"MRAP2-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3032145	NM_138409.4(MRAP2):c.-5C>T	MRAP2	Single nucleotide variant (5 prime UTR variant)	MRAP2-related disorder	GLikely benign
Select item 3060321	NM_138409.4(MRAP2):c.7G>A (p.Ala3Thr)	MRAP2 (A3T)	Single nucleotide variant (5 prime UTR variant +1 more)	MRAP2-related disorder	GUncertain significance
Select item 2887589	NM_138409.4(MRAP2):c.36C>A (p.Ser12=)	MRAP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 3031258	NM_138409.4(MRAP2):c.42A>G (p.Gln14=)	MRAP2	Single nucleotide variant (5 prime UTR variant +1 more)	MRAP2-related disorder	GLikely benign
Select item 2628917	NM_138409.4(MRAP2):c.64A>G (p.Thr22Ala)	MRAP2 (T22A)	Single nucleotide variant (5 prime UTR variant +1 more)	MRAP2-related disorder	GUncertain significance
Select item 3031367	NM_138409.4(MRAP2):c.78A>G (p.Glu26=)	MRAP2	Single nucleotide variant (5 prime UTR variant +1 more)	MRAP2-related disorder	GLikely benign
Select item 3058708	NM_138409.4(MRAP2):c.122A>C (p.His41Pro)	MRAP2 (H41P)	Single nucleotide variant (5 prime UTR variant +1 more)	MRAP2-related disorder	GUncertain significance
Select item 2629251	NM_138409.4(MRAP2):c.127+5G>T	MRAP2	Single nucleotide variant (intron variant)	MRAP2-related disorder	GUncertain significance
Select item 1570255	NM_138409.4(MRAP2):c.127+7T>G	MRAP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3052042	NM_138409.4(MRAP2):c.127+10A>G	MRAP2	Single nucleotide variant (intron variant)	MRAP2-related disorder	GLikely benign
Select item 3051015	NM_138409.4(MRAP2):c.128-5T>G	MRAP2	Single nucleotide variant (intron variant)	MRAP2-related disorder	GUncertain significance
Select item 3035282	NM_138409.4(MRAP2):c.128-3C>A	MRAP2	Single nucleotide variant (intron variant)	MRAP2-related disorder	GUncertain significance
Select item 3045456	NM_138409.4(MRAP2):c.152T>A (p.Val51Asp)	MRAP2 (V51D)	Single nucleotide variant (missense variant +2 more)	MRAP2-related disorder	GUncertain significance
Select item 748658	NM_138409.4(MRAP2):c.194C>T (p.Thr65Ile)	MRAP2 (T65I)	Single nucleotide variant (missense variant +2 more)	MRAP2-related disorder +1 more	GLikely benign
Select item 3058853	NM_138409.4(MRAP2):c.228-1844G>A	MRAP2 (G10R)	Single nucleotide variant (missense variant +1 more)	MRAP2-related disorder	GBenign
Select item 3043449	NM_138409.4(MRAP2):c.228-1809del	MRAP2	Deletion (intron variant +1 more)	MRAP2-related disorder	GUncertain significance
Select item 1991393	NM_138409.4(MRAP2):c.228-7del	MRAP2	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1479292	NM_138409.4(MRAP2):c.228-2A>G	MRAP2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	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 +2 more	GConflicting classifications of pathogenicity
Select item 3043691	NM_138409.4(MRAP2):c.317G>A (p.Arg106His)	MRAP2 (R106H +2 more)	Single nucleotide variant (missense variant)	MRAP2-related disorder	GUncertain significance
Select item 2629831	NM_138409.4(MRAP2):c.373C>T (p.Arg125Cys)	MRAP2 (R125C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2629315	NM_138409.4(MRAP2):c.521A>G (p.Gln174Arg)	MRAP2 (Q119R +2 more)	Single nucleotide variant (missense variant)	MRAP2-related disorder +1 more	GUncertain significance
Select item 2636495	NM_138409.4(MRAP2):c.565A>G (p.Ile189Val)	MRAP2 (I103V +2 more)	Single nucleotide variant (missense variant)	MRAP2-related disorder	GUncertain significance
Select item 3057030	NM_138409.4(MRAP2):c.585A>T (p.Pro195=)	MRAP2	Single nucleotide variant (synonymous variant)	MRAP2-related disorder	GLikely benign

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Items: 24