RNF207[gene] - 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	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC121967050, LOC121967051 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	CEP104, CFAP74 +449 more	Copy number loss	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	ACAP3, ACOT7 +441 more	Copy number loss	See cases	GPathogenic
Select item 57440	GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	ACAP3, ACOT7 +401 more	Copy number loss	See cases	GPathogenic
Select item 150566	GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	LOC129929237, LOC129929238 +401 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	LOC129929075, LOC129929076 +464 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 57390	GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1	ACOT7, ACTRT2 +226 more	Copy number loss	See cases	GPathogenic
Select item 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 more	Copy number loss	See cases	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 59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	ACOT7, AJAP1 +193 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 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 2615273	NM_207396.3(RNF207):c.5C>G (p.Ser2Trp)	LOC129929222, RNF207 (S2W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155275	NM_207396.3(RNF207):c.74G>A (p.Cys25Tyr)	RNF207 (C25Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231578	NM_207396.3(RNF207):c.101G>A (p.Arg34His)	RNF207 (R34H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155263	NM_207396.3(RNF207):c.117C>G (p.Asp39Glu)	RNF207 (D39E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155266	NM_207396.3(RNF207):c.134G>A (p.Cys45Tyr)	RNF207 (C45Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461673	NM_207396.3(RNF207):c.136G>A (p.Ala46Thr)	RNF207 (A46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314837	NM_207396.3(RNF207):c.160A>G (p.Thr54Ala)	RNF207 (T54A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380200	NM_207396.3(RNF207):c.179G>A (p.Cys60Tyr)	RNF207 (C60Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519396	NM_207396.3(RNF207):c.220G>A (p.Gly74Arg)	RNF207 (G74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256295	NM_207396.3(RNF207):c.221G>A (p.Gly74Glu)	RNF207 (G74E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407737	NM_207396.3(RNF207):c.230C>T (p.Pro77Leu)	RNF207 (P77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611893	NM_207396.3(RNF207):c.257T>C (p.Val86Ala)	RNF207 (V86A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466218	NM_207396.3(RNF207):c.277G>A (p.Val93Met)	RNF207 (V93M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155271	NM_207396.3(RNF207):c.290G>C (p.Arg97Pro)	RNF207 (R97P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261347	NM_207396.3(RNF207):c.356G>A (p.Cys119Tyr)	LOC121967057, RNF207 (C119Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155272	NM_207396.3(RNF207):c.515T>G (p.Leu172Trp)	RNF207 (L172W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729039	NM_207396.3(RNF207):c.519G>A (p.Leu173=)	RNF207	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3155273	NM_207396.3(RNF207):c.571G>A (p.Val191Met)	RNF207 (V191M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461674	NM_207396.3(RNF207):c.664A>G (p.Ile222Val)	RNF207 (I222V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155274	NM_207396.3(RNF207):c.673C>G (p.Leu225Val)	RNF207 (L225V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314833	NM_207396.3(RNF207):c.742G>C (p.Gly248Arg)	RNF207 (G248R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155276	NM_207396.3(RNF207):c.785T>C (p.Leu262Pro)	RNF207 (L262P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247140	NM_207396.3(RNF207):c.811G>A (p.Glu271Lys)	RNF207 (E271K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301701	NM_207396.3(RNF207):c.834G>T (p.Glu278Asp)	RNF207 (E278D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368066	NM_207396.3(RNF207):c.844C>T (p.His282Tyr)	RNF207 (H282Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312399	NM_207396.3(RNF207):c.969C>G (p.Ile323Met)	RNF207 (I323M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551135	NM_207396.3(RNF207):c.986A>C (p.His329Pro)	RNF207 (H329P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276449	NM_207396.3(RNF207):c.1006A>G (p.Ser336Gly)	RNF207 (S336G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314834	NM_207396.3(RNF207):c.1028G>A (p.Arg343Gln)	RNF207 (R343Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334867	NM_207396.3(RNF207):c.1070G>A (p.Gly357Glu)	RNF207 (G357E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374540	NM_207396.3(RNF207):c.1075C>T (p.Arg359Cys)	RNF207 (R359C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155262	NM_207396.3(RNF207):c.1076G>A (p.Arg359His)	RNF207 (R359H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314836	NM_207396.3(RNF207):c.1079G>A (p.Arg360Gln)	RNF207 (R360Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 804431	NM_207396.3(RNF207):c.1109+1G>A	RNF207	Single nucleotide variant (splice donor variant)	Long QT syndrome	GLikely pathogenic
Select item 2390670	NM_207396.3(RNF207):c.1130C>T (p.Pro377Leu)	RNF207 (P377L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469033	NM_207396.3(RNF207):c.1136C>T (p.Ala379Val)	RNF207 (A379V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3314830	NM_207396.3(RNF207):c.1189G>A (p.Val397Ile)	RNF207 (V397I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464226	NM_207396.3(RNF207):c.1202C>T (p.Thr401Met)	RNF207 (T401M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155264	NM_207396.3(RNF207):c.1205T>G (p.Leu402Arg)	RNF207 (L402R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615532	NM_207396.3(RNF207):c.1210C>T (p.Arg404Trp)	RNF207 (R404W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339964	NM_207396.3(RNF207):c.1246G>C (p.Glu416Gln)	RNF207 (E416Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314829	NM_207396.3(RNF207):c.1264G>A (p.Glu422Lys)	RNF207 (E422K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324541	NM_207396.3(RNF207):c.1269C>G (p.His423Gln)	RNF207 (H423Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155265	NM_207396.3(RNF207):c.1294C>T (p.Arg432Trp)	RNF207 (R432W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342138	NM_207396.3(RNF207):c.1370C>T (p.Ser457Leu)	RNF207 (S457L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514725	NM_207396.3(RNF207):c.1393G>A (p.Gly465Arg)	RNF207 (G465R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392785	NM_207396.3(RNF207):c.1426G>A (p.Val476Met)	RNF207 (V476M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324728	NM_207396.3(RNF207):c.1426G>T (p.Val476Leu)	RNF207 (V476L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352194	NM_207396.3(RNF207):c.1435G>A (p.Ala479Thr)	RNF207 (A479T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254076	NM_207396.3(RNF207):c.1439C>T (p.Ser480Leu)	RNF207 (S480L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296313	NM_207396.3(RNF207):c.1488G>T (p.Trp496Cys)	RNF207 (W496C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304407	NM_207396.3(RNF207):c.1496C>T (p.Ala499Val)	RNF207 (A499V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314832	NM_207396.3(RNF207):c.1505G>A (p.Arg502Gln)	RNF207 (R502Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3155267	NM_207396.3(RNF207):c.1522G>C (p.Glu508Gln)	RNF207 (E508Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155268	NM_207396.3(RNF207):c.1558C>A (p.Leu520Met)	RNF207 (L520M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492646	NM_207396.3(RNF207):c.1589T>C (p.Ile530Thr)	RNF207 (I530T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155269	NM_207396.3(RNF207):c.1604C>T (p.Thr535Met)	RNF207 (T535M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271464	NM_207396.3(RNF207):c.1606C>T (p.Pro536Ser)	RNF207 (P536S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390152	NM_207396.3(RNF207):c.1705G>A (p.Asp569Asn)	RNF207 (D569N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618181	NM_207396.3(RNF207):c.1711A>G (p.Arg571Gly)	RNF207 (R571G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1274153	NM_207396.3(RNF207):c.1718A>G (p.Asn573Ser)	RNF207 (N573S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2626994	NM_207396.3(RNF207):c.1744G>A (p.Gly582Arg)	RNF207 (G582R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2537656	NM_207396.3(RNF207):c.1745G>C (p.Gly582Ala)	RNF207 (G582A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314835	NM_207396.3(RNF207):c.1871G>A (p.Gly624Asp)	RNF207 (G624D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304823	NM_207396.3(RNF207):c.1873G>A (p.Asp625Asn)	RNF207 (D625N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2501755	NM_207396.3(RNF207):c.1889_1892del (p.Arg630fs)	RNF207 (R630fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	DNAJC11, DRAXIN +76 more	Deletion	not provided	GUncertain significance
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 3063343	GRCh37/hg19 1p36.32-36.23(chr1:4536962-7934520)x1	ACOT7, AJAP1 +23 more	Copy number loss	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2574677	GRCh37/hg19 1p36.33-36.31(chr1:1957148-6553454)	ACOT7, ACTRT2 +40 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1808536	GRCh37/hg19 1p36.31(chr1:5505039-7027995)x1	ACOT7, CAMTA1 +19 more	Copy number loss	not provided	GPathogenic
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic
Select item 1703625	GRCh37/hg19 1p36.31-36.23(chr1:6250285-7943864)	ICMT, KLHL21 +19 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1341993	GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	DNAJC11, DVL1 +101 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic

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