RNF135[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 155302	GRCh38/hg38 17q11.2(chr17:30599358-31009835)x1	ADAP2, ATAD5 +24 more	Copy number loss	See cases	GUncertain significance
Select item 155193	GRCh38/hg38 17q11.2(chr17:30614048-30999204)x1	ADAP2, ATAD5 +22 more	Copy number loss	See cases	GLikely pathogenic
Select item 144773	GRCh38/hg38 17q11.2(chr17:30614048-30969331)x1	ADAP2, ATAD5 +19 more	Copy number loss	See cases	GUncertain significance
Select item 153736	GRCh38/hg38 17q11.2(chr17:30625268-32059496)x1	ADAP2, ATAD5 +73 more	Copy number loss	See cases	GPathogenic
Select item 58136	GRCh38/hg38 17q11.2(chr17:30630734-32088380)x3	ADAP2, ATAD5 +74 more	Copy number gain	See cases	GPathogenic
Select item 145059	GRCh38/hg38 17q11.2(chr17:30642544-31005259)x3	ADAP2, ATAD5 +21 more	Copy number gain	See cases	GUncertain significance
Select item 59306	GRCh38/hg38 17q11.2(chr17:30650145-31015565)x3	ADAP2, ATAD5 +21 more	Copy number gain	See cases	GUncertain significance
Select item 1678524	NC_000017.11:g.30660608_31159168inv	ADAP2, ATAD5 +27 more	Inversion	Neurofibromatosis, type 1	GPathogenic
Select item 153222	GRCh38/hg38 17q11.2(chr17:30666018-32085769)x1	ADAP2, ATAD5 +72 more	Copy number loss	See cases	GPathogenic
Select item 58139	GRCh38/hg38 17q11.2(chr17:30667972-32023858)x3	ADAP2, ATAD5 +69 more	Copy number gain	See cases	GPathogenic
Select item 60460	GRCh38/hg38 17q11.2(chr17:30672816-31999939)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 153915	GRCh38/hg38 17q11.2(chr17:30677603-32071701)x3	ADAP2, ATAD5 +70 more	Copy number gain	See cases	GUncertain significance
Select item 155211	GRCh38/hg38 17q11.2(chr17:30678153-32073866)x1	ADAP2, ATAD5 +70 more	Copy number loss	See cases	GPathogenic
Select item 151510	GRCh38/hg38 17q11.2(chr17:30684919-32021402)x1	ADAP2, ATAD5 +68 more	Copy number loss	See cases	GPathogenic
Select item 150276	GRCh38/hg38 17q11.2(chr17:30706845-31999933)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 60461	GRCh38/hg38 17q11.2(chr17:30706863-31994624)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 160878	GRCh38/hg38 17q11.2(chr17:30706864-31999939)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 148464	GRCh38/hg38 17q11.2(chr17:30706864-31016678)x1	ADAP2, ATAD5 +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 57031	GRCh38/hg38 17q11.2(chr17:30706864-32099761)x3	ADAP2, ATAD5 +72 more	Copy number gain	See cases	GPathogenic
Select item 34989	GRCh38/hg38 17q11.2(chr17:30706864-31999939)x3	ADAP2, ATAD5 +65 more	Copy number gain	See cases	GUncertain significance
Select item 60462	GRCh38/hg38 17q11.2(chr17:30767194-31937486)x1	ADAP2, ATAD5 +62 more	Copy number loss	See cases	GPathogenic
Select item 154090	GRCh38/hg38 17q11.2(chr17:30831320-31322174)x3	ADAP2, ATAD5 +29 more	Copy number gain	See cases	GUncertain significance
Select item 60138	GRCh38/hg38 17q11.2(chr17:30893477-30993653)x3	ADAP2, ATAD5 +13 more	Copy number gain	See cases	GUncertain significance
Select item 1199879	NC_000017.11:g.30970713T>C	RNF135	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1209562	NC_000017.11:g.30970857C>T	RNF135	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1296608	NC_000017.11:g.30970892C>G	RNF135	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1203910	NC_000017.11:g.30970910T>C	RNF135	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 3046558	NM_032322.4(RNF135):c.5C>T (p.Ala2Val)	RNF135 (A2V)	Single nucleotide variant (missense variant)	RNF135-related disorder	GUncertain significance
Select item 931426	NM_032322.4(RNF135):c.20G>C (p.Gly7Ala)	RNF135 (G7A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2232824	NM_032322.4(RNF135):c.56T>C (p.Leu19Pro)	RNF135 (L19P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040412	NM_032322.4(RNF135):c.69C>A (p.Ile23=)	RNF135	Single nucleotide variant (synonymous variant)	RNF135-related disorder	GLikely benign
Select item 3314733	NM_032322.4(RNF135):c.119T>C (p.Phe40Ser)	RNF135 (F40S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343688	NM_032322.4(RNF135):c.124C>T (p.Arg42Cys)	RNF135 (R42C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 720084	NM_032322.4(RNF135):c.129C>T (p.His43=)	RNF135	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2608296	NM_032322.4(RNF135):c.152C>G (p.Ala51Gly)	RNF135 (A51G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314572	NM_032322.4(RNF135):c.196G>T (p.Ala66Ser)	RNF135 (A66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046986	NM_032322.4(RNF135):c.198C>T (p.Ala66=)	RNF135	Single nucleotide variant (synonymous variant)	RNF135-related disorder	GLikely benign
Select item 2226597	NM_032322.4(RNF135):c.200C>G (p.Ala67Gly)	RNF135 (A67G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1232153	NM_032322.4(RNF135):c.213C>G (p.His71Gln)	RNF135 (H71Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2353132	NM_032322.4(RNF135):c.218G>A (p.Arg73Gln)	RNF135 (R73Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314730	NM_032322.4(RNF135):c.229C>G (p.Leu77Val)	RNF135 (L77V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725172	NM_032322.4(RNF135):c.237G>A (p.Gln79=)	RNF135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3155033	NM_032322.4(RNF135):c.240C>A (p.Asp80Glu)	RNF135 (D80E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467750	NM_032322.4(RNF135):c.240C>G (p.Asp80Glu)	RNF135 (D80E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739924	NM_032322.4(RNF135):c.241C>T (p.Leu81=)	RNF135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2313667	NM_032322.4(RNF135):c.265G>A (p.Ala89Thr)	RNF135 (A89T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313668	NM_032322.4(RNF135):c.266C>A (p.Ala89Glu)	RNF135 (A89E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781275	NM_032322.4(RNF135):c.292C>G (p.Pro98Ala)	RNF135 (P98A)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 436547	NM_032322.4(RNF135):c.299A>G (p.His100Arg)	RNF135 (H100R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2232386	NM_032322.4(RNF135):c.308G>T (p.Cys103Phe)	RNF135 (C103F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1296606	NM_032322.4(RNF135):c.322T>C (p.Ser108Pro)	RNF135 (S108P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 436548	NM_032322.4(RNF135):c.344G>A (p.Arg115Lys)	RNF135 (R115K)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 3155035	NM_032322.4(RNF135):c.346C>T (p.Pro116Ser)	RNF135 (P116S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155036	NM_032322.4(RNF135):c.356G>A (p.Arg119His)	RNF135 (R119H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 212057	NM_032322.4(RNF135):c.356_357delinsAA (p.Arg119Gln)	RNF135 (R119Q)	Indel (missense variant)	not specified	GUncertain significance
Select item 1175527	NM_032322.4(RNF135):c.360G>T (p.Pro120=)	RNF135	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1329594	NM_032322.4(RNF135):c.372+1G>T	RNF135	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 808248	NM_032322.4(RNF135):c.372+2dup	RNF135	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 1211129	NM_032322.4(RNF135):c.372+141T>C	RNF135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191514	NM_032322.4(RNF135):c.372+142C>T	RNF135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 152771	GRCh38/hg38 17q11.2(chr17:30975560-31005259)x3	RNF135	Copy number gain	See cases	GUncertain significance
Select item 3054288	NM_032322.4(RNF135):c.377C>T (p.Ala126Val)	RNF135 (A126V)	Single nucleotide variant (missense variant)	RNF135-related disorder	GLikely benign
Select item 377053	NM_032322.4(RNF135):c.389G>A (p.Ser130Asn)	RNF135 (S130N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2255820	NM_032322.4(RNF135):c.496G>A (p.Glu166Lys)	RNF135 (E166K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1183767	NM_032322.4(RNF135):c.516+178G>C	RNF135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189316	NM_032322.4(RNF135):c.517-225T>C	RNF135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257013	NM_032322.4(RNF135):c.517-176_517-170del	RNF135	Deletion (intron variant)	not provided	GBenign
Select item 596879	NM_032322.4(RNF135):c.518C>G (p.Ala173Gly)	RNF135 (A173G)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 725291	NM_032322.4(RNF135):c.527C>G (p.Ser176Cys)	RNF135 (S176C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1216257	NM_032322.4(RNF135):c.532G>A (p.Val178Met)	RNF135 (V178M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 708740	NM_032322.4(RNF135):c.573C>T (p.Asp191=)	RNF135	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1032948	NM_032322.4(RNF135):c.575C>T (p.Thr192Ile)	RNF135 (T192I)	Single nucleotide variant (missense variant +1 more)	Chromosome 17q11.2 deletion syndrome, 1.4Mb	GUncertain significance
Select item 3155037	NM_032322.4(RNF135):c.597T>G (p.Asp199Glu)	RNF135 (D199E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 798603	NM_032322.4(RNF135):c.604C>T (p.His202Tyr)	RNF135 (H202Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3155038	NM_032322.4(RNF135):c.643G>A (p.Val215Ile)	RNF135 (V215I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1314623	NM_032322.4(RNF135):c.668C>T (p.Ala223Val)	RNF135 (A223V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 771494	NM_032322.4(RNF135):c.669A>G (p.Ala223=)	RNF135	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1286991	NM_032322.4(RNF135):c.679+69G>C	RNF135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187675	NM_032322.4(RNF135):c.679+301C>A	RNF135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264357	NM_032322.4(RNF135):c.680-3485A>T	RNF135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283331	NM_032322.4(RNF135):c.680-91G>A	RNF135	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180337	NM_032322.4(RNF135):c.680-64_680-61del	RNF135	Deletion (intron variant)	not provided	GLikely benign
Select item 1201926	NM_032322.4(RNF135):c.680-61_680-60insCCAAACATCTCCAA	RNF135	Insertion (intron variant)	not provided	GLikely benign
Select item 1326767	NM_032322.4(RNF135):c.691_710dup (p.Cys238fs)	RNF135 (C238fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3314729	NM_032322.4(RNF135):c.726C>T (p.Asp242=)	RNF135 (T264I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 975	NM_032322.4(RNF135):c.727C>T (p.Gln243Ter)	RNF135 (Q243*)	Single nucleotide variant (synonymous variant +1 more)	Macrocephaly, macrosomia, facial dysmorphism syndrome	GUncertain significance
Select item 976	NM_032322.4(RNF135):c.742del (p.Leu248fs)	RNF135 (S270fs +2 more)	Deletion (frameshift variant)	Macrocephaly, macrosomia, facial dysmorphism syndrome	GUncertain significance
Select item 2596241	NM_032322.4(RNF135):c.758G>A (p.Arg253Gln)	RNF135 (G199S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 546791	NM_032322.4(RNF135):c.770-7T>C	RNF135	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3155039	NM_032322.4(RNF135):c.803T>C (p.Leu268Pro)	RNF135 (L268P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3155040	NM_032322.4(RNF135):c.812G>A (p.Ser271Asn)	RNF135 (S271N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 721428	NM_032322.4(RNF135):c.816G>A (p.Leu272=)	RNF135	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2338316	NM_032322.4(RNF135):c.836G>A (p.Arg279His)	RNF135 (R279H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2262960	NM_032322.4(RNF135):c.841G>A (p.Val281Met)	RNF135 (V281M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 744633	NM_032322.4(RNF135):c.846T>C (p.Thr282=)	RNF135	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 757540	NM_032322.4(RNF135):c.856C>T (p.Arg286Cys)	RNF135 (R286C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 978	NM_032322.4(RNF135):c.857G>A (p.Arg286His)	RNF135 (R286H)	Single nucleotide variant (missense variant +1 more)	Macrocephaly, macrosomia, facial dysmorphism syndrome	GUncertain significance
Select item 3155041	NM_032322.4(RNF135):c.860C>T (p.Pro287Leu)	RNF135 (P287L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 283729	NM_032322.4(RNF135):c.901del (p.Gln301fs)	RNF135 (Q301fs)	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance

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