Related gene-specific medical variations for Gene (Select 22832) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2656728	NM_014895.4(CEP162):c.4050A>G (p.Lys1350=)	CEP162, MRAP2	Single nucleotide variant (synonymous variant)	not provided	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
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 2512777	NM_014895.4(CEP162):c.3975A>T (p.Arg1325Ser)	CEP162, MRAP2 (R1249S +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 2390051	NM_014895.4(CEP162):c.4067A>G (p.Lys1356Arg)	CEP162, MRAP2 (K1356R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance