"Ambry Genetics"[submitter] AND "TPD52-MRPS28"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2310182	NM_014018.3(MRPS28):c.541A>G (p.Lys181Glu)	MRPS28, TPD52-MRPS28 (K181E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495994	NM_014018.3(MRPS28):c.512G>A (p.Gly171Glu)	MRPS28, TPD52-MRPS28 (G171E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302453	NM_014018.3(MRPS28):c.485T>A (p.Val162Glu)	MRPS28, TPD52-MRPS28 (V162E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380053	NM_014018.3(MRPS28):c.428G>A (p.Arg143Gln)	MRPS28, TPD52-MRPS28 (R217Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209247	NM_014018.3(MRPS28):c.388G>C (p.Asp130His)	MRPS28, TPD52-MRPS28 (D130H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209241	NM_014018.3(MRPS28):c.310A>G (p.Ile104Val)	MRPS28, TPD52-MRPS28 (I104V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397486	NM_014018.3(MRPS28):c.223A>G (p.Lys75Glu)	MRPS28, TPD52-MRPS28 (K149E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591736	NM_014018.3(MRPS28):c.196G>A (p.Val66Met)	LOC130000644, MRPS28 +1 more (V66M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300326	NM_014018.3(MRPS28):c.187C>G (p.Leu63Val)	LOC130000644, MRPS28 +1 more (L63V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307936	NM_014018.3(MRPS28):c.184C>A (p.Leu62Ile)	LOC130000644, MRPS28 +1 more (L62I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254081	NM_014018.3(MRPS28):c.184C>T (p.Leu62Phe)	LOC130000644, MRPS28 +1 more (L62F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209221	NM_014018.3(MRPS28):c.179C>G (p.Ser60Trp)	LOC130000644, MRPS28 +1 more (S60W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209216	NM_014018.3(MRPS28):c.178T>G (p.Ser60Ala)	LOC130000644, MRPS28 +1 more (S60A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556458	NM_014018.3(MRPS28):c.26C>T (p.Ala9Val)	LOC130000644, MRPS28 +1 more (A9V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329346	NM_001025253.3(TPD52):c.617G>A (p.Ser206Asn)	TPD52, TPD52-MRPS28 (S206N +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2464021	NM_001025253.3(TPD52):c.349G>A (p.Val117Ile)	TPD52, TPD52-MRPS28 (V157I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457924	NM_001025253.3(TPD52):c.343T>G (p.Ser115Ala)	TPD52, TPD52-MRPS28 (S115A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3181513	NM_001025253.3(TPD52):c.250G>A (p.Ala84Thr)	TPD52, TPD52-MRPS28 (A84T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596476	NM_001025253.3(TPD52):c.205C>T (p.Arg69Trp)	TPD52, TPD52-MRPS28 (R77W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383334	NM_001025253.3(TPD52):c.95C>T (p.Ser32Leu)	TPD52, TPD52-MRPS28 (S32L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 20