ClinVar for Gene (Select 6203) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315353	NM_001013.4(RPS9):c.484C>T (p.Arg162Cys)	RPS9 (R162C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3315352	NM_001013.4(RPS9):c.250A>G (p.Ile84Val)	RPS9 (I84V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3242700	NC_000019.9:g.(?_54621659)_(54797848_?)dup	CNOT3, LENG1 +9 more	Duplication	not provided	GUncertain significance
Select item 3156292	NM_001013.4(RPS9):c.326G>A (p.Arg109His)	RPS9 (R109H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3156291	NM_001013.4(RPS9):c.146C>T (p.Thr49Ile)	RPS9 (T49I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3056073	NM_001013.4(RPS9):c.471C>T (p.Ile157=)	RPS9	Single nucleotide variant (synonymous variant +2 more)	RPS9-related disorder	GBenign
Select item 3042820	NM_001013.4(RPS9):c.309G>A (p.Glu103=)	RPS9	Single nucleotide variant (synonymous variant +2 more)	RPS9-related disorder	GBenign
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2672793	GRCh37/hg19 19q13.42(chr19:54544215-54881884)x3	CNOT3, LAIR1 +18 more	Copy number gain	not provided	GUncertain significance
Select item 2621725	NM_001013.4(RPS9):c.469A>G (p.Ile157Val)	RPS9 (I116V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2336233	NM_001013.4(RPS9):c.472G>A (p.Asp158Asn)	RPS9 (D117N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1443808	NC_000019.9:g.(?_54297303)_(55678016_?)dup	CACNG6, CACNG7 +51 more	Duplication	not provided	GUncertain significance
Select item 980772	GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3	TMC4, TMEM150B +87 more	Copy number gain	not provided	GUncertain significance
Select item 980771	GRCh37/hg19 19q13.42(chr19:54659105-54916280)x3	CNOT3, LAIR1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 816093	GRCh37/hg19 19q13.42(chr19:54701333-55536206)x3	CDC42EP5, FCAR +28 more	Copy number gain	not provided	GUncertain significance
Select item 816092	GRCh37/hg19 19q13.42(chr19:54474844-55181741)x3	CACNG6, CACNG8 +29 more	Copy number gain	not provided	GUncertain significance
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564602	GRCh37/hg19 19q13.42(chr19:53867570-55833460)x3	BRSK1, CACNG6 +68 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 221404	GRCh37/hg19 19q13.42(chr19:54710237-55648526)x1	LILRB3, CDC42EP5 +32 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221403	GRCh37/hg19 19q13.42(chr19:54647215-54705417)x3	CNOT3, LENG1 +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 33