ClinVar for MedGen (Select 412874) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1659137	NM_001014.5(RPS10):c.351C>T (p.Leu117=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 9 +1 more	GLikely benign
Select item 1558422	NM_001014.5(RPS10):c.312T>A (p.Pro104=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 9 +2 more	GLikely benign
Select item 1336843	NM_001014.5(RPS10):c.444C>T (p.Thr148=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 997511	NM_001014.5(RPS10):c.89C>T (p.Pro30Leu)	RPS10, RPS10-NUDT3 (P30L)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 9 +1 more	GUncertain significance
Select item 907589	NM_001014.5(RPS10):c.-27C>A	RPS10, RPS10-NUDT3	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 9	GUncertain significance
Select item 907588	NM_001014.5(RPS10):c.-9G>C	RPS10, RPS10-NUDT3	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 9	GUncertain significance
Select item 906571	NM_001014.5(RPS10):c.168C>T (p.Gly56=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 9	GUncertain significance
Select item 906570	NM_001014.5(RPS10):c.432T>G (p.Ala144=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GBenign/Likely benign
Select item 904984	NM_001014.5(RPS10):c.437C>T (p.Ser146Leu)	RPS10, RPS10-NUDT3 (S146L)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 9	GBenign
Select item 856444	NM_001014.5(RPS10):c.40C>T (p.Leu14Phe)	RPS10, RPS10-NUDT3 (L14F)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 516588	NM_001014.5(RPS10):c.1-18A>G	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 463371	NM_001014.5(RPS10):c.261G>A (p.Pro87=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 463370	NM_001014.5(RPS10):c.204C>T (p.Tyr68=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 9 +3 more	GBenign/Likely benign
Select item 356431	NM_001014.5(RPS10):c.-37C>T	RPS10, RPS10-NUDT3	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 9 +1 more	GBenign
Select item 356428	NM_001014.5(RPS10):c.-29C>T	RPS10, RPS10-NUDT3	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 9	GBenign
Select item 356427	NM_001014.5(RPS10):c.-21C>G	RPS10, RPS10-NUDT3	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 9	GBenign
Select item 356426	NM_001014.5(RPS10):c.-14C>T	RPS10, RPS10-NUDT3	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 9	GBenign
Select item 356424	NM_001014.5(RPS10):c.1-3C>G	RPS10-NUDT3, RPS10	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 9	GBenign
Select item 356423	NM_001014.5(RPS10):c.6G>A (p.Leu2=)	RPS10-NUDT3, RPS10	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GBenign/Likely benign
Select item 356422	NM_001014.5(RPS10):c.71A>G (p.Lys24Arg)	RPS10, RPS10-NUDT3 (K24R)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +2 more	GConflicting classifications of pathogenicity
Select item 356421	NM_001014.5(RPS10):c.111C>G (p.Asp37Glu)	RPS10-NUDT3, RPS10 (D37E)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 356420	NM_001014.5(RPS10):c.364G>A (p.Ala122Thr)	RPS10, RPS10-NUDT3 (A122T)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 9	GUncertain significance
Select item 356419	NM_001014.5(RPS10):c.408C>T (p.Ala136=)	RPS10-NUDT3, RPS10	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 356418	NM_001014.5(RPS10):c.*25G>T	RPS10, RPS10-NUDT3	Single nucleotide variant (3 prime UTR variant +1 more)	Diamond-Blackfan anemia 9	GUncertain significance
Select item 356417	NM_001014.5(RPS10):c.*43A>G	RPS10, RPS10-NUDT3	Single nucleotide variant (3 prime UTR variant +1 more)	Diamond-Blackfan anemia 9	GBenign
Select item 238211	NM_001014.5(RPS10):c.231G>A (p.Gln77=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 225461	NM_001014.5(RPS10):c.322+2_322+4dup	RPS10, RPS10-NUDT3	Duplication (splice donor variant)	Diamond-Blackfan anemia 9	GUncertain significance
Select item 6187	NM_001014.5(RPS10):c.337C>T (p.Arg113Ter)	RPS10, RPS10-NUDT3 (R113*)	Single nucleotide variant (nonsense)	Diamond-Blackfan anemia	GPathogenic
Select item 6186	NM_001014.5(RPS10):c.260dup (p.Glu88fs)	RPS10-NUDT3, RPS10 (E88fs)	Duplication (frameshift variant)	Diamond-Blackfan anemia 9	GPathogenic
Select item 6185	NM_001014.5(RPS10):c.3G>A (p.Met1Ile)	RPS10, RPS10-NUDT3 (M1I)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 9	GPathogenic

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Items: 30