"MRPS22-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 714207	NM_020191.4(MRPS22):c.27G>C (p.Leu9Phe)	MRPS22 (L9F)	Single nucleotide variant (missense variant)	MRPS22-related disorder +1 more	GBenign/Likely benign
Select item 1357928	NM_020191.4(MRPS22):c.171C>T (p.Ala57=)	LOC112903839, MRPS22	Single nucleotide variant (synonymous variant)	MRPS22-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3034660	NM_020191.4(MRPS22):c.172+476C>T	MRPS22 (S2F)	Single nucleotide variant (missense variant +1 more)	MRPS22-related disorder	GLikely benign
Select item 138250	NM_020191.4(MRPS22):c.201A>G (p.Lys67=)	MRPS22	Single nucleotide variant (synonymous variant)	MRPS22-related disorder +3 more	GBenign/Likely benign
Select item 517091	NM_020191.4(MRPS22):c.321T>C (p.Thr107=)	MRPS22	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 343485	NM_020191.4(MRPS22):c.327A>G (p.Ala109=)	MRPS22	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2892713	NM_020191.4(MRPS22):c.378A>G (p.Leu126=)	MRPS22	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3047712	NM_020191.4(MRPS22):c.505-7del	MRPS22	Deletion (intron variant)	MRPS22-related disorder	GLikely benign
Select item 214683	NM_020191.4(MRPS22):c.617C>T (p.Thr206Ile)	MRPS22 (T206I +2 more)	Single nucleotide variant (missense variant)	MRPS22-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3058459	NM_020191.4(MRPS22):c.648+6G>A	MRPS22	Single nucleotide variant (intron variant)	MRPS22-related disorder	GLikely benign
Select item 214680	NM_020191.4(MRPS22):c.741C>G (p.His247Gln)	MRPS22 (H247Q +2 more)	Single nucleotide variant (missense variant)	MRPS22-related disorder +2 more	GBenign/Likely benign
Select item 3048689	NM_020191.4(MRPS22):c.879-3C>T	MRPS22	Single nucleotide variant (intron variant)	MRPS22-related disorder	GLikely benign
Select item 214681	NM_020191.4(MRPS22):c.938C>T (p.Ser313Leu)	MRPS22 (S313L +2 more)	Single nucleotide variant (missense variant)	MRPS22-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 516562	NM_020191.4(MRPS22):c.987+15dup	MRPS22	Duplication (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 3029956	NM_020191.4(MRPS22):c.1030C>T (p.Leu344=)	MRPS22	Single nucleotide variant (synonymous variant)	MRPS22-related disorder	GLikely benign