RPL35A[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 172

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 57997	GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	ACAP2, APOD +411 more	Copy number gain	See cases	GPathogenic
Select item 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	LOC126806930, LOC126806931 +375 more	Copy number gain	See cases	GPathogenic
Select item 148761	GRCh38/hg38 3q29(chr3:192752937-198118383)x3	ACAP2, APOD +337 more	Copy number gain	See cases	GPathogenic
Select item 155434	GRCh38/hg38 3q29(chr3:193704605-198125115)x3	TM4SF19-DYNLT2B, TMEM44 +313 more	Copy number gain	See cases	GPathogenic
Select item 149477	GRCh38/hg38 3q29(chr3:194296197-198110198)x3	ACAP2, APOD +273 more	Copy number gain	See cases	GPathogenic
Select item 58000	GRCh38/hg38 3q29(chr3:194424496-198168758)x3	RUBCN, SENP5 +264 more	Copy number gain	See cases	GPathogenic
Select item 148016	GRCh38/hg38 3q29(chr3:195711798-198110178)x3	BDH1, CEP19 +169 more	Copy number gain	See cases	GPathogenic
Select item 59685	GRCh38/hg38 3q29(chr3:195711798-197976152)x3	LOC129938284, LOC129938285 +166 more	Copy number gain	See cases	GUncertain significance
Select item 59686	GRCh38/hg38 3q29(chr3:195896948-198110178)x3	BDH1, CEP19 +155 more	Copy number gain	See cases	GUncertain significance
Select item 153416	GRCh38/hg38 3q29(chr3:196418334-198125115)x3	BDH1, CEP19 +102 more	Copy number gain	See cases	GUncertain significance
Select item 2579209	GRCh38/hg38 3q29(chr3:197681032-198111976)x1	FYTTD1, IQCG +27 more	Copy number loss	Diamond-Blackfan anemia 5	GPathogenic
Select item 150783	GRCh38/hg38 3q29(chr3:197862644-198110198)x3	IQCG, LMLN +11 more	Copy number gain	See cases	GBenign
Select item 146856	GRCh38/hg38 3q29(chr3:197862644-198021643)x3	IQCG, LMLN +9 more	Copy number gain	See cases	GBenign
Select item 144420	GRCh38/hg38 3q29(chr3:197941928-198110178)x3	IQCG, LMLN +7 more	Copy number gain	See cases	GBenign
Select item 344524	NM_000996.4(RPL35A):c.-37T>G	IQCG, RPL35A	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 344525	NM_000996.4(RPL35A):c.-33G>A	IQCG, RPL35A	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 517048	NM_000996.4(RPL35A):c.-33+16G>C	IQCG, RPL35A	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1297422	NM_000996.4(RPL35A):c.-32-141G>A	IQCG, RPL35A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 344526	NM_000996.4(RPL35A):c.-32-3A>G	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GBenign
Select item 2435475	NM_000996.4(RPL35A):c.-32-2A>T	IQCG, RPL35A	Single nucleotide variant (intron variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 344527	NM_000996.4(RPL35A):c.-31C>T	IQCG, RPL35A	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 647968	NC_000003.12:g.(?_197950958)_(197955783_?)del	IQCG, RPL35A	Deletion	Diamond-Blackfan anemia 5	GPathogenic
Select item 469500	NC_000003.12:g.(?_197950962)_(197955779_?)del	IQCG, RPL35A	Deletion	Diamond-Blackfan anemia 5	GPathogenic
Select item 2689883	NM_000996.4(RPL35A):c.11+3A>G	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 3014340	NM_000996.4(RPL35A):c.11+4C>T	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 3013668	NM_000996.4(RPL35A):c.11+6C>A	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 1597053	NM_000996.4(RPL35A):c.11+11T>C	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GLikely benign
Select item 1602324	NM_000996.4(RPL35A):c.11+17T>C	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GLikely benign
Select item 2916051	NM_000996.4(RPL35A):c.12-18G>T	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GLikely benign
Select item 1657303	NM_000996.4(RPL35A):c.12-18G>A	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GLikely benign
Select item 1670897	NM_000996.4(RPL35A):c.12-10del	IQCG, RPL35A	Deletion (intron variant)	Diamond-Blackfan anemia 5	GBenign
Select item 1643217	NM_000996.4(RPL35A):c.12-13T>A	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GLikely benign
Select item 1079102	NM_000996.4(RPL35A):c.12-7G>T	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GLikely benign
Select item 2733633	NM_000996.4(RPL35A):c.12-5C>T	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GLikely benign
Select item 1015847	NM_000996.4(RPL35A):c.12-5C>G	IQCG, RPL35A	Single nucleotide variant (intron variant)	RPL35A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2190254	NM_000996.4(RPL35A):c.12-4T>G	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GLikely benign
Select item 2435474	NM_000996.4(RPL35A):c.16T>C (p.Trp6Arg)	IQCG, RPL35A (W6R)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 344528	NM_000996.4(RPL35A):c.21C>T (p.Ser7=)	IQCG, RPL35A	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia +4 more	GBenign/Likely benign
Select item 1443120	NM_000996.4(RPL35A):c.28A>G (p.Ile10Val)	IQCG, RPL35A (I10V)	Single nucleotide variant (missense variant +1 more)	RPL35A-related disorder +1 more	GUncertain significance
Select item 1614741	NM_000996.4(RPL35A):c.33T>C (p.Phe11=)	IQCG, RPL35A	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia 5	GLikely benign
Select item 942903	NM_000996.4(RPL35A):c.34G>A (p.Ala12Thr)	IQCG, RPL35A (A12T)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 1407481	NM_000996.4(RPL35A):c.35C>T (p.Ala12Val)	IQCG, RPL35A (A12V)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 997559	NM_000996.4(RPL35A):c.41A>T (p.Tyr14Phe)	IQCG, RPL35A (Y14F)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 2917503	NM_000996.4(RPL35A):c.44A>G (p.Lys15Arg)	IQCG, RPL35A (K15R)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 901001	NM_000996.4(RPL35A):c.55C>T (p.Arg19Trp)	RPL35A, IQCG (R19W)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 1117382	NM_000996.4(RPL35A):c.57G>A (p.Arg19=)	IQCG, RPL35A	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia 5	GLikely benign
Select item 1379208	NM_000996.4(RPL35A):c.59A>G (p.Asn20Ser)	IQCG, RPL35A (N20S)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 1534091	NM_000996.4(RPL35A):c.75A>G (p.Thr25=)	IQCG, RPL35A	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia 5	GLikely benign
Select item 1480694	NM_000996.4(RPL35A):c.77C>T (p.Ala26Val)	IQCG, RPL35A (A26V)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 13002	NM_000996.4(RPL35A):c.79CTT[1] (p.Leu28del)	IQCG, RPL35A (L28del)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3008634	NM_000996.4(RPL35A):c.85A>G (p.Lys29Glu)	IQCG, RPL35A (K29E)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 1008059	NM_000996.4(RPL35A):c.89T>C (p.Ile30Thr)	IQCG, RPL35A (I30T)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GLikely pathogenic
Select item 1535690	NM_000996.4(RPL35A):c.90T>C (p.Ile30=)	IQCG, RPL35A	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia 5	GLikely benign
Select item 13001	NM_000996.4(RPL35A):c.97G>A (p.Val33Ile)	IQCG, RPL35A (V33I)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GPathogenic
Select item 1519866	NM_000996.4(RPL35A):c.101A>T (p.Tyr34Phe)	IQCG, RPL35A (Y34F)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 2740918	NM_000996.4(RPL35A):c.105C>T (p.Ala35=)	IQCG, RPL35A	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia 5	GLikely benign
Select item 1377205	NM_000996.4(RPL35A):c.109G>A (p.Asp37Asn)	IQCG, RPL35A (D37N)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 1060385	NM_000996.4(RPL35A):c.113A>G (p.Glu38Gly)	IQCG, RPL35A (E38G)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 583098	NM_000996.4(RPL35A):c.118_119del (p.Glu40fs)	IQCG, RPL35A (E40fs)	Deletion (frameshift variant +1 more)	Diamond-Blackfan anemia +1 more	GPathogenic
Select item 3066366	NM_000996.4(RPL35A):c.125A>T (p.Tyr42Phe)	IQCG, RPL35A (Y42F)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 1723464	NM_000996.4(RPL35A):c.125A>G (p.Tyr42Cys)	IQCG, RPL35A (Y42C)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia +2 more	GConflicting classifications of pathogenicity
Select item 2741212	NM_000996.4(RPL35A):c.138A>G (p.Arg46=)	IQCG, RPL35A	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 1772215	NM_000996.4(RPL35A):c.141C>G (p.Cys47Trp)	IQCG, RPL35A (C47W)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 1634337	NM_000996.4(RPL35A):c.141C>T (p.Cys47=)	IQCG, RPL35A	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia 5	GLikely benign
Select item 2747077	NM_000996.4(RPL35A):c.147del (p.Ala48_Tyr49insTer)	IQCG, RPL35A	Deletion (nonsense +1 more)	Diamond-Blackfan anemia 5	GPathogenic
Select item 2070883	NM_000996.4(RPL35A):c.147T>C (p.Tyr49=)	IQCG, RPL35A	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia 5	GLikely benign
Select item 2173792	NM_000996.4(RPL35A):c.158C>G (p.Ala53Gly)	IQCG, RPL35A (A53G)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 2963156	NM_000996.4(RPL35A):c.162G>T (p.Lys54Asn)	IQCG, RPL35A (K54N)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 843293	NM_000996.4(RPL35A):c.164+1G>A	IQCG, RPL35A	Single nucleotide variant (intron variant +1 more)	Diamond-Blackfan anemia 5	GLikely pathogenic
Select item 1557951	NM_000996.4(RPL35A):c.164+13C>T	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GLikely benign
Select item 2053172	NM_000996.4(RPL35A):c.164+15C>T	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GLikely benign
Select item 1559236	NM_000996.4(RPL35A):c.164+15C>G	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GLikely benign
Select item 1541932	NM_000996.4(RPL35A):c.164+18G>A	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GLikely benign
Select item 2047293	NM_000996.4(RPL35A):c.165-20C>T	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GLikely benign
Select item 1777261	NM_000996.4(RPL35A):c.165-16_166del	IQCG, RPL35A	Deletion (intron variant +1 more)	Diamond-Blackfan anemia	GLikely pathogenic
Select item 1562682	NM_000996.4(RPL35A):c.165-16C>A	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GLikely benign
Select item 2121555	NM_000996.4(RPL35A):c.165-15C>G	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GLikely benign
Select item 1134663	NM_000996.4(RPL35A):c.183C>T (p.Gly61=)	IQCG, RPL35A	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia 5	GLikely benign
Select item 2084325	NM_000996.4(RPL35A):c.184G>A (p.Gly62Ser)	IQCG, RPL35A (G62S)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 698037	NM_000996.4(RPL35A):c.184G>T (p.Gly62Cys)	IQCG, RPL35A (G62C)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GLikely benign
Select item 2024679	NM_000996.4(RPL35A):c.186C>T (p.Gly62=)	IQCG, RPL35A	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia 5	GLikely benign
Select item 1704655	NM_000996.4(RPL35A):c.196A>C (p.Lys66Gln)	IQCG, RPL35A (K66Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3007620	NM_000996.4(RPL35A):c.202A>G (p.Arg68Gly)	IQCG, RPL35A (R68G)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 2733035	NM_000996.4(RPL35A):c.204A>G (p.Arg68=)	IQCG, RPL35A	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia 5 +1 more	GLikely benign
Select item 2955680	NM_000996.4(RPL35A):c.209T>C (p.Ile70Thr)	IQCG, RPL35A (I70T)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 537236	NM_000996.4(RPL35A):c.212G>A (p.Trp71Ter)	IQCG, RPL35A (W71*)	Single nucleotide variant (nonsense +1 more)	Diamond-Blackfan anemia 5	GPathogenic
Select item 1788920	NM_000996.4(RPL35A):c.227G>C (p.Arg76Pro)	IQCG, RPL35A (R76P)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 1788913	NM_000996.4(RPL35A):c.227G>A (p.Arg76Gln)	IQCG, RPL35A (R76Q)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 1792520	NM_000996.4(RPL35A):c.251T>A (p.Val84Asp)	IQCG, RPL35A (V84D)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GUncertain significance

<< First< Prev

Page of 2