ClinVar for Gene (Select 6189) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315299	NM_001006.5(RPS3A):c.104C>T (p.Ala35Val)	LOC126807190, RPS3A (A35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315298	NM_001006.5(RPS3A):c.785A>G (p.Glu262Gly)	RPS3A (E262G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156190	NM_001006.5(RPS3A):c.29C>G (p.Thr10Arg)	RPS3A, LOC126807190 (T10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024633	GRCh37/hg19 4q31.3(chr4:151592672-152212605)x3	LRBA, PRSS48 +3 more	Copy number gain	not provided	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 2354036	NM_001006.5(RPS3A):c.373G>A (p.Val125Ile)	RPS3A (V125I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340423	NM_001006.5(RPS3A):c.383A>G (p.Lys128Arg)	RPS3A (K128R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204768	NM_001006.5(RPS3A):c.737C>A (p.Thr246Lys)	RPS3A (T246K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 778160	NM_001006.5(RPS3A):c.63-6A>T	LOC126807190, RPS3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 562980	GRCh37/hg19 4q31.3(chr4:151948130-152446550)x3	RPS3A, FHIP1A +3 more	Copy number gain	not provided	GLikely benign
Select item 562979	GRCh37/hg19 4q31.3(chr4:151668145-152073515)x3	LRBA, SH3D19 +2 more	Copy number gain	not provided	GUncertain significance
Select item 562978	GRCh37/hg19 4q31.3(chr4:151603065-152213113)x3	LRBA, SNORD73A +3 more	Copy number gain	not provided	GUncertain significance
Select item 547107	GRCh37/hg19 4q31.3(chr4:151678774-152065504)x3	LRBA, RPS3A +2 more	Copy number gain	not provided	GLikely benign
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 395370	GRCh37/hg19 4q31.3(chr4:151678774-152069336)x3	SNORD73A, LRBA +2 more	Copy number gain	See cases	GLikely benign
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 393715	GRCh37/hg19 4q31.3(chr4:152021579-152092541)x3	SH3D19, SNORD73A +1 more	Copy number gain	See cases	GLikely benign
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 57896	GRCh38/hg38 4q31.3(chr4:150703713-151282758)x3	LOC108281188, LOC121056744 +13 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 38