Related gene-specific medical variations for Gene (Select 221421) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3208816	NM_018135.4(MRPS18A):c.517C>G (p.Arg173Gly)	MRPS18A, RSPH9 (R173G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3208808	NM_018135.4(MRPS18A):c.502C>G (p.Arg168Gly)	MRPS18A, RSPH9 (R168G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3208802	NM_018135.4(MRPS18A):c.482C>T (p.Pro161Leu)	MRPS18A, RSPH9 (P161L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3208800	NM_018135.4(MRPS18A):c.475G>A (p.Val159Ile)	MRPS18A, RSPH9 (V159I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2467641	NM_018135.4(MRPS18A):c.505T>C (p.Trp169Arg)	MRPS18A, RSPH9 (W169R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2455815	NM_018135.4(MRPS18A):c.562T>C (p.Ser188Pro)	RSPH9, MRPS18A (S188P)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2435487	NM_152732.5(RSPH9):c.825G>C (p.Met275Ile)	RSPH9 (A293P +3 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 12	GUncertain significance
Select item 2411260	NM_018135.4(MRPS18A):c.526G>A (p.Val176Met)	MRPS18A, RSPH9 (V176M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2359481	NM_018135.4(MRPS18A):c.542T>C (p.Leu181Pro)	MRPS18A, RSPH9 (L181P)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2325800	NM_018135.4(MRPS18A):c.466C>T (p.Pro156Ser)	MRPS18A, RSPH9 (P156S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2208139	NM_018135.4(MRPS18A):c.520A>G (p.Met174Val)	MRPS18A, RSPH9 (M174V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1344608	NM_152732.5(RSPH9):c.244del (p.Trp82fs)	RSPH9 (W82fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 1183671	NM_152732.5(RSPH9):c.394-197C>T	RSPH9, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183641	NM_152732.5(RSPH9):c.671-4152C>T	POLR1C, RSPH9	Single nucleotide variant (intron variant)	not provided	GBenign