ClinVar for MedGen (Select 390966) - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065914	NM_001022.4(RPS19):c.186_187del (p.His63fs)	RPS19 (A67fs +1 more)	Deletion (frameshift variant)	Diamond-Blackfan anemia 1	GUncertain significance
Select item 2690490	NM_001022.4(RPS19):c.376C>T (p.Gln126Ter)	RPS19 (Q126* +1 more)	Single nucleotide variant (nonsense +1 more)	Diamond-Blackfan anemia 1	GPathogenic
Select item 2585122	NM_001022.4(RPS19):c.106A>G (p.Thr36Ala)	RPS19 (T36A)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 1	GUncertain significance
Select item 2444176	NM_001022.4(RPS19):c.71del (p.Lys24fs)	RPS19 (K24fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia 1	GLikely pathogenic
Select item 2435479	NM_001022.4(RPS19):c.1-9C>T	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 1	GUncertain significance
Select item 2435478	NM_001022.4(RPS19):c.124C>T (p.His42Tyr)	RPS19 (H42Y)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 1	GUncertain significance
Select item 2412767	NM_001022.4(RPS19):c.316del (p.Ala106fs)	RPS19 (S110fs +1 more)	Deletion (frameshift variant)	Diamond-Blackfan anemia 1	GPathogenic
Select item 1687347	NM_001022.4(RPS19):c.296_297del (p.Val99fs)	RPS19 (C103fs +1 more)	Microsatellite (frameshift variant)	Diamond-Blackfan anemia 1	GPathogenic
Select item 1687343	NM_001022.4(RPS19):c.1A>G (p.Met1Val)	RPS19 (M1V)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 1	GUncertain significance
Select item 1626640	NM_001022.4(RPS19):c.411+19G>T	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 1591451	NM_001022.4(RPS19):c.356+12del	RPS19	Deletion (intron variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 1565135	NM_001022.4(RPS19):c.72-17C>G	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +1 more	GBenign/Likely benign
Select item 1496732	NM_001022.4(RPS19):c.128A>G (p.Lys43Arg)	RPS19 (K43R)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 1 +1 more	GUncertain significance
Select item 1394204	NM_001022.4(RPS19):c.245G>A (p.Arg82His)	RPS19 (R82H)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 1 +1 more	GUncertain significance
Select item 1334103	NM_182922.4(HEATR3):c.719C>T (p.Pro240Leu)	HEATR3 (P123L +2 more)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 1	GPathogenic
Select item 1334102	NM_182922.4(HEATR3):c.399+1G>T	HEATR3	Single nucleotide variant (splice donor variant)	Diamond-Blackfan anemia 1	GPathogenic
Select item 1323536	NM_001022.4(RPS19):c.403_404del (p.Ala135fs)	RPS19 (A135fs +1 more)	Deletion (frameshift variant)	Diamond-Blackfan anemia 1	GPathogenic
Select item 1300197	NM_182922.4(HEATR3):c.400T>C (p.Cys134Arg)	HEATR3 (C134R +1 more)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia 21 +1 more	GPathogenic
Select item 977498	NM_001022.4(RPS19):c.393G>A (p.Leu131=)	RPS19 (G136R)	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia +1 more	GConflicting classifications of pathogenicity
Select item 977494	NM_001022.4(RPS19):c.295_296delinsCAGCCGA (p.Val99fs)	RPS19 (C103fs +1 more)	Indel (frameshift variant)	Diamond-Blackfan anemia 1	GPathogenic
Select item 941888	NM_001022.4(RPS19):c.259G>A (p.Val87Ile)	RPS19 (V87I +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 894444	NM_001022.4(RPS19):c.357-5C>G	MIR6797, RPS19	Single nucleotide variant (non-coding transcript variant +1 more)	Diamond-Blackfan anemia 1	GUncertain significance
Select item 894443	NM_001022.4(RPS19):c.198C>T (p.Leu66=)	RPS19 (P71S)	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia 1	GUncertain significance
Select item 894442	NM_001022.4(RPS19):c.183G>A (p.Ala61=)	RPS19 (A66T)	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 894043	NM_001022.4(RPS19):c.71+6T>A	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 1	GUncertain significance
Select item 894042	NM_001022.4(RPS19):c.1-13C>T	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 1	GBenign/Likely benign
Select item 893194	NM_001022.4(RPS19):c.-26C>T	RPS19	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 1	GUncertain significance
Select item 893193	NM_001022.3(RPS19):c.-50G>A	RPS19	Single nucleotide variant	Diamond-Blackfan anemia 1	GUncertain significance
Select item 893192	NM_001022.3(RPS19):c.-190C>G	RPS19	Single nucleotide variant	Diamond-Blackfan anemia 1	GUncertain significance
Select item 700706	NM_001022.4(RPS19):c.333A>G (p.Lys111=)	RPS19 (N116D)	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 587695	NM_001022.4(RPS19):c.367_368dup (p.Leu123_Thr124insTer)	RPS19 (D128fs)	Duplication (frameshift variant)	Diamond-Blackfan anemia 1	GPathogenic
Select item 579583	NM_000969.5(RPL5):c.169_172del (p.Asn57fs)	DIPK1A, RPL5 (N57fs)	Deletion (frameshift variant +2 more)	not provided +3 more	GPathogenic
Select item 509474	NM_001022.4(RPS19):c.72-15C>G	RPS19	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 463374	NM_001022.4(RPS19):c.75C>T (p.Ser25=)	RPS19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 1 +1 more	GLikely benign
Select item 450916	NM_001022.4(RPS19):c.208G>A (p.Ala70Thr)	RPS19 (A70T +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 1 +2 more	GUncertain significance
Select item 436553	NM_001022.4(RPS19):c.356+3A>C	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 1	GLikely pathogenic
Select item 436552	NM_001022.4(RPS19):c.1-7C>T	RPS19	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 372494	NM_001022.4(RPS19):c.3G>T (p.Met1Ile)	RPS19 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 329394	NM_001022.4(RPS19):c.172+5G>C	RPS19 (E59D)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 1	GUncertain significance
Select item 329392	NM_001022.4(RPS19):c.68A>G (p.Lys23Arg)	RPS19 (K23R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 329391	NM_001022.4(RPS19):c.60C>G (p.Ala20=)	RPS19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 1 +4 more	GBenign/Likely benign
Select item 329390	NM_001022.4(RPS19):c.1-9C>A	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 1	GLikely benign
Select item 329389	NM_001022.4(RPS19):c.1-14A>G	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 1	GLikely benign
Select item 329388	NM_001022.4(RPS19):c.-1+14C>T	RPS19	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 1	GUncertain significance
Select item 329387	NM_001022.4(RPS19):c.-10A>G	RPS19	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 1	GLikely benign
Select item 329386	NM_001022.3(RPS19):c.-74C>T	RPS19	Single nucleotide variant	Diamond-Blackfan anemia 1	GUncertain significance
Select item 329383	NM_001022.3(RPS19):c.-151G>T	RPS19	Single nucleotide variant	Diamond-Blackfan anemia 1	GUncertain significance
Select item 329382	NM_001022.3(RPS19):c.-234G>A	RPS19	Single nucleotide variant	Diamond-Blackfan anemia 1	GBenign
Select item 329381	NM_001022.3(RPS19):c.-274T>C	RPS19	Single nucleotide variant	Diamond-Blackfan anemia 1	GBenign
Select item 329380	NM_001022.3(RPS19):c.-288A>C	RPS19	Single nucleotide variant	Diamond-Blackfan anemia 1	GBenign
Select item 329379	NM_001022.3(RPS19):c.-339T>C	RPS19	Single nucleotide variant	Diamond-Blackfan anemia 1	GUncertain significance
Select item 281749	NM_000969.5(RPL5):c.3+3G>C	RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 6 +5 more	GBenign/Likely benign
Select item 242753	NM_001022.4(RPS19):c.164C>T (p.Thr55Met)	RPS19 (T55M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 238214	NM_001022.4(RPS19):c.356+18G>C	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +2 more	GBenign
Select item 238200	NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys)	DIPK1A, RPL5 (Y210C)	Single nucleotide variant (missense variant +2 more)	not specified +5 more	GBenign/Likely benign
Select item 212065	NM_001022.4(RPS19):c.411+12G>A	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +3 more	GBenign
Select item 138927	NM_001022.4(RPS19):c.356+14=	RPS19	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 88978	NM_001022.3(RPS19):c.1-231_173-3418del	RPS19	Deletion	Diamond-Blackfan anemia 1	GPathogenic
Select item 6320	NM_001022.4(RPS19):c.380G>A (p.Gly127Glu)	RPS19 (G127E)	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia	GLikely pathogenic
Select item 6319	NM_001022.3(RPS19):c.[43G>T;164C>T]	RPS19 (T55M +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 1	GPathogenic
Select item 6318	NM_001022.4(RPS19):c.[134_135inv;138_139dup]	RPS19 (P47fs)	Inversion (missense variant +1 more)	Diamond-Blackfan anemia 1	GPathogenic
Select item 6317	NM_001022.4(RPS19):c.307del (p.Val103fs)	RPS19 (G107fs +1 more)	Deletion (frameshift variant)	Diamond-Blackfan anemia 1	GPathogenic
Select item 6316	NM_001022.4(RPS19):c.250A>T (p.Arg84Ter)	RPS19 (R84* +1 more)	Single nucleotide variant (nonsense +1 more)	Diamond-Blackfan anemia 1	GPathogenic
Select item 6315	NM_001022.4(RPS19):c.98G>A (p.Trp33Ter)	RPS19 (W33*)	Single nucleotide variant (nonsense)	Diamond-Blackfan anemia 1 +1 more	GPathogenic
Select item 6314	NM_001022.4(RPS19):c.184C>T (p.Arg62Trp)	RPS19 (R62W +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 1 +3 more	GPathogenic
Select item 6313	NM_001022.4(RPS19):c.280C>T (p.Arg94Ter)	RPS19 (R94* +1 more)	Single nucleotide variant (nonsense +1 more)	Diamond-Blackfan anemia 1 +2 more	GPathogenic

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Items: 66