RPS29[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	LRR1, MAP4K5 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 1248443	NM_001030001.4(RPS29):c.*138A>G	RPS29	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3054139	NM_001030001.4(RPS29):c.195A>G (p.Leu65=)	RPS29	Single nucleotide variant (synonymous variant)	RPS29-related condition	GLikely benign
Select item 3053910	NM_001032.5(RPS29):c.*5T>G	RPS29	Single nucleotide variant (3 prime UTR variant +1 more)	RPS29-related condition	GLikely benign
Select item 1248271	NM_001032.5(RPS29):c.163-14dup	RPS29	Duplication (intron variant)	not provided	GBenign
Select item 1293204	NM_001032.5(RPS29):c.163-4del	RPS29	Deletion (intron variant)	Diamond-Blackfan anemia 13 +1 more	GBenign/Likely benign
Select item 1561313	NM_001032.5(RPS29):c.163-13T>G	RPS29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2423256	NM_001032.5(RPS29):c.163-17T>C	RPS29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2424357	NM_001032.5(RPS29):c.163-18C>T	RPS29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223950	NM_001032.5(RPS29):c.163-57G>A	RPS29	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1554931	NM_001032.5(RPS29):c.162+17G>C	RPS29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1513944	NM_001032.5(RPS29):c.162+16C>T	RPS29	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2897056	NM_001032.5(RPS29):c.162+8T>G	RPS29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018785	NM_001032.5(RPS29):c.162+7G>T	RPS29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1020787	NM_001032.5(RPS29):c.162+4G>T	RPS29	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1434119	NM_001032.5(RPS29):c.162+3A>G	RPS29	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1440649	NM_001032.5(RPS29):c.157A>G (p.Ile53Val)	RPS29 (I50V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885455	NM_001032.5(RPS29):c.156C>T (p.Phe52=)	RPS29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 140739	NM_001032.5(RPS29):c.149T>C (p.Ile50Thr)	RPS29 (I50T +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 13	GLikely pathogenic
Select item 2866763	NM_001032.5(RPS29):c.140C>T (p.Ala47Val)	RPS29 (A44V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2260558	NM_001032.5(RPS29):c.139G>T (p.Ala47Ser)	RPS29 (A47S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1642811	NM_001032.5(RPS29):c.126T>C (p.Cys42=)	RPS29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1609740	NM_001032.5(RPS29):c.117C>T (p.Cys39=)	RPS29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082765	NM_001032.5(RPS29):c.102T>C (p.Tyr34=)	RPS29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 140738	NM_001032.5(RPS29):c.91A>T (p.Ile31Phe)	RPS29 (I31F +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 13	GPathogenic
Select item 1486197	NM_001032.5(RPS29):c.76A>C (p.Asn26His)	RPS29 (N26H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1583233	NM_001032.5(RPS29):c.75A>C (p.Ser25=)	RPS29	Single nucleotide variant (synonymous variant)	RPS29-related condition +1 more	GLikely benign
Select item 421606	NM_001032.5(RPS29):c.73T>C (p.Ser25Pro)	RPS29 (S25P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2031161	NM_001032.5(RPS29):c.66T>C (p.Arg22=)	RPS29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1970489	NM_001032.5(RPS29):c.64C>A (p.Arg22Ser)	RPS29 (R22S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449694	NM_001032.5(RPS29):c.63-3C>A	RPS29	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 813931	NM_001032.5(RPS29):c.63-6T>G	RPS29	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 13 +1 more	GUncertain significance
Select item 2885489	NM_001032.5(RPS29):c.63-7C>T	RPS29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2048271	NM_001032.5(RPS29):c.63-7C>A	RPS29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902252	NM_001032.5(RPS29):c.63-14C>G	RPS29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2422911	NM_001032.5(RPS29):c.63-14C>T	RPS29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902553	NM_001032.5(RPS29):c.63-20C>A	RPS29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2427921	NM_001032.5(RPS29):c.63-20C>T	RPS29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989610	NM_001032.5(RPS29):c.62+18_62+39del	RPS29	Deletion (intron variant)	not provided	GUncertain significance
Select item 1571572	NM_001032.5(RPS29):c.62+14T>C	RPS29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2418290	NM_001032.5(RPS29):c.62+3G>A	RPS29	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2750612	NM_001032.5(RPS29):c.60T>C (p.Ser20=)	RPS29	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2888622	NM_001032.5(RPS29):c.31C>T (p.Pro11Ser)	RPS29 (P11S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2898628	NM_001032.5(RPS29):c.29A>G (p.His10Arg)	RPS29 (H10R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1625411	NM_001032.5(RPS29):c.27C>T (p.Ser9=)	RPS29	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1505249	NM_001032.5(RPS29):c.19T>C (p.Tyr7His)	RPS29 (Y7H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 508325	NM_001032.5(RPS29):c.18G>A (p.Leu6=)	RPS29	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2260559	NM_001032.5(RPS29):c.9C>G (p.His3Gln)	RPS29 (H3Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2718761	NM_001032.5(RPS29):c.7C>T (p.His3Tyr)	RPS29 (H3Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2887660	NM_001032.5(RPS29):c.6T>A (p.Gly2=)	RPS29	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1904650	NM_001032.5(RPS29):c.6T>C (p.Gly2=)	RPS29	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2630441	NM_001032.5(RPS29):c.5G>C (p.Gly2Ala)	RPS29 (G2A)	Single nucleotide variant (missense variant +1 more)	RPS29-related condition	GUncertain significance
Select item 1196859	NM_001351375.2(RPS29):c.54-496G>C	RPS29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2423505	NC_000014.8:g.(?_50050385)_(50053064_?)dup	RPS29	Duplication	not provided	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1527812	GRCh37/hg19 14q21.2-21.3(chr14:45827312-50529931)	ARF6, DNAAF2 +14 more	Copy number gain	not specified	GUncertain significance
Select item 1412143	NC_000014.8:g.(?_50050385)_(50118115_?)dup	POLE2, RN7SL1 +5 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic

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Items: 63