"Fulgent Genetics, Fulgent Genetics"[submitter] AND "DIPK1A"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1578402	NM_000969.5(RPL5):c.4-4T>C	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 6 +1 more	GLikely benign
Select item 1154245	NM_000969.5(RPL5):c.141C>T (p.Pro47=)	RPL5, DIPK1A	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia 6 +1 more	GLikely benign
Select item 238196	NM_000969.5(RPL5):c.165G>A (p.Val55=)	RPL5, DIPK1A	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia 6 +3 more	GBenign/Likely benign
Select item 654206	NM_000969.5(RPL5):c.229G>A (p.Ala77Thr)	DIPK1A, RPL5 (A77T)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 958258	NM_000969.5(RPL5):c.235T>A (p.Tyr79Asn)	DIPK1A, RPL5 (Y79N)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 661555	NM_000969.5(RPL5):c.269T>C (p.Val90Ala)	RPL5, DIPK1A (V90A)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia 6 +1 more	GUncertain significance
Select item 1436761	NM_000969.5(RPL5):c.309G>T (p.Leu103=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia 6 +1 more	GLikely benign
Select item 875589	NM_000969.5(RPL5):c.324+14G>T	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 6 +1 more	GBenign/Likely benign
Select item 1470854	NM_000969.5(RPL5):c.344T>C (p.Met115Thr)	DIPK1A, RPL5 (M115T)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 1169736	NM_000969.5(RPL5):c.408T>C (p.Asp136=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia 6 +1 more	GBenign/Likely benign
Select item 6180	NM_000969.5(RPL5):c.418G>A (p.Gly140Ser)	DIPK1A, RPL5 (G140S)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1170876	NM_000969.5(RPL5):c.423C>T (p.Ala141=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 463367	NM_000969.5(RPL5):c.426C>G (p.Phe142Leu)	DIPK1A, RPL5 (F142L)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1336953	NM_000969.5(RPL5):c.435T>C (p.Tyr145=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GLikely benign
Select item 1445254	NM_000969.5(RPL5):c.517A>G (p.Ile173Val)	RPL5, DIPK1A (I173V)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 1346567	NM_000969.5(RPL5):c.587G>A (p.Arg196Gln)	DIPK1A, RPL5 (R196Q)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 1443487	NM_000969.5(RPL5):c.599T>C (p.Met200Thr)	RPL5, DIPK1A (M200T)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia 6 +1 more	GUncertain significance
Select item 953671	NM_000969.5(RPL5):c.625C>T (p.Arg209Cys)	RPL5, DIPK1A (R209C)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia 6 +1 more	GUncertain significance
Select item 100639	NM_000969.5(RPL5):c.664C>T (p.Gln222Ter)	DIPK1A, RPL5 (Q222*)	Single nucleotide variant (nonsense +2 more)	Diamond-Blackfan anemia 6	GPathogenic
Select item 1509081	NM_000969.5(RPL5):c.691G>A (p.Val231Ile)	DIPK1A, RPL5 (V231I)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia 6 +2 more	GUncertain significance
Select item 1081167	NM_000969.5(RPL5):c.794+8G>A	RPL5, DIPK1A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 6 +1 more	GLikely benign
Select item 1666891	NM_000969.5(RPL5):c.794+19dup	DIPK1A, RPL5	Duplication (intron variant)	Diamond-Blackfan anemia 6 +1 more	GBenign/Likely benign
Select item 1338688	NM_000969.5(RPL5):c.794+16_794+19del	RPL5, DIPK1A	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign

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Items: 23