RTP5[gene] - ClinVar

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Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +986 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	UGT1A6, UGT1A7 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	LOC129935990, LOC129935991 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	ACKR3, AGAP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +334 more	Copy number loss	See cases	GPathogenic
Select item 57457	GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1	LOC110120803, LOC110121201 +334 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	PRLH, PRR21 +325 more	Copy number loss	See cases	GPathogenic
Select item 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	ACKR3, AGAP1 +318 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	LOC129935986, LOC129935987 +314 more	Copy number loss	See cases	GPathogenic
Select item 59176	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	LOC129936018, LOC129936019 +311 more	Copy number gain	See cases	GPathogenic
Select item 58882	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	ACKR3, AGAP1 +309 more	Copy number loss	See cases	GPathogenic
Select item 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	See cases	GPathogenic
Select item 58883	GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	ACKR3, AGAP1 +298 more	Copy number loss	See cases	GPathogenic
Select item 151026	GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1	ACKR3, AGXT +287 more	Copy number loss	See cases	GPathogenic
Select item 57420	GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1	ACKR3, AGXT +276 more	Copy number loss	See cases	GPathogenic
Select item 1684635	Single allele	GPC1-AS1, GPR35 +274 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 150710	GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1	AGXT, ANKMY1 +274 more	Copy number loss	See cases	GPathogenic
Select item 146261	GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1	AGXT, ANKMY1 +271 more	Copy number loss	See cases	GPathogenic
Select item 146602	GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1	RBM44, RNPEPL1 +270 more	Copy number loss	See cases	GPathogenic
Select item 147368	GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1	AGXT, ANKMY1 +264 more	Copy number loss	See cases	GPathogenic
Select item 58885	GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1	AGXT, ANKMY1 +251 more	Copy number loss	See cases	GPathogenic
Select item 57432	GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1	AGXT, ANKMY1 +250 more	Copy number loss	See cases	GPathogenic
Select item 151032	GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1	LOC129935988, LOC129935989 +235 more	Copy number loss	See cases	GPathogenic
Select item 149058	GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1	AGXT, ANKMY1 +185 more	Copy number loss	See cases	GPathogenic
Select item 147508	GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1	AGXT, ANKMY1 +145 more	Copy number loss	See cases	GPathogenic
Select item 58910	GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1	FAM240C, FARP2 +143 more	Copy number loss	See cases	GPathogenic
Select item 146578	GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1	NEU4, PASK +138 more	Copy number loss	See cases	GPathogenic
Select item 149568	GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GLikely pathogenic
Select item 151964	GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GUncertain significance
Select item 58911	GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1	AGXT, ANKMY1 +131 more	Copy number loss	See cases	GPathogenic
Select item 146232	GRCh38/hg38 2q37.3(chr2:240507151-242065208)x1	LINC01238, LINC01880 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 152539	GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1	LOC132088835, LOC132088836 +96 more	Copy number loss	See cases	GLikely pathogenic
Select item 58914	GRCh38/hg38 2q37.3(chr2:241249295-242086301)x1	ATG4B, BOK +56 more	Copy number loss	See cases	GPathogenic
Select item 144757	GRCh38/hg38 2q37.3(chr2:241481406-242126245)x1	D2HGDH, DTYMK +44 more	Copy number loss	See cases	GUncertain significance
Select item 144361	GRCh38/hg38 2q37.3(chr2:241522479-242126245)x3	ATG4B, BOK +39 more	Copy number gain	See cases	GUncertain significance
Select item 153126	GRCh38/hg38 2q37.3(chr2:241565848-242110155)x1	ATG4B, BOK +32 more	Copy number loss	See cases	GUncertain significance
Select item 57280	GRCh38/hg38 2q37.3(chr2:241582713-242065208)x1	ATG4B, D2HGDH +29 more	Copy number loss	See cases	GUncertain significance
Select item 144276	GRCh38/hg38 2q37.3(chr2:241770998-241996090)x1	FAM240C, GAL3ST2 +9 more	Copy number loss	See cases	GBenign
Select item 150570	GRCh38/hg38 2q37.3(chr2:241856400-242027723)x1	FAM240C, LINC01237 +5 more	Copy number loss	See cases	GBenign
Select item 2609040	NM_173821.3(RTP5):c.50T>C (p.Met17Thr)	RTP5 (M17T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466508	NM_173821.3(RTP5):c.73G>A (p.Val25Ile)	RTP5 (V25I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286116	NM_173821.3(RTP5):c.73G>T (p.Val25Phe)	RTP5 (V25F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229834	NM_173821.3(RTP5):c.122G>A (p.Gly41Asp)	RTP5 (G41D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 710903	NM_173821.3(RTP5):c.179C>T (p.Pro60Leu)	RTP5 (P60L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2652121	NM_173821.3(RTP5):c.195G>A (p.Ser65=)	RTP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2299905	NM_173821.3(RTP5):c.262C>A (p.Arg88Ser)	RTP5 (R88S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360628	NM_173821.3(RTP5):c.323C>T (p.Pro108Leu)	RTP5 (P108L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2387480	NM_173821.3(RTP5):c.407C>G (p.Pro136Arg)	RTP5 (P136R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545522	NM_173821.3(RTP5):c.496G>A (p.Ala166Thr)	RTP5 (A166T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2352033	NM_173821.3(RTP5):c.521C>T (p.Thr174Met)	RTP5 (T174M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599463	NM_173821.3(RTP5):c.582C>A (p.Asp194Glu)	RTP5 (D194E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543329	NM_173821.3(RTP5):c.673C>A (p.Pro225Thr)	RTP5 (P225T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292901	NM_173821.3(RTP5):c.673C>G (p.Pro225Ala)	RTP5 (P225A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527309	NM_173821.3(RTP5):c.713C>T (p.Ala238Val)	RTP5 (A238V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495864	NM_173821.3(RTP5):c.875G>T (p.Gly292Val)	RTP5 (G292V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471656	NM_173821.3(RTP5):c.904G>A (p.Val302Met)	RTP5 (V302M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489021	NM_173821.3(RTP5):c.1072G>A (p.Asp358Asn)	RTP5 (D358N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304245	NM_173821.3(RTP5):c.1327G>A (p.Glu443Lys)	RTP5 (E443K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263463	NM_173821.3(RTP5):c.1360G>A (p.Asp454Asn)	RTP5 (D454N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307393	NM_173821.3(RTP5):c.1448A>G (p.Lys483Arg)	RTP5 (K483R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344492	NM_173821.3(RTP5):c.1451G>A (p.Arg484His)	RTP5 (R484H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2281339	NM_173821.3(RTP5):c.1517A>G (p.Gln506Arg)	RTP5 (Q506R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225666	NM_173821.3(RTP5):c.1549G>C (p.Ala517Pro)	RTP5 (A517P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296661	NM_173821.3(RTP5):c.1564C>T (p.Arg522Cys)	RTP5 (R522C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256774	NM_173821.3(RTP5):c.1567C>T (p.Arg523Trp)	RTP5 (R523W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2327383	NM_173821.3(RTP5):c.1588G>C (p.Gly530Arg)	RTP5 (G530R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617401	NM_173821.3(RTP5):c.1654G>T (p.Val552Leu)	RTP5 (V552L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385291	NM_173821.3(RTP5):c.1685G>A (p.Arg562Gln)	RTP5 (R562Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 1711534	GRCh37/hg19 2q37.3(chr2:239229304-243199373)x1	CAPN10, COPS9 +39 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1340021	GRCh37/hg19 2q37.3(chr2:240208466-243199373)x3	LOC100128563, MAB21L4 +37 more	Copy number gain	not provided	GUncertain significance
Select item 997810	Single allele	D2HGDH, DTYMK +57 more	Deletion	Intellectual disability	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 981208	GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1	KCNJ13, NGEF +97 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 929402	GRCh37/hg19 2q37.3(chr2:241791028-242842568)x3	AGXT, ANO7 +19 more	Copy number gain	See cases	GUncertain significance
Select item 929352	GRCh37/hg19 2q37.3(chr2:241810850-243048760)x3	AGXT, ANO7 +19 more	Copy number gain	See cases	GUncertain significance
Select item 929330	GRCh37/hg19 2q37.3(chr2:238863455-243048760)x3	AGXT, ANKMY1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 814382	GRCh37/hg19 2q37.3(chr2:242011633-243199373)x1	ANO7, THAP4 +17 more	Copy number loss	not provided	GLikely pathogenic
Select item 638101	GRCh37/hg19 2q37.3(chr2:239894072-243048760)x1	AGXT, ANKMY1 +37 more	Copy number loss	See cases	GPathogenic
Select item 625781	GRCh37/hg19 2q37.3(chr2:239071623-243048760)	AGXT, ANKMY1 +44 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 625780	GRCh37/hg19 2q37.3(chr2:238795602-242918203)	AGXT, ANKMY1 +49 more	Copy number loss	Chromosome 2q37 deletion syndrome	GLikely pathogenic
Select item 624557	GRCh37/hg19 2q37.3(chr2:242766297-242886445)x3	PDCD1, RTP5	Copy number gain	not provided	GUncertain significance
Select item 395404	GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1	ACKR3, AGAP1 +83 more	Copy number loss	See cases	GPathogenic
Select item 394636	GRCh37/hg19 2q37.3(chr2:242045569-243040217)x1	ANO7, ATG4B +15 more	Copy number loss	See cases	GLikely pathogenic
Select item 187820	GRCh37/hg19 2q37.3(chr2:239873381-243006013)x3	D2HGDH, DTYMK +36 more	Copy number gain	See cases	GPathogenic
Select item 156828	NC_000002.11:g.242812080_243048760del	RTP5	Deletion	Large for gestational age	Gnot provided

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Items: 92