ClinVar for MedGen (Select 266045) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248435	NC_000019.9:g.(?_42373081)_(42373843_?)del	RPS19	Deletion	Diamond-Blackfan anemia	GPathogenic
Select item 3247719	NC_000001.10:g.(?_23395012)_(24673151_?)del	ASAP3, CNR2 +22 more	Deletion	Diamond-Blackfan anemia	GPathogenic
Select item 3247718	NC_000001.10:g.(?_91726847)_(93307422_?)dup	BRDT, BTBD8 +12 more	Duplication	Diamond-Blackfan anemia	GUncertain significance
Select item 3245986	NC_000006.11:g.(?_34385283)_(34386211_?)dup	RPS10	Duplication	Diamond-Blackfan anemia	GUncertain significance
Select item 3236682	NM_001022.4(RPS19):c.362G>T (p.Arg121Leu)	RPS19 (R121L)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GLikely pathogenic
Select item 3236681	NM_001022.4(RPS19):c.353A>G (p.Asp118Gly)	MIR6797, RPS19 (D118G)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia +1 more	GLikely pathogenic
Select item 3236680	NM_001022.4(RPS19):c.188A>C (p.His63Pro)	RPS19 (H63P)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 3233359	NM_001035006.5(RPL17):c.217-3C>G	RPL17, RPL17-C18orf32	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely pathogenic
Select item 3232372	NM_001029.5(RPS26):c.99C>T (p.Asp33=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 3232371	NM_001029.5(RPS26):c.19_25dup (p.Gly9fs)	RPS26 (G9fs)	Duplication (frameshift variant)	Diamond-Blackfan anemia	GPathogenic
Select item 3232365	NM_001022.4(RPS19):c.169G>C (p.Ala57Pro)	RPS19 (A57P)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GLikely pathogenic
Select item 3232363	NM_001021.6(RPS17):c.39C>T (p.Ala13=)	RPS17	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia	GLikely benign
Select item 3232358	NM_001014.5(RPS10):c.60C>G (p.Val20=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 3232357	NM_001011.4(RPS7):c.69C>T (p.Ile23=)	RPS7	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 3232325	NM_000969.5(RPL5):c.807C>A (p.Pro269=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia	GLikely benign
Select item 3156043	NM_001035006.5(RPL17):c.167A>T (p.Gln56Leu)	RPL17, RPL17-C18orf32 (Q18L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3023392	NM_001014.5(RPS10):c.291C>G (p.Ser97Arg)	RPS10, RPS10-NUDT3 (S97R)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 3023391	NM_001014.5(RPS10):c.293G>A (p.Arg98His)	RPS10, RPS10-NUDT3 (R98H)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 3023381	NM_001022.4(RPS19):c.342A>G (p.Glu114=)	RPS19 (K119E)	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia	GLikely benign
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 3021039	NM_000987.5(RPL26):c.45C>T (p.Arg15=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 3019987	NM_000969.5(RPL5):c.831G>T (p.Lys277Asn)	DIPK1A, RPL5 (K277N)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 3019220	NM_001014.5(RPS10):c.471T>A (p.Gly157=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia	GLikely benign
Select item 3016586	NM_001022.4(RPS19):c.182C>T (p.Ala61Val)	RPS19 (A61V)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 3015540	NM_001022.4(RPS19):c.172+17T>C	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
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 3006826	NM_033022.4(RPS24):c.156G>A (p.Pro52=)	RPS24	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 3003094	NM_000975.5(RPL11):c.437G>T (p.Arg146Leu)	RPL11 (R146L +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 3001723	NM_001022.4(RPS19):c.279C>T (p.Ser93=)	RPS19 (P98S)	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia	GLikely benign
Select item 2997212	NM_001022.4(RPS19):c.173-6C>T	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2996526	NM_000975.5(RPL11):c.264+16del	RPL11	Deletion (intron variant)	Diamond-Blackfan anemia	GLikely benign
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=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia	GLikely benign
Select item 2994422	NM_000975.5(RPL11):c.6+10T>A	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2991534	NM_001014.5(RPS10):c.322+17A>G	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2987325	NM_000975.5(RPL11):c.437G>A (p.Arg146His)	RPL11 (R146H +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2987313	NM_000987.5(RPL26):c.332T>C (p.Leu111Pro)	RPL26 (L111P)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2983392	NM_033022.4(RPS24):c.366G>A (p.Lys122=)	RPS24	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2974888	NM_000987.5(RPL26):c.416C>T (p.Thr139Ile)	RPL26 (T139I)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
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 2973066	NM_001022.4(RPS19):c.356+14delinsGG	RPS19	Indel (intron variant)	Diamond-Blackfan anemia	GBenign
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 2967935	NM_001022.4(RPS19):c.145G>C (p.Asp49His)	RPS19 (D49H)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2965432	NM_000987.5(RPL26):c.234T>C (p.Tyr78=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2963862	NM_001014.5(RPS10):c.106G>A (p.Ala36Thr)	RPS10, RPS10-NUDT3 (A36T)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2954514	NM_002049.4(GATA1):c.1168C>G (p.Pro390Ala)	GATA1 (P390A)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2954374	NM_002049.4(GATA1):c.1097G>T (p.Gly366Val)	GATA1 (G366V)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2954020	NM_002049.4(GATA1):c.580C>G (p.Leu194Val)	GATA1 (L194V)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2953562	NM_002049.4(GATA1):c.623G>C (p.Gly208Ala)	GATA1 (G208A)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2953110	NM_002049.4(GATA1):c.345C>T (p.Asp115=)	GATA1	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 2952846	NM_002049.4(GATA1):c.220+1G>T	GATA1	Single nucleotide variant (splice donor variant)	Diamond-Blackfan anemia +1 more	GPathogenic
Select item 2952845	NM_002049.4(GATA1):c.-4_21del (p.Met1fs)	GATA1 (M1fs)	Deletion (frameshift variant +1 more)	Diamond-Blackfan anemia +1 more	GPathogenic
Select item 2952312	NM_002049.4(GATA1):c.220+5C>T	GATA1	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2951756	NM_002049.4(GATA1):c.93G>A (p.Gly31=)	GATA1	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 2951221	NM_002049.4(GATA1):c.221-3C>T	GATA1	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2950279	NM_002049.4(GATA1):c.253G>A (p.Glu85Lys)	GATA1 (E85K)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2950118	NM_002049.4(GATA1):c.182_183insGTGC (p.Tyr62fs)	GATA1 (Y62fs)	Insertion (frameshift variant)	Diamond-Blackfan anemia +1 more	GPathogenic
Select item 2949382	NM_002049.4(GATA1):c.528C>T (p.Thr176=)	GATA1	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 2948822	NM_002049.4(GATA1):c.871-11C>T	GATA1, LOC119407405	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 2948592	NM_002049.4(GATA1):c.1198C>T (p.Pro400Ser)	GATA1 (P400S)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2948558	NM_002049.4(GATA1):c.251T>C (p.Met84Thr)	GATA1 (M84T)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2948512	NM_002049.4(GATA1):c.1200_1217del (p.Pro401_Thr406del)	GATA1	Deletion (inframe_deletion)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2948168	NM_002049.4(GATA1):c.125_146del (p.Asp42fs)	GATA1 (D42fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia +1 more	GPathogenic
Select item 2948167	NM_002049.4(GATA1):c.122T>G (p.Leu41Trp)	GATA1 (L41W)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2947896	NM_002049.4(GATA1):c.294C>T (p.Tyr98=)	GATA1	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 2946969	NM_002049.4(GATA1):c.618C>A (p.Asn206Lys)	GATA1 (N206K)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2946372	NM_002049.4(GATA1):c.149C>G (p.Pro50Arg)	GATA1 (P50R)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2946049	NM_002049.4(GATA1):c.107C>T (p.Ser36Phe)	GATA1 (S36F)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2945767	NM_002049.4(GATA1):c.1135C>G (p.Leu379Val)	GATA1 (L379V)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2945727	NM_002049.4(GATA1):c.194_206del (p.Asp65fs)	GATA1 (D65fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia +1 more	GPathogenic
Select item 2945609	NM_002049.4(GATA1):c.1102G>C (p.Gly368Arg)	GATA1 (G368R)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2944587	NM_002049.4(GATA1):c.879G>A (p.Arg293=)	GATA1	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 2944455	NM_002049.4(GATA1):c.71_92dup (p.Phe33fs)	GATA1 (F33fs)	Duplication (frameshift variant)	Diamond-Blackfan anemia +1 more	GPathogenic
Select item 2941994	NM_002049.4(GATA1):c.1201C>A (p.Pro401Thr)	GATA1 (P401T)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2941504	NM_002049.4(GATA1):c.186C>G (p.Tyr62Ter)	GATA1 (Y62*)	Single nucleotide variant (nonsense)	Diamond-Blackfan anemia +1 more	GPathogenic
Select item 2941368	NM_002049.4(GATA1):c.579T>C (p.Thr193=)	GATA1	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 2939837	NM_002049.4(GATA1):c.51G>C (p.Gln17His)	GATA1 (Q17H)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2937625	NM_002049.4(GATA1):c.1175G>A (p.Gly392Asp)	GATA1 (G392D)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2937136	NM_002049.4(GATA1):c.550_551delinsAA (p.Ala184Asn)	GATA1 (A184N)	Indel (missense variant)	Diamond-Blackfan anemia +2 more	GUncertain significance
Select item 2936770	NM_002049.4(GATA1):c.797C>T (p.Thr266Met)	GATA1 (T266M)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2936694	NM_002049.4(GATA1):c.855C>T (p.Tyr285=)	GATA1	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 2936604	NM_002049.4(GATA1):c.1102G>A (p.Gly368Ser)	GATA1 (G368S)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2936412	NM_002049.4(GATA1):c.364G>A (p.Glu122Lys)	GATA1 (E122K)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 2936297	NM_002049.4(GATA1):c.684C>T (p.Cys228=)	GATA1	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 2935837	NM_002049.4(GATA1):c.1152A>C (p.Gly384=)	GATA1	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 2933448	NM_002049.4(GATA1):c.279T>C (p.Tyr93=)	GATA1	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 2933444	NM_002049.4(GATA1):c.1066G>A (p.Gly356Ser)	GATA1 (G356S)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2933287	NM_002049.4(GATA1):c.1019G>A (p.Gly340Asp)	GATA1 (G340D)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2932603	NM_002049.4(GATA1):c.224T>G (p.Phe75Cys)	GATA1 (F75C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2931927	NM_002049.4(GATA1):c.68T>G (p.Leu23Arg)	GATA1 (L23R)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2931674	NM_002049.4(GATA1):c.1196T>C (p.Met399Thr)	GATA1 (M399T)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2931484	NM_002049.4(GATA1):c.831C>T (p.Pro277=)	GATA1	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 2931414	NM_002049.4(GATA1):c.1215T>A (p.Thr405=)	GATA1	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 2930514	NM_002049.4(GATA1):c.969C>G (p.Gly323=)	GATA1	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 2928688	NM_002049.4(GATA1):c.1086T>C (p.His362=)	GATA1	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 2928606	NM_002049.4(GATA1):c.48C>A (p.Pro16=)	GATA1	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 2928443	NM_002049.4(GATA1):c.494G>A (p.Gly165Asp)	GATA1 (G165D)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2927945	NM_002049.4(GATA1):c.599A>C (p.Glu200Ala)	GATA1 (E200A)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance

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