PTPRR[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	BEST3, CAND1 +164 more	Copy number loss	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	LOC130008261, LOC130008262 +142 more	Copy number loss	See cases	GLikely pathogenic
Select item 147046	GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1	ATXN7L3B, BBS10 +126 more	Copy number loss	See cases	GPathogenic
Select item 57583	GRCh38/hg38 12q15-21.1(chr12:70051305-71116195)x1	LOC129390491, CNOT2 +17 more	Copy number loss	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +164 more	Copy number loss	See cases	GPathogenic
Select item 3149570	NM_002849.4(PTPRR):c.1921C>T (p.His641Tyr)	PTPRR (H396Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257335	NM_002849.4(PTPRR):c.1750G>A (p.Val584Met)	PTPRR (V472M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531536	NM_002849.4(PTPRR):c.1553T>G (p.Leu518Arg)	PTPRR (L406R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311647	NM_002849.4(PTPRR):c.1523A>G (p.Lys508Arg)	PTPRR (K508R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303005	NM_002849.4(PTPRR):c.1364A>T (p.Tyr455Phe)	PTPRR (Y343F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149568	NM_002849.4(PTPRR):c.1238C>T (p.Pro413Leu)	PTPRR (P207L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548894	NM_002849.4(PTPRR):c.1159G>T (p.Val387Leu)	PTPRR (V142L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408101	NM_002849.4(PTPRR):c.1159G>A (p.Val387Met)	PTPRR (V181M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285029	NM_002849.4(PTPRR):c.1139G>A (p.Arg380Lys)	PTPRR (R135K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615473	NM_002849.4(PTPRR):c.1130T>C (p.Ile377Thr)	PTPRR (I377T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548278	NM_002849.4(PTPRR):c.1129A>T (p.Ile377Phe)	PTPRR (I265F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311650	NM_002849.4(PTPRR):c.1125C>A (p.Ser375Arg)	PTPRR (S375R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508975	NM_002849.4(PTPRR):c.1100C>A (p.Ala367Glu)	PTPRR (A122E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149567	NM_002849.4(PTPRR):c.1073C>T (p.Ser358Phe)	PTPRR (S113F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149566	NM_002849.4(PTPRR):c.1019A>G (p.Asn340Ser)	PTPRR (N228S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311648	NM_002849.4(PTPRR):c.992T>C (p.Ile331Thr)	PTPRR (I86T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372803	NM_002849.4(PTPRR):c.952G>A (p.Ala318Thr)	PTPRR (A112T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595187	NM_002849.4(PTPRR):c.923G>A (p.Arg308Gln)	PTPRR (R308Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594350	NM_002849.4(PTPRR):c.818C>T (p.Pro273Leu)	PTPRR (P161L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401736	NM_002849.4(PTPRR):c.815C>T (p.Ser272Leu)	PTPRR (S160L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643178	NM_002849.4(PTPRR):c.745T>C (p.Tyr249His)	PTPRR (Y137H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2238058	NM_002849.4(PTPRR):c.721A>G (p.Ile241Val)	PTPRR (I129V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2454395	NM_002849.4(PTPRR):c.650A>G (p.His217Arg)	PTPRR (H105R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2609642	NM_002849.4(PTPRR):c.634G>A (p.Val212Ile)	PTPRR (V100I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3311651	NM_002849.4(PTPRR):c.565C>T (p.Leu189Phe)	PTPRR (L77F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149575	NM_002849.4(PTPRR):c.560G>A (p.Arg187His)	PTPRR (R75H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464687	NM_002849.4(PTPRR):c.515G>A (p.Arg172Gln)	PTPRR (R60Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149574	NM_002849.4(PTPRR):c.510A>G (p.Ile170Met)	PTPRR (I58M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718454	NM_002849.4(PTPRR):c.463C>T (p.Arg155Cys)	PTPRR (R155C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3149573	NM_002849.4(PTPRR):c.461A>G (p.Asn154Ser)	PTPRR (N42S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261340	NM_002849.4(PTPRR):c.410G>A (p.Arg137His)	PTPRR (R137H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362417	NM_002849.4(PTPRR):c.409C>T (p.Arg137Cys)	PTPRR (R25C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266475	NM_002849.4(PTPRR):c.400C>T (p.Arg134Trp)	PTPRR (R22W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149572	NM_002849.4(PTPRR):c.331A>G (p.Ile111Val)	PTPRR (I111V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458815	NM_002849.4(PTPRR):c.310C>T (p.Leu104Phe)	PTPRR (L104F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149571	NM_002849.4(PTPRR):c.301G>T (p.Gly101Cys)	PTPRR (G101C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526085	NM_002849.4(PTPRR):c.241G>A (p.Val81Ile)	PTPRR (V81I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271304	NM_002849.4(PTPRR):c.225C>A (p.Ser75Arg)	PTPRR (S75R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1694671	NM_002849.4(PTPRR):c.210C>T (p.Ser70=)	PTPRR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3149569	NM_002849.4(PTPRR):c.173C>T (p.Pro58Leu)	PTPRR (P58L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311649	NM_002849.4(PTPRR):c.149T>C (p.Ile50Thr)	PTPRR (I50T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387368	NM_002849.4(PTPRR):c.100C>G (p.Gln34Glu)	PTPRR (Q34E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484395	NM_002849.4(PTPRR):c.73A>G (p.Asn25Asp)	PTPRR (N25D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589106	NM_002849.4(PTPRR):c.21C>G (p.Phe7Leu)	PTPRR (F7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063262	GRCh37/hg19 12q15-21.1(chr12:69498859-74073631)x1	BEST3, CCT2 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 2684677	GRCh37/hg19 12q15(chr12:70973596-71231223)x3	PTPRB, PTPRR	Copy number gain	not provided	GUncertain significance
Select item 1340527	GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1	TBC1D15, THAP2 +25 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 980443	GRCh37/hg19 12q15(chr12:70973925-71245800)x3	PTPRB, PTPRR	Copy number gain	not provided	GUncertain significance
Select item 815534	GRCh37/hg19 12q15(chr12:71270444-71373631)x1	PTPRR	Copy number loss	not provided	GUncertain significance
Select item 815533	GRCh37/hg19 12q15-21.1(chr12:70403305-71510598)x1	PTPRR, PTPRB +2 more	Copy number loss	not provided	GUncertain significance
Select item 688046	GRCh37/hg19 12q15-21.1(chr12:71081550-73526446)x1	LGR5, PTPRR +8 more	Copy number loss	not provided	GUncertain significance
Select item 443535	GRCh37/hg19 12q15-21.1(chr12:70575476-73344659)x1	CNOT2, KCNMB4 +11 more	Copy number loss	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 394428	GRCh37/hg19 12q15(chr12:70588735-71366869)x1	CNOT2, KCNMB4 +2 more	Copy number loss	See cases	GLikely pathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 63