RRP15[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 161040	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 34890	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 58129	GRCh38/hg38 1q41(chr1:215447347-221971832)x3	BPNT1, C1orf115 +135 more	Copy number gain	See cases	GPathogenic
Select item 438260	Single allele	BPNT1, C1orf115 +146 more	Deletion	Usher syndrome	GLikely pathogenic
Select item 60081	GRCh38/hg38 1q41(chr1:216518607-219827290)x1	ESRRG, GPATCH2 +55 more	Copy number loss	See cases	GPathogenic
Select item 60082	GRCh38/hg38 1q41(chr1:217452423-218818361)x1	GPATCH2, LINC00210 +22 more	Copy number loss	See cases	GPathogenic
Select item 154219	GRCh38/hg38 1q41(chr1:217558925-218732002)x3	GPATCH2, LINC00210 +19 more	Copy number gain	See cases	GUncertain significance
Select item 2349839	NM_016052.4(RRP15):c.23C>T (p.Ser8Leu)	LOC129932511, RRP15 (S8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245828	NM_016052.4(RRP15):c.65A>T (p.Lys22Met)	LOC129932511, RRP15 (K22M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558783	NM_016052.4(RRP15):c.94G>T (p.Ala32Ser)	LOC129932511, RRP15 (A32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156505	NM_016052.4(RRP15):c.123C>G (p.Asp41Glu)	LOC129932511, RRP15 (D41E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322286	NM_016052.4(RRP15):c.124A>C (p.Thr42Pro)	LOC129932511, RRP15 (T42P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482806	NM_016052.4(RRP15):c.125C>G (p.Thr42Ser)	LOC129932511, RRP15 (T42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292824	NM_016052.4(RRP15):c.215A>T (p.Glu72Val)	RRP15 (E72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268549	NM_016052.4(RRP15):c.317A>G (p.Glu106Gly)	RRP15 (E106G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214271	NM_016052.4(RRP15):c.322A>G (p.Lys108Glu)	RRP15 (K108E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156506	NM_016052.4(RRP15):c.328A>T (p.Thr110Ser)	RRP15 (T110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156507	NM_016052.4(RRP15):c.365A>G (p.Lys122Arg)	RRP15 (K122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273010	NM_016052.4(RRP15):c.478A>G (p.Arg160Gly)	RRP15 (R160G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383714	NM_016052.4(RRP15):c.593G>A (p.Arg198His)	RRP15 (R198H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 57198	GRCh38/hg38 1q41(chr1:218321722-218961624)x1	LINC01710, LINC02869 +9 more	Copy number loss	See cases	GUncertain significance
Select item 2485876	NM_016052.4(RRP15):c.740C>T (p.Thr247Met)	RRP15 (T247M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156508	NM_016052.4(RRP15):c.749G>A (p.Arg250His)	RRP15 (R250H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460927	NM_016052.4(RRP15):c.808G>T (p.Asp270Tyr)	RRP15 (D270Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709022	NM_016052.4(RRP15):c.816del (p.Ser272fs)	RRP15 (S272fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 2685838	GRCh37/hg19 1q41(chr1:218254112-218542059)x3	RRP15, TGFB2	Copy number gain	not provided	GUncertain significance
Select item 2685821	GRCh37/hg19 1q41(chr1:214853277-222111742)x1	BPNT1, C1orf115 +20 more	Copy number loss	not provided	GPathogenic
Select item 1810296	GRCh37/hg19 1q41(chr1:217923165-218542059)x1	RRP15, SPATA17 +1 more	Copy number loss	not provided	Gnot provided
Select item 1808344	GRCh37/hg19 1q41(chr1:218413540-218558588)x3	RRP15, TGFB2	Copy number gain	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1340623	GRCh37/hg19 1q41(chr1:218413613-218558588)x3	RRP15, TGFB2	Copy number gain	not provided	GUncertain significance
Select item 1199386	Single allele	IARS2, BROX +27 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 1199385	Single allele	TGFB2, RRP15	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 1199384	Single allele	TGFB2, ESRRG +4 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 1199383	Single allele	RRP15, TGFB2 +8 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 1199382	Single allele	RRP15, SPATA17 +2 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 565226	GRCh37/hg19 1q41(chr1:218486800-218632368)x1	RRP15, TGFB2	Copy number loss	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 565224	GRCh37/hg19 1q41(chr1:217986580-218476339)x3	RRP15, SPATA17	Copy number gain	not provided	GUncertain significance
Select item 523271	GRCh37/hg19 1q41(chr1:215829463-219225857)	ESRRG, GPATCH2 +4 more	Copy number loss	Scoliosis +4 more	GPathogenic
Select item 443565	GRCh37/hg19 1q41(chr1:217699328-218689648)x1	GPATCH2, RRP15 +2 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	EGLN1, EIF2D +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 224871	Single allele	EPRS1, SLC30A10 +6 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 224870	Single allele	TGFB2, USH2A +19 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 59