Related gene-specific medical variations for Gene (Select 388650) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3029763	NM_000969.5(RPL5):c.285T>C (p.Tyr95=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	RPL5-related condition	GLikely benign
Select item 3026911	NM_000969.5(RPL5):c.516dup (p.Ile173fs)	DIPK1A, RPL5 (I173fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 3021892	NM_000969.5(RPL5):c.4-7C>T	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 3019987	NM_000969.5(RPL5):c.831G>T (p.Lys277Asn)	RPL5, DIPK1A (K277N)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 3013426	NM_000969.5(RPL5):c.761A>G (p.Glu254Gly)	DIPK1A, RPL5 (E254G)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 3008911	NM_000969.5(RPL5):c.858C>T (p.Ser286=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2995719	NM_000969.5(RPL5):c.6G>A (p.Gly2=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia	GLikely benign
Select item 2995498	NM_000969.5(RPL5):c.294A>G (p.Ala98=)	RPL5, DIPK1A	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia	GLikely benign
Select item 2973960	NM_000969.5(RPL5):c.415C>T (p.Pro139Ser)	DIPK1A, RPL5 (P139S)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2972079	NM_000969.5(RPL5):c.598A>G (p.Met200Val)	DIPK1A, RPL5 (M200V)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2971992	NM_000969.5(RPL5):c.190-10C>T	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2919154	NM_000969.5(RPL5):c.234G>A (p.Ala78=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia	GLikely benign
Select item 2915334	NM_000969.5(RPL5):c.4-1G>A	DIPK1A, RPL5	Single nucleotide variant (splice acceptor variant +1 more)	Diamond-Blackfan anemia	GLikely pathogenic
Select item 2912430	NM_000969.5(RPL5):c.399A>G (p.Glu133=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia	GLikely benign
Select item 2906460	NM_000969.5(RPL5):c.192T>G (p.Ile64Met)	DIPK1A, RPL5 (I64M)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2905794	NM_000969.5(RPL5):c.325-14G>A	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2901879	NM_000969.5(RPL5):c.74-7C>T	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2901287	NM_000969.5(RPL5):c.367G>C (p.Val123Leu)	DIPK1A, RPL5 (V123L)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2900360	NM_000969.5(RPL5):c.74-8dup	DIPK1A, RPL5	Duplication (intron variant)	Diamond-Blackfan anemia	GBenign
Select item 2896627	NM_000969.5(RPL5):c.856A>G (p.Ser286Gly)	DIPK1A, RPL5 (S286G)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2893796	NM_000969.5(RPL5):c.527+20C>T	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2886844	NM_000969.5(RPL5):c.528-17G>A	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2880214	NM_000969.5(RPL5):c.586C>T (p.Arg196Trp)	DIPK1A, RPL5 (R196W)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2879661	NM_000969.5(RPL5):c.190-18G>C	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2849253	NM_000969.5(RPL5):c.614C>G (p.Ala205Gly)	DIPK1A, RPL5 (A205G)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2849121	NM_000969.5(RPL5):c.443C>T (p.Ala148Val)	DIPK1A, RPL5 (A148V)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2827851	NM_000969.5(RPL5):c.705+4A>G	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2822512	NM_000969.5(RPL5):c.391A>G (p.Asn131Asp)	DIPK1A, RPL5 (N131D)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2810782	NM_000969.5(RPL5):c.272del (p.Gly91fs)	DIPK1A, RPL5 (G91fs)	Deletion (frameshift variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 2806717	NM_000969.5(RPL5):c.706-10T>C	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2802029	NM_000969.5(RPL5):c.190-6C>A	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2801405	NM_000969.5(RPL5):c.601G>A (p.Gly201Ser)	DIPK1A, RPL5 (G201S)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2797783	NM_000969.5(RPL5):c.705G>A (p.Met235Ile)	DIPK1A, RPL5 (M235I)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2778459	NM_000969.5(RPL5):c.190-18G>T	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2777406	NM_000969.5(RPL5):c.785A>G (p.Lys262Arg)	DIPK1A, RPL5 (K262R)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2770706	NM_000969.5(RPL5):c.73+10C>T	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2766031	NM_000969.5(RPL5):c.115_121del (p.Gln39fs)	DIPK1A, RPL5 (Q39fs)	Deletion (frameshift variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 2761597	NM_000969.5(RPL5):c.161G>C (p.Arg54Pro)	DIPK1A, RPL5 (R54P)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2761090	NM_000969.5(RPL5):c.198T>C (p.Tyr66=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia	GLikely benign
Select item 2751098	NM_000969.5(RPL5):c.332A>G (p.Asn111Ser)	DIPK1A, RPL5 (N111S)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2743358	NM_000969.5(RPL5):c.78T>G (p.Gly26=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia	GLikely benign
Select item 2740394	NM_000969.5(RPL5):c.189+5G>A	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2733794	NM_000969.5(RPL5):c.703A>G (p.Met235Val)	DIPK1A, RPL5 (M235V)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2731071	NM_000969.5(RPL5):c.795-14C>A	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2730891	NM_000969.5(RPL5):c.71del (p.Arg24fs)	DIPK1A, RPL5 (R24fs)	Deletion (frameshift variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 2726991	NM_000969.5(RPL5):c.427A>G (p.Thr143Ala)	DIPK1A, RPL5 (T143A)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2725094	NM_000969.5(RPL5):c.626G>T (p.Arg209Leu)	DIPK1A, RPL5 (R209L)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2723839	NM_000969.5(RPL5):c.788A>G (p.Lys263Arg)	DIPK1A, RPL5 (K263R)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2718547	NM_000969.5(RPL5):c.4-17A>T	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2718228	NM_000969.5(RPL5):c.576A>G (p.Ala192=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia	GLikely benign
Select item 2717636	NM_000969.5(RPL5):c.651T>C (p.Asp217=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia	GLikely benign
Select item 2715076	NM_000969.5(RPL5):c.527+7A>T	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2713365	NM_000969.5(RPL5):c.889A>C (p.Ser297Arg)	DIPK1A, RPL5 (S297R)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2706503	NM_000969.5(RPL5):c.190-3T>C	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2694687	NM_000969.5(RPL5):c.744A>G (p.Arg248=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia	GLikely benign
Select item 2690941	NM_000969.5(RPL5):c.236del (p.Tyr79fs)	DIPK1A, RPL5 (Y79fs)	Deletion (frameshift variant +2 more)	Diamond-Blackfan anemia 6	GPathogenic
Select item 2689884	NM_000969.5(RPL5):c.208G>A (p.Glu70Lys)	DIPK1A, RPL5 (E70K)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia 6	GUncertain significance
Select item 2633707	NM_000969.5(RPL5):c.89_107del (p.Tyr30fs)	DIPK1A, RPL5 (Y30fs)	Deletion (frameshift variant +2 more)	RPL5-related condition	GLikely pathogenic
Select item 2631122	NM_000969.5(RPL5):c.73+4C>G	DIPK1A, RPL5	Single nucleotide variant (intron variant)	RPL5-related condition	GUncertain significance
Select item 2581907	NM_000969.5(RPL5):c.474A>C (p.Lys158Asn)	DIPK1A, RPL5 (K158N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2580676	NM_000969.5(RPL5):c.484G>T (p.Ala162Ser)	DIPK1A, RPL5 (A162S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2578577	NM_000969.5(RPL5):c.527+1_527+2delinsTG	DIPK1A, RPL5	Indel (splice donor variant +1 more)	not provided	GPathogenic
Select item 2503388	NM_000969.5(RPL5):c.46_47del (p.Tyr16fs)	DIPK1A, RPL5 (Y16fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2435477	NM_000969.5(RPL5):c.715A>G (p.Met239Val)	DIPK1A, RPL5 (M239V)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia 6	GConflicting classifications of pathogenicity
Select item 2435476	NM_000969.5(RPL5):c.236A>T (p.Tyr79Phe)	DIPK1A, RPL5 (Y79F)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia 6	GUncertain significance
Select item 2430596	NM_000969.5(RPL5):c.68G>A (p.Arg23Gln)	DIPK1A, RPL5 (R23Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2426761	NM_000969.5(RPL5):c.335G>A (p.Arg112Lys)	DIPK1A, RPL5 (R112K)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2420967	NM_000969.5(RPL5):c.567A>C (p.Glu189Asp)	DIPK1A, RPL5 (E189D)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2203021	NM_000969.5(RPL5):c.566A>G (p.Glu189Gly)	DIPK1A, RPL5 (E189G)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2202777	NM_000969.5(RPL5):c.173del (p.Arg58fs)	DIPK1A, RPL5 (R58fs)	Deletion (frameshift variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 2202564	NM_000969.5(RPL5):c.779A>C (p.Glu260Ala)	DIPK1A, RPL5 (E260A)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2199704	NM_000969.5(RPL5):c.138A>C (p.Thr46=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia	GLikely benign
Select item 2192199	NM_000969.5(RPL5):c.4-9T>C	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2189513	NM_000969.5(RPL5):c.319C>T (p.Arg107Cys)	RPL5, DIPK1A (R107C)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2183536	NM_000969.5(RPL5):c.233C>G (p.Ala78Gly)	DIPK1A, RPL5 (A78G)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2182554	NM_000969.5(RPL5):c.324+8C>A	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2172878	NM_000969.5(RPL5):c.393T>C (p.Asn131=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia	GLikely benign
Select item 2172701	NM_000969.5(RPL5):c.220A>G (p.Ile74Val)	RPL5, DIPK1A (I74V)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2166527	NM_000969.5(RPL5):c.891C>A (p.Ser297Arg)	DIPK1A, RPL5 (S297R)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2160898	NM_000969.5(RPL5):c.257A>G (p.Tyr86Cys)	RPL5, DIPK1A (Y86C)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2159322	NM_000969.5(RPL5):c.479_480del (p.Phe160fs)	DIPK1A, RPL5 (F160fs)	Deletion (frameshift variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 2156930	NM_000969.5(RPL5):c.179T>C (p.Ile60Thr)	DIPK1A, RPL5 (I60T)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2154189	NM_000969.5(RPL5):c.527+14_527+17dup	DIPK1A, RPL5	Duplication (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2148136	NM_000969.5(RPL5):c.377C>T (p.Thr126Ile)	DIPK1A, RPL5 (T126I)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2145101	NM_000969.5(RPL5):c.528-20T>C	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2141474	NM_000969.5(RPL5):c.877C>T (p.Arg293Trp)	DIPK1A, RPL5 (R293W)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2108586	NM_000969.5(RPL5):c.448C>T (p.Leu150Phe)	DIPK1A, RPL5 (L150F)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2103970	NM_000969.5(RPL5):c.854C>A (p.Ala285Glu)	DIPK1A, RPL5 (A285E)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2097197	NM_000969.5(RPL5):c.631T>A (p.Leu211Ile)	DIPK1A, RPL5 (L211I)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2079538	NM_000969.5(RPL5):c.73+9dup	RPL5, DIPK1A	Duplication (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2073214	NM_000969.5(RPL5):c.583C>A (p.His195Asn)	DIPK1A, RPL5 (H195N)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2058716	NM_000969.5(RPL5):c.706-13T>A	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2043156	NM_000969.5(RPL5):c.695C>T (p.Thr232Ile)	DIPK1A, RPL5 (T232I)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2033977	NM_000969.5(RPL5):c.74-2del	DIPK1A, RPL5	Deletion (splice acceptor variant +1 more)	Diamond-Blackfan anemia	GLikely pathogenic
Select item 2019799	NM_000969.5(RPL5):c.215_218del (p.Asp72fs)	DIPK1A, RPL5 (D72fs)	Deletion (frameshift variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 2018732	NM_000969.5(RPL5):c.72A>G (p.Arg24=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia 6 +1 more	GConflicting classifications of pathogenicity
Select item 2018514	NM_000969.5(RPL5):c.795-14C>G	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1994683	NM_000969.5(RPL5):c.232G>A (p.Ala78Thr)	DIPK1A, RPL5 (A78T)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 1979006	NM_000969.5(RPL5):c.549T>C (p.Tyr183=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia	GLikely benign
Select item 1962382	NM_000969.5(RPL5):c.556G>C (p.Glu186Gln)	DIPK1A, RPL5 (E186Q)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance

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