ClinVar for Gene (Select 23521) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315176	NM_012423.4(RPL13A):c.583G>A (p.Val195Ile)	RPL13A (V195I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315175	NM_012423.4(RPL13A):c.5C>G (p.Ala2Gly)	RPL13A (A2G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3315174	NM_012423.4(RPL13A):c.119G>A (p.Gly40Asp)	RPL13A (G40D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3248486	NC_000019.9:g.(?_49713446)_(50413064_?)dup	ADM5, AKT1S1 +35 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 3156035	NM_012423.4(RPL13A):c.8A>G (p.Glu3Gly)	RPL13A (E3G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3156034	NM_012423.4(RPL13A):c.566T>C (p.Ile189Thr)	RPL13A (I128T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156033	NM_012423.4(RPL13A):c.523A>C (p.Met175Leu)	RPL13A (M114L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156032	NM_012423.4(RPL13A):c.315T>G (p.Phe105Leu)	RPL13A (F44L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156031	NM_012423.4(RPL13A):c.203G>A (p.Arg68Gln)	RPL13A (R68Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
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 2650247	NM_012423.4(RPL13A):c.396A>C (p.Thr132=)	RPL13A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2558141	NM_012423.4(RPL13A):c.532C>T (p.Arg178Trp)	RPL13A (R178W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536488	NM_012423.4(RPL13A):c.430G>C (p.Glu144Gln)	RPL13A (E144Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373335	NM_012423.4(RPL13A):c.410A>G (p.Tyr137Cys)	RPL13A (Y76C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324184	NM_012423.4(RPL13A):c.419G>A (p.Arg140His)	RPL13A (R140H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304721	NM_012423.4(RPL13A):c.268C>T (p.His90Tyr)	RPL13A (H29Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302044	NM_012423.4(RPL13A):c.358G>C (p.Val120Leu)	RPL13A (V120L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211331	NM_012423.4(RPL13A):c.127A>G (p.Ile43Val)	RPL13A (I43V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	ADM5, ALDH16A1 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	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 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 775419	NM_012423.4(RPL13A):c.403-4G>A	RPL13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 770467	NM_012423.4(RPL13A):c.403-5C>G	RPL13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 769031	NM_012423.4(RPL13A):c.89-7C>T	RPL13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 750491	NM_012423.4(RPL13A):c.540G>A (p.Gln180=)	RPL13A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 723856	NM_012423.4(RPL13A):c.291C>T (p.Ala97=)	RPL13A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 715747	NM_012423.4(RPL13A):c.257-3C>T	RPL13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 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 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

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Links from Gene

Items: 35