"Ambry Genetics"[submitter] AND "MRAP2"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1397756	NM_138409.4(MRAP2):c.44C>T (p.Ser15Leu)	MRAP2 (S15L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 3203879	NM_138409.4(MRAP2):c.58G>C (p.Asp20His)	MRAP2 (D20H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2295739	NM_138409.4(MRAP2):c.109G>A (p.Gly37Arg)	MRAP2 (G37R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2338003	NM_138409.4(MRAP2):c.222C>G (p.His74Gln)	MRAP2 (H74Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2456738	NM_138409.4(MRAP2):c.289C>T (p.Pro97Ser)	MRAP2 (P11S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2319530	NM_138409.4(MRAP2):c.295G>A (p.Glu99Lys)	MRAP2 (E13K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295783	NM_138409.4(MRAP2):c.316C>T (p.Arg106Cys)	MRAP2 (R51C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338296	NM_138409.4(MRAP2):c.347T>C (p.Phe116Ser)	MRAP2 (F116S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142615	NM_014895.4(CEP162):c.4160G>T (p.Gly1387Val)	CEP162, MRAP2 (G1311V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142614	NM_014895.4(CEP162):c.4153C>T (p.Arg1385Trp)	CEP162, MRAP2 (R1309W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142613	NM_014895.4(CEP162):c.4142G>A (p.Arg1381Gln)	CEP162, MRAP2 (R1381Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511880	NM_014895.4(CEP162):c.4091G>A (p.Arg1364His)	CEP162, MRAP2 (R1288H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142612	NM_014895.4(CEP162):c.4090C>T (p.Arg1364Cys)	CEP162, MRAP2 (R1288C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390051	NM_014895.4(CEP162):c.4067A>G (p.Lys1356Arg)	CEP162, MRAP2 (K1356R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512777	NM_014895.4(CEP162):c.3975A>T (p.Arg1325Ser)	MRAP2, CEP162 (R1249S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517972	NM_014895.4(CEP162):c.3937G>A (p.Val1313Met)	CEP162, MRAP2 (V1313M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2553657	NM_014895.4(CEP162):c.3896G>A (p.Arg1299Lys)	CEP162, MRAP2 (R1299K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance