ClinVar for MedGen (Select 382705) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362486	NM_000996.4(RPL35A):c.41A>G (p.Tyr14Cys)	IQCG, RPL35A (Y14C)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 3246902	NC_000003.11:g.(?_197677839)_(197681038_?)dup	IQCG, RPL35A	Duplication	Diamond-Blackfan anemia 5	GUncertain significance
Select item 3246901	NC_000003.11:g.(?_197677839)_(197678192_?)dup	IQCG, RPL35A	Duplication	Diamond-Blackfan anemia 5	GUncertain significance
Select item 3246900	NC_000003.11:g.(?_197677839)_(197677849_?)dup	IQCG, RPL35A	Duplication	Diamond-Blackfan anemia 5	GUncertain significance
Select item 3246899	NC_000003.11:g.(?_197401889)_(197682644_?)del	FYTTD1, IQCG +3 more	Deletion	Diamond-Blackfan anemia 5	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 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 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 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 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 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 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 2916051	NM_000996.4(RPL35A):c.12-18G>T	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GLikely benign
Select item 2915897	NM_000996.4(RPL35A):c.332A>G (p.Ter111=)	IQCG, RPL35A	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia 5	GLikely benign
Select item 2906784	NM_000996.4(RPL35A):c.289A>G (p.Ile97Val)	IQCG, RPL35A (I97V)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 2882808	NM_000996.4(RPL35A):c.282T>G (p.Ala94=)	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 2742035	NM_000996.4(RPL35A):c.278C>T (p.Pro93Leu)	IQCG, RPL35A (P93L)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
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 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 2739828	NM_000996.4(RPL35A):c.301A>G (p.Ile101Val)	IQCG, RPL35A (I101V)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
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 2733035	NM_000996.4(RPL35A):c.204A>G (p.Arg68=)	IQCG, RPL35A	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia 5	GLikely benign
Select item 2727787	NM_000996.4(RPL35A):c.258C>A (p.Ala86=)	IQCG, RPL35A	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia 5	GLikely benign
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 2579209	GRCh38/hg38 3q29(chr3:197681032-198111976)x1	FYTTD1, IQCG +27 more	Copy number loss	Diamond-Blackfan anemia 5	GPathogenic
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 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 2423447	NC_000003.11:g.(?_197680864)_(197682644_?)del	IQCG, RPL35A	Deletion	Diamond-Blackfan anemia 5	GLikely pathogenic
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 2187308	NM_000996.4(RPL35A):c.253C>T (p.Arg85Cys)	IQCG, RPL35A (R85C)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
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 2163177	NM_000996.4(RPL35A):c.309+3G>C	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 2143817	NM_000996.4(RPL35A):c.321C>T (p.Pro107=)	IQCG, RPL35A	Single nucleotide variant (synonymous variant +1 more)	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 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 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 2053172	NM_000996.4(RPL35A):c.164+15C>T	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 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 1927128	NM_000996.4(RPL35A):c.309+7A>G	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GLikely benign
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 5 +2 more	GConflicting classifications of pathogenicity
Select item 1670897	NM_000996.4(RPL35A):c.12-10del	IQCG, RPL35A	Deletion (intron variant)	Diamond-Blackfan anemia 5	GBenign
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 1653086	NM_000996.4(RPL35A):c.327G>A (p.Arg109=)	IQCG, RPL35A	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia 5	GLikely benign
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 1639930	NM_000996.4(RPL35A):c.324A>G (p.Ser108=)	IQCG, RPL35A	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia 5	GLikely benign
Select item 1636708	NM_000996.4(RPL35A):c.310-20G>C	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GLikely benign
Select item 1634422	NM_000996.4(RPL35A):c.310-20G>A	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GLikely benign
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 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 1611241	NM_000996.4(RPL35A):c.310-6del	IQCG, RPL35A	Deletion (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 1597053	NM_000996.4(RPL35A):c.11+11T>C	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GLikely benign
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 1559236	NM_000996.4(RPL35A):c.164+15C>G	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GLikely benign
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 1541932	NM_000996.4(RPL35A):c.164+18G>A	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GLikely benign
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 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 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 1500352	NM_000996.4(RPL35A):c.253C>G (p.Arg85Gly)	IQCG, RPL35A (R85G)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 1490681	NM_000996.4(RPL35A):c.270C>T (p.Ser90=)	IQCG, RPL35A	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
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 1463153	NM_000996.4(RPL35A):c.320C>T (p.Pro107Leu)	IQCG, RPL35A (P107L)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
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 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 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 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 1169618	NM_000996.4(RPL35A):c.282T>C (p.Ala94=)	RPL35A, IQCG	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia +1 more	GBenign/Likely 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 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 1079102	NM_000996.4(RPL35A):c.12-7G>T	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GLikely benign
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 1015847	NM_000996.4(RPL35A):c.12-5C>G	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +1 more	GConflicting classifications of pathogenicity
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 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 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 901558	NM_000996.4(RPL35A):c.*21T>A	IQCG, RPL35A	Single nucleotide variant (3 prime UTR variant +1 more)	Diamond-Blackfan anemia 5	GLikely benign
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 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 830931	NC_000003.12:g.(?_197950968)_(197955773_?)dup	IQCG, RPL35A	Duplication	Diamond-Blackfan anemia 5	GUncertain significance
Select item 830433	NC_000003.12:g.(?_197950958)_(197955783_?)dup	IQCG, RPL35A	Duplication	Diamond-Blackfan anemia 5	GUncertain significance
Select item 807674	NM_000996.4(RPL35A):c.258del (p.Lys87fs)	RPL35A, IQCG (K87fs)	Deletion (frameshift variant +1 more)	Diamond-Blackfan anemia 5	GPathogenic
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 647968	NC_000003.12:g.(?_197950958)_(197955783_?)del	IQCG, RPL35A	Deletion	Diamond-Blackfan anemia 5	GPathogenic
Select item 583098	NM_000996.4(RPL35A):c.118_119del (p.Glu40fs)	IQCG, RPL35A (E40fs)	Deletion (frameshift variant +1 more)	Diamond-Blackfan anemia 5 +1 more	GPathogenic
Select item 574750	NM_000996.4(RPL35A):c.271A>G (p.Asn91Asp)	IQCG, RPL35A (N91D)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5	GUncertain significance
Select item 572707	NM_000996.4(RPL35A):c.309+4A>T	IQCG, RPL35A	Single nucleotide variant (intron variant)	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 469500	NC_000003.12:g.(?_197950962)_(197955779_?)del	IQCG, RPL35A	Deletion	Diamond-Blackfan anemia 5	GPathogenic
Select item 344531	NM_000996.4(RPL35A):c.*14C>A	IQCG, RPL35A	Single nucleotide variant (3 prime UTR variant +1 more)	Diamond-Blackfan anemia 5 +2 more	GBenign/Likely benign
Select item 344530	NM_000996.4(RPL35A):c.*6C>T	IQCG, RPL35A	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 344529	NM_000996.4(RPL35A):c.266G>A (p.Arg89Gln)	IQCG, RPL35A (R89Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 344528	NM_000996.4(RPL35A):c.21C>T (p.Ser7=)	IQCG, RPL35A	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia 5 +3 more	GBenign/Likely benign
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 344526	NM_000996.4(RPL35A):c.-32-3A>G	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5	GBenign
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 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

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