MRPS9-AS1[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 57183	GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3	C2orf49, C2orf49-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 152946	GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3	C2orf49, C2orf49-DT +176 more	Copy number gain	See cases	GUncertain significance
Select item 154902	GRCh38/hg38 2q11.2-12.2(chr2:101234070-105679157)x1	C2orf49, C2orf49-DT +111 more	Copy number loss	See cases	GPathogenic
Select item 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 145646	GRCh38/hg38 2q11.2-12.2(chr2:102084275-106085903)x1	TMEM182, C2orf49 +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 145956	GRCh38/hg38 2q12.1-12.3(chr2:104381722-107312459)x1	C2orf49, C2orf49-DT +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 151418	GRCh38/hg38 2q12.1-12.2(chr2:104871270-105354003)x1	C2orf49, C2orf49-DT +21 more	Copy number loss	See cases	GUncertain significance
Select item 2380458	NM_182640.3(MRPS9):c.982G>A (p.Val328Met)	MRPS9, MRPS9-AS1 (V328M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3296138	NM_182640.3(MRPS9):c.1072G>A (p.Glu358Lys)	MRPS9, MRPS9-AS1 (E358K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2396963	NM_182640.3(MRPS9):c.1078G>A (p.Glu360Lys)	MRPS9, MRPS9-AS1 (E360K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3296137	NM_182640.3(MRPS9):c.1084G>A (p.Glu362Lys)	MRPS9, MRPS9-AS1 (E362K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3209763	NM_182640.3(MRPS9):c.1088G>T (p.Trp363Leu)	MRPS9, MRPS9-AS1 (W363L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209768	NM_182640.3(MRPS9):c.1123C>T (p.Arg375Cys)	MRPS9, MRPS9-AS1 (R375C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530406	NM_182640.3(MRPS9):c.1175C>T (p.Thr392Met)	MRPS9, MRPS9-AS1 (T392M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance