RPL35[gene] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	LOC130003073, LOC130003074 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130002603, LOC130002604 +1210 more	Copy number gain	See cases	GPathogenic
Select item 153090	GRCh38/hg38 9q33.2-33.3(chr9:123095598-126693843)x1	ADGRD2, ARPC5L +172 more	Copy number loss	See cases	GPathogenic
Select item 1280695	NM_001045476.3(WDR38):c.*232A>G	RPL35, WDR38	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3048601	NM_007209.4(RPL35):c.*9T>G	RPL35	Single nucleotide variant (3 prime UTR variant)	RPL35-related condition	GLikely benign
Select item 2847890	NM_007209.4(RPL35):c.362T>G (p.Val121Gly)	RPL35 (V121G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873441	NM_007209.4(RPL35):c.360G>T (p.Ala120=)	RPL35	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068782	NM_007209.4(RPL35):c.360G>A (p.Ala120=)	RPL35	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2143417	NM_007209.4(RPL35):c.359C>T (p.Ala120Val)	RPL35 (A120V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2478509	NM_007209.4(RPL35):c.358G>T (p.Ala120Ser)	RPL35 (A120S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2063645	NM_007209.4(RPL35):c.357C>T (p.Tyr119=)	RPL35	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1941907	NM_007209.4(RPL35):c.350G>A (p.Arg117Gln)	RPL35 (R117Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919291	NM_007209.4(RPL35):c.349C>A (p.Arg117=)	RPL35	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721784	NM_007209.4(RPL35):c.345G>A (p.Pro115=)	RPL35	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2047062	NM_007209.4(RPL35):c.344C>T (p.Pro115Leu)	RPL35 (P115L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2421494	NM_007209.4(RPL35):c.335G>A (p.Arg112Gln)	RPL35 (R112Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957261	NM_007209.4(RPL35):c.326G>A (p.Arg109Gln)	RPL35 (R109Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907632	NM_007209.4(RPL35):c.326G>T (p.Arg109Leu)	RPL35 (R109L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883015	NM_007209.4(RPL35):c.316A>C (p.Lys106Gln)	RPL35 (K106Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 731009	NM_007209.4(RPL35):c.301A>C (p.Asn101His)	RPL35 (N101H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3032762	NM_007209.4(RPL35):c.294C>A (p.His98Gln)	RPL35 (H98Q)	Single nucleotide variant (missense variant)	RPL35-related condition	GUncertain significance
Select item 2722653	NM_007209.4(RPL35):c.294C>G (p.His98Gln)	RPL35 (H98Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 745951	NM_007209.4(RPL35):c.294C>T (p.His98=)	RPL35	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901784	NM_007209.4(RPL35):c.281G>A (p.Arg94Gln)	RPL35 (R94Q)	Single nucleotide variant (missense variant)	RPL35-related condition +1 more	GLikely benign
Select item 2067068	NM_007209.4(RPL35):c.280C>T (p.Arg94Trp)	RPL35 (R94W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2869492	NM_007209.4(RPL35):c.277C>T (p.Arg93Cys)	RPL35 (R93C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064524	NM_007209.4(RPL35):c.276C>T (p.Arg92=)	RPL35	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783518	NM_007209.4(RPL35):c.267T>C (p.Arg89=)	RPL35	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814746	NM_007209.4(RPL35):c.264A>G (p.Thr88=)	RPL35	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898928	NM_007209.4(RPL35):c.252G>T (p.Arg84=)	RPL35	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2443247	NM_007209.4(RPL35):c.250C>T (p.Arg84Trp)	RPL35 (R84W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 617672	NM_007209.4(RPL35):c.231G>C (p.Lys77Asn)	RPL35 (K77N)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 19	GPathogenic
Select item 2114475	NM_007209.4(RPL35):c.223-3C>T	RPL35	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2968669	NM_007209.4(RPL35):c.223-7C>T	RPL35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2034532	NM_007209.4(RPL35):c.223-9G>A	RPL35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 731615	NM_007209.4(RPL35):c.223-10T>C	RPL35	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1974140	NM_007209.4(RPL35):c.223-13G>A	RPL35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2028701	NM_007209.4(RPL35):c.223-14C>T	RPL35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226598	NM_007209.4(RPL35):c.223-136_223-135del	RPL35	Deletion (intron variant)	not provided	GBenign
Select item 2123297	NM_007209.4(RPL35):c.222G>A (p.Lys74=)	RPL35	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2892069	NM_007209.4(RPL35):c.172C>G (p.Leu58Val)	RPL35 (L58V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877741	NM_007209.4(RPL35):c.160A>G (p.Ile54Val)	RPL35 (I54V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2139672	NM_007209.4(RPL35):c.141C>G (p.Ile47Met)	RPL35 (I47M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2873755	NM_007209.4(RPL35):c.140+15C>G	RPL35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871003	NM_007209.4(RPL35):c.140+11C>T	RPL35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2118900	NM_007209.4(RPL35):c.111A>G (p.Thr37=)	RPL35	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2761888	NM_007209.4(RPL35):c.104A>G (p.Lys35Arg)	RPL35 (K35R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971142	NM_007209.4(RPL35):c.96C>T (p.Arg32=)	RPL35	Single nucleotide variant (synonymous variant)	RPL35-related condition +1 more	GBenign/Likely benign
Select item 2872126	NM_007209.4(RPL35):c.95G>A (p.Arg32His)	RPL35 (R32H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971300	NM_007209.4(RPL35):c.84G>A (p.Leu28=)	RPL35	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872979	NM_007209.4(RPL35):c.82C>T (p.Leu28=)	RPL35	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808170	NM_007209.4(RPL35):c.69C>T (p.Asp23=)	RPL35	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973975	NM_007209.4(RPL35):c.48G>C (p.Glu16Asp)	RPL35 (E16D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974422	NM_007209.4(RPL35):c.30C>G (p.Arg10=)	RPL35	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788128	NM_007209.4(RPL35):c.25C>T (p.Leu9Phe)	RPL35 (L9F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879371	NM_007209.4(RPL35):c.12C>A (p.Ile4=)	RPL35	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874699	NM_007209.4(RPL35):c.4-17CT[2]	RPL35	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1971965	NM_007209.4(RPL35):c.4-17CT[3]	RPL35	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1238649	NM_007209.4(RPL35):c.4-22G>C	RPL35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2804802	NM_007209.4(RPL35):c.3+18G>C	RPL35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872813	NM_007209.4(RPL35):c.3+16T>A	RPL35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873346	NM_007209.4(RPL35):c.3+3G>A	RPL35	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1268124	NC_000009.12:g.124862127C>T	RPL35	Single nucleotide variant	not provided	GBenign
Select item 3063097	GRCh37/hg19 9q33.3(chr9:127471268-127701091)x3	ARPC5L, GOLGA1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 1808695	GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1	ADGRD2, ANGPTL2 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	SUSD3, SVEP1 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	PPP1R26, PPP3R2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 86