RNF220[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 154514	GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3	LOC112590795, LOC122056854 +88 more	Copy number gain	See cases	GUncertain significance
Select item 2280818	NM_018150.4(RNF220):c.94G>A (p.Ala32Thr)	RNF220 (A32T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155331	NM_018150.4(RNF220):c.106C>T (p.Arg36Cys)	RNF220 (R36C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387408	NM_018150.4(RNF220):c.118A>G (p.Ile40Val)	RNF220 (I40V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412176	NM_018150.4(RNF220):c.214A>G (p.Met72Val)	RNF220 (M72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155336	NM_018150.4(RNF220):c.216G>A (p.Met72Ile)	RNF220 (M72I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560685	NM_018150.4(RNF220):c.298G>T (p.Ala100Ser)	RNF220 (A100S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482805	NM_018150.4(RNF220):c.299C>T (p.Ala100Val)	RNF220 (A100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389273	NM_018150.4(RNF220):c.325A>G (p.Ile109Val)	RNF220 (I109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155337	NM_018150.4(RNF220):c.479G>A (p.Gly160Asp)	RNF220 (G160D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155339	NM_018150.4(RNF220):c.527C>T (p.Ser176Leu)	RNF220 (S176L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155340	NM_018150.4(RNF220):c.613C>T (p.Arg205Trp)	RNF220 (R205W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151331	GRCh38/hg38 1p34.1(chr1:44514045-44535607)x1	LOC110120644, RNF220	Copy number loss	See cases	GBenign
Select item 2617306	NM_018150.4(RNF220):c.737A>G (p.Gln246Arg)	RNF220 (Q7R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263107	NM_018150.4(RNF220):c.820G>A (p.Ala274Thr)	RNF220 (A35T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610272	NM_018150.4(RNF220):c.1011G>A (p.Met337Ile)	RNF220 (M124I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337302	NM_018150.4(RNF220):c.1033A>G (p.Ile345Val)	RNF220 (I345V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486344	NM_018150.4(RNF220):c.1055G>A (p.Arg352His)	RNF220 (R139H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155330	NM_018150.4(RNF220):c.1069G>A (p.Glu357Lys)	RNF220 (E383K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1333094	NM_018150.4(RNF220):c.1088G>A (p.Arg363Gln)	RNF220 (R363Q +3 more)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy	GPathogenic
Select item 1333093	NM_018150.4(RNF220):c.1094G>A (p.Arg365Gln)	RNF220 (R365Q +3 more)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy	GPathogenic
Select item 2231302	NM_018150.4(RNF220):c.1124G>A (p.Arg375Gln)	RNF220 (R375Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155332	NM_018150.4(RNF220):c.1139T>C (p.Ile380Thr)	RNF220 (I380T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155333	NM_018150.4(RNF220):c.1157A>G (p.Glu386Gly)	RNF220 (E173G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638772	NM_018150.4(RNF220):c.1251C>T (p.Cys417=)	RNF220	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638773	NM_018150.4(RNF220):c.1299C>T (p.Gly433=)	RNF220	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2396909	NM_018150.4(RNF220):c.1328C>T (p.Thr443Met)	RNF220 (T469M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155334	NM_018150.4(RNF220):c.1456G>T (p.Asp486Tyr)	RNF220 (D486Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371572	NM_018150.4(RNF220):c.1469C>A (p.Thr490Asn)	RNF220 (T516N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638774	NM_018150.4(RNF220):c.1473G>A (p.Thr491=)	RNF220	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3155335	NM_018150.4(RNF220):c.1559C>T (p.Ser520Leu)	RNF220 (S262L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063077	GRCh37/hg19 1p34.1(chr1:44810778-45212378)x3	ARMH1, ERI3 +3 more	Copy number gain	not specified	GUncertain significance
Select item 2425557	NC_000001.10:g.(?_44257753)_(46663493_?)dup	AKR1A1, ARMH1 +39 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1684561	GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3	AKR1A1, ARMH1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 814069	GRCh37/hg19 1p34.1(chr1:44810778-45216633)x3	TMEM53, ARMH1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 814068	GRCh37/hg19 1p34.1(chr1:44424878-45207102)x1	IPO13, ERI3 +11 more	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 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	CLSPN, COL8A2 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
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 395212	GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1	ARTN, ATP6V0B +36 more	Copy number loss	See cases	GPathogenic

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Items: 45