift variant)	PADI6-related disorder	GLikely pathogenic
Select item 812130	NM_207421.4(PADI6):c.519G>C (p.Glu173Asp)	PADI6 (E173D)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 2269430	NM_207421.4(PADI6):c.541A>T (p.Ile181Phe)	PADI6 (I181F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1308678	NM_207421.4(PADI6):c.559dup (p.Thr187fs)	LOC126805634, PADI6 (T187fs)	Duplication (frameshift variant)	Preimplantation embryonic lethality 2	GPathogenic
Select item 3207984	NM_207421.4(PADI6):c.619C>T (p.Arg207Trp)	LOC126805634, PADI6 (R207W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 372230	NM_207421.4(PADI6):c.633T>A (p.His211Gln)	LOC126805634, PADI6 (H211Q)	Single nucleotide variant (missense variant)	Preimplantation embryonic lethality 2	GPathogenic
Select item 3049097	NM_207421.4(PADI6):c.651G>A (p.Ser217=)	LOC126805634, PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 1308676	NM_207421.4(PADI6):c.659C>A (p.Ala220Glu)	PADI6, LOC126805634 (A220E)	Single nucleotide variant (missense variant)	Preimplantation embryonic lethality 2	GLikely pathogenic
Select item 3054843	NM_207421.4(PADI6):c.660G>A (p.Ala220=)	LOC126805634, PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 2602361	NM_207421.4(PADI6):c.688T>G (p.Ser230Ala)	PADI6 (S230A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214356	NM_207421.4(PADI6):c.705G>T (p.Leu235Phe)	PADI6 (L235F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1308683	NM_207421.4(PADI6):c.707dup (p.Leu237fs)	PADI6 (L237fs)	Duplication (frameshift variant)	Preimplantation embryonic lethality 2	GPathogenic
Select item 3036779	NM_207421.4(PADI6):c.711G>C (p.Leu237=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 2372799	NM_207421.4(PADI6):c.718G>A (p.Asp240Asn)	PADI6 (D240N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075995	NM_207421.4(PADI6):c.721C>T (p.Gln241Ter)	PADI6 (Q241*)	Single nucleotide variant (nonsense)	Preimplantation embryonic lethality 2	GLikely pathogenic
Select item 2306431	NM_207421.4(PADI6):c.742C>T (p.Leu248Phe)	PADI6 (L248F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315597	NM_207421.4(PADI6):c.754C>A (p.His252Asn)	PADI6 (H252N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052593	NM_207421.4(PADI6):c.775G>A (p.Val259Ile)	PADI6 (V259I)	Single nucleotide variant (missense variant)	PADI6-related disorder	GBenign
Select item 3207985	NM_207421.4(PADI6):c.781G>A (p.Ala261Thr)	PADI6 (A261T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224684	NM_207421.4(PADI6):c.794C>T (p.Pro265Leu)	PADI6 (P265L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361308	NM_207421.4(PADI6):c.802G>A (p.Glu268Lys)	PADI6 (E268K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286189	NM_207421.4(PADI6):c.817A>G (p.Ile273Val)	PADI6 (I273V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207986	NM_207421.4(PADI6):c.819C>G (p.Ile273Met)	PADI6 (I273M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217840	NM_207421.4(PADI6):c.857C>T (p.Pro286Leu)	PADI6 (P286L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039432	NM_207421.4(PADI6):c.873T>C (p.Thr291=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 3054283	NM_207421.4(PADI6):c.879G>A (p.Leu293=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 3040422	NM_207421.4(PADI6):c.897G>A (p.Val299=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 372231	NM_207421.4(PADI6):c.970C>T (p.Gln324Ter)	PADI6 (Q324*)	Single nucleotide variant (nonsense)	Preimplantation embryonic lethality 2	GPathogenic
Select item 2204560	NM_207421.4(PADI6):c.998C>T (p.Thr333Met)	PADI6 (T333M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3030468	NM_207421.4(PADI6):c.999G>A (p.Thr333=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 1308684	NM_207421.4(PADI6):c.1006A>C (p.Ser336Arg)	PADI6 (S336R)	Single nucleotide variant (missense variant)	Preimplantation embryonic lethality 2	GUncertain significance
Select item 3055140	NM_207421.4(PADI6):c.1017C>T (p.Ser339=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 1308679	NM_207421.4(PADI6):c.1043_1044dup (p.Asp349fs)	PADI6 (D349fs)	Duplication (frameshift variant)	Preimplantation embryonic lethality 2	GPathogenic
Select item 1308677	NM_207421.4(PADI6):c.1054C>T (p.Arg352Cys)	PADI6 (R352C)	Single nucleotide variant (missense variant)	Preimplantation embryonic lethality 2	GLikely pathogenic
Select item 3048665	NM_207421.4(PADI6):c.1075-6T>C	LOC126805635, PADI6	Single nucleotide variant (intron variant)	PADI6-related disorder	GLikely benign
Select item 1675349	NM_207421.4(PADI6):c.1126dup (p.Ile376fs)	LOC126805635, PADI6 (I376fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 372228	NM_207421.4(PADI6):c.1141C>T (p.Gln381Ter)	LOC126805635, PADI6 (Q381*)	Single nucleotide variant (nonsense)	Preimplantation embryonic lethality 2	GPathogenic
Select item 3045571	NM_207421.4(PADI6):c.1182+9C>T	LOC126805635, PADI6	Single nucleotide variant (intron variant)	PADI6-related disorder	GLikely benign
Select item 3036080	NM_207421.4(PADI6):c.1183-9C>A	LOC126805635, PADI6	Single nucleotide variant (intron variant)	PADI6-related disorder	GLikely benign
Select item 1308686	NM_207421.4(PADI6):c.1247T>C (p.Ile416Thr)	LOC126805635, PADI6 (I416T)	Single nucleotide variant (missense variant)	Preimplantation embryonic lethality 2	GLikely pathogenic
Select item 1308680	NM_207421.4(PADI6):c.1298C>T (p.Pro433Leu)	LOC126805635, PADI6 (P433L)	Single nucleotide variant (missense variant)	Preimplantation embryonic lethality 2	GLikely pathogenic
Select item 2258088	NM_207421.4(PADI6):c.1486G>C (p.Gly496Arg)	PADI6 (G496R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3054430	NM_207421.4(PADI6):c.1515C>T (p.Ala505=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 2401291	NM_207421.4(PADI6):c.1568G>A (p.Gly523Asp)	PADI6 (G523D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3047619	NM_207421.4(PADI6):c.1569C>T (p.Gly523=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 3047296	NM_207421.4(PADI6):c.1572C>T (p.Asp524=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 372232	NM_207421.4(PADI6):c.1618G>A (p.Gly540Arg)	PADI6 (G540R)	Single nucleotide variant (missense variant)	Preimplantation embryonic lethality 2	GLikely pathogenic
Select item 704516	NM_207421.4(PADI6):c.1618+204G>A	PADI6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3032520	NM_207421.4(PADI6):c.1626A>G (p.Glu542=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 932497	NM_207421.4(PADI6):c.1639G>A (p.Asp547Asn)	PADI6 (D547N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3046023	NM_207421.4(PADI6):c.1690-23CCCA[8]	PADI6	Microsatellite (intron variant)	PADI6-related disorder	GLikely benign
Select item 3035678	NM_207421.4(PADI6):c.1690-23CCCA[7]	PADI6	Microsatellite (intron variant)	PADI6-related disorder	GLikely benign
Select item 3031012	NM_207421.4(PADI6):c.1719G>A (p.Leu573=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 2299313	NM_207421.4(PADI6):c.1733G>A (p.Gly578Asp)	PADI6 (G578D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1308682	NM_207421.4(PADI6):c.1756G>A (p.Glu586Lys)	PADI6 (E586K)	Single nucleotide variant (missense variant)	Preimplantation embryonic lethality 2	GUncertain significance
Select item 1308689	NM_207421.4(PADI6):c.1765C>A (p.Gln589Lys)	PADI6 (Q589K)	Single nucleotide variant (missense variant)	Preimplantation embryonic lethality 2	GUncertain significance
Select item 3055206	NM_207421.4(PADI6):c.1782G>A (p.Glu594=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 2535572	NM_207421.4(PADI6):c.1817A>C (p.Lys606Thr)	PADI6 (K606T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057573	NM_207421.4(PADI6):c.1851+9C>T	PADI6	Single nucleotide variant (intron variant)	PADI6-related disorder	GLikely benign
Select item 3053209	NM_207421.4(PADI6):c.1851+10G>A	PADI6	Single nucleotide variant (intron variant)	PADI6-related disorder	GLikely benign
Select item 2434565	NM_207421.4(PADI6):c.1854dup (p.Arg619fs)	PADI6 (R619fs)	Duplication (frameshift variant)	Preimplantation embryonic lethality 2	GUncertain significance
Select item 1308681	NM_207421.4(PADI6):c.1894C>A (p.Pro632Thr)	PADI6 (P632T)	Single nucleotide variant (missense variant)	Preimplantation embryonic lethality 2	GLikely pathogenic
Select item 1308688	NM_207421.4(PADI6):c.1996dup (p.Cys666fs)	PADI6 (C666fs)	Duplication (frameshift variant)	Preimplantation embryonic lethality 2	GPathogenic
Select item 3052576	NM_207421.4(PADI6):c.1998T>C (p.Cys666=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
Select item 2356296	NM_207421.4(PADI6):c.1999T>C (p.Tyr667His)	PADI6 (Y667H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 372229	NM_207421.4(PADI6):c.2009_2010del (p.Glu670fs)	PADI6 (E670fs)	Microsatellite (frameshift variant)	Preimplantation embryonic lethality 2	GPathogenic
Select item 3050975	NM_207421.4(PADI6):c.2037C>T (p.Asn679=)	PADI6	Single nucleotide variant (synonymous variant)	PADI6-related disorder	GLikely benign
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 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

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