Related gene-specific medical variations for Gene (Select 5789) - ClinVar

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Links from Gene

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311517	NM_002839.4(PTPRD):c.2624A>G (p.Glu875Gly)	LOC126860578, PTPRD (E875G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149329	NM_002839.4(PTPRD):c.2917G>A (p.Val973Ile)	LOC126860578, PTPRD (V973I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063103	GRCh37/hg19 9p23(chr9:9173872-9233853)x3	PTPRD	Copy number gain	not specified	GUncertain significance
Select item 3055817	NM_002839.4(PTPRD):c.2983C>T (p.Arg995Cys)	LOC126860578, PTPRD (R995C)	Single nucleotide variant (missense variant +1 more)	PTPRD-related disorder	GBenign
Select item 3050497	NM_002839.4(PTPRD):c.2886C>T (p.Asn962=)	LOC126860578, PTPRD	Single nucleotide variant (synonymous variant +1 more)	PTPRD-related disorder	GLikely benign
Select item 3039525	NM_002839.4(PTPRD):c.2600C>T (p.Pro867Leu)	LOC126860578, PTPRD (P867L)	Single nucleotide variant (missense variant +1 more)	PTPRD-related disorder	GBenign
Select item 3039393	NM_002839.4(PTPRD):c.2756C>A (p.Thr919Asn)	LOC126860578, PTPRD (T919N)	Single nucleotide variant (missense variant +1 more)	PTPRD-related disorder	GBenign
Select item 2685339	GRCh37/hg19 9p23(chr9:9807256-9948303)x1	PTPRD	Copy number loss	not provided	GUncertain significance
Select item 2685338	GRCh37/hg19 9p23(chr9:9387870-9511235)x1	PTPRD	Copy number loss	not provided	GUncertain significance
Select item 2659064	NM_002839.4(PTPRD):c.2468-6C>T	LOC126860578, PTPRD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2635568	NM_002839.4(PTPRD):c.2941C>G (p.Leu981Val)	LOC126860578, PTPRD (L981V)	Single nucleotide variant (missense variant +1 more)	PTPRD-related disorder	GUncertain significance
Select item 2618030	NM_002839.4(PTPRD):c.2873A>C (p.Tyr958Ser)	LOC126860578, PTPRD (Y958S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533104	NM_002839.4(PTPRD):c.2773C>A (p.Leu925Ile)	LOC126860578, PTPRD (L925I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528186	NM_002839.4(PTPRD):c.2606C>A (p.Thr869Asn)	LOC126860578, PTPRD (T869N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471300	NM_002839.4(PTPRD):c.2704G>T (p.Gly902Cys)	LOC126860578, PTPRD (G902C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456893	NM_002839.4(PTPRD):c.2972A>T (p.Asp991Val)	LOC126860578, PTPRD (D991V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455200	NM_002839.4(PTPRD):c.2533C>T (p.Pro845Ser)	LOC126860578, PTPRD (P845S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410051	NM_002839.4(PTPRD):c.2505G>C (p.Gln835His)	LOC126860578, PTPRD (Q835H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375518	NM_002839.4(PTPRD):c.2930C>T (p.Thr977Ile)	LOC126860578, PTPRD (T977I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362416	NM_002839.4(PTPRD):c.2803G>A (p.Val935Ile)	LOC126860578, PTPRD (V935I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332014	NM_002839.4(PTPRD):c.2809T>A (p.Leu937Ile)	LOC126860578, PTPRD (L937I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316108	NM_002839.4(PTPRD):c.2752C>G (p.Pro918Ala)	LOC126860578, PTPRD (P918A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269999	NM_002839.4(PTPRD):c.2960A>T (p.Asp987Val)	LOC126860578, PTPRD (D987V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231244	NM_002839.4(PTPRD):c.2483G>C (p.Arg828Pro)	LOC126860578, PTPRD (R828P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212918	NM_002839.4(PTPRD):c.3029A>G (p.Gln1010Arg)	LOC126860578, PTPRD (Q1010R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809132	GRCh37/hg19 9p23(chr9:9779358-9982967)x1	PTPRD	Copy number loss	not provided	GUncertain significance
Select item 1809113	GRCh37/hg19 9p24.1-23(chr9:8878557-9270642)x3	PTPRD	Copy number gain	not provided	GUncertain significance
Select item 1808380	GRCh37/hg19 9p23(chr9:9294608-9683321)x1	PTPRD	Copy number loss	not provided	GUncertain significance
Select item 1808318	GRCh37/hg19 9p24.1(chr9:8348602-8425017)x1	PTPRD	Copy number loss	not provided	GUncertain significance
Select item 1340846	GRCh37/hg19 9p23(chr9:9724975-10032408)x1	PTPRD	Copy number loss	not provided	GUncertain significance
Select item 1340658	GRCh37/hg19 9p23(chr9:9843264-9962066)x1	PTPRD	Copy number loss	not provided	GUncertain significance
Select item 1340602	GRCh37/hg19 9p24.1(chr9:8159983-8433022)x1	PTPRD	Copy number loss	not provided	GUncertain significance
Select item 1340290	GRCh37/hg19 9p23(chr9:10586838-12406559)x1	PTPRD	Copy number loss	not provided	GUncertain significance
Select item 992772	NM_002839.4(PTPRD):c.4078G>A (p.Glu1360Lys)	PTPRD (E1360K +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 980908	GRCh37/hg19 9p24.1-23(chr9:8784854-10320042)x3	PTPRD	Copy number gain	not provided	GUncertain significance
Select item 980899	GRCh37/hg19 9p23(chr9:9317522-9401665)x1	PTPRD	Copy number loss	not provided	GUncertain significance
Select item 980898	GRCh37/hg19 9p23(chr9:9328063-9534285)x3	PTPRD	Copy number gain	not provided	GUncertain significance
Select item 980895	GRCh37/hg19 9p23(chr9:10292536-10491387)x1	PTPRD	Copy number loss	not provided	GLikely benign
Select item 815231	GRCh37/hg19 9p23(chr9:10546813-10690633)x1	PTPRD	Copy number loss	not provided	GUncertain significance
Select item 815230	GRCh37/hg19 9p23(chr9:10502636-10716842)x1	PTPRD	Copy number loss	not provided	GUncertain significance
Select item 815229	GRCh37/hg19 9p23(chr9:10342651-11549994)x3	PTPRD	Copy number gain	not provided	GUncertain significance
Select item 815228	GRCh37/hg19 9p23(chr9:9779357-11751669)x3	PTPRD	Copy number gain	not provided	GUncertain significance
Select item 815227	GRCh37/hg19 9p24.1(chr9:8400319-8929171)x1	PTPRD	Copy number loss	not provided	GUncertain significance
Select item 815226	GRCh37/hg19 9p24.1(chr9:8027303-8505087)x3	PTPRD	Copy number gain	not provided	GUncertain significance
Select item 786819	NM_002839.4(PTPRD):c.2685C>G (p.Leu895=)	LOC126860578, PTPRD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 770198	NM_002839.4(PTPRD):c.2889C>T (p.Ile963=)	LOC126860578, PTPRD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 770197	NM_002839.4(PTPRD):c.3030G>C (p.Gln1010His)	LOC126860578, PTPRD (Q1010H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 745382	NM_002839.4(PTPRD):c.2598G>A (p.Glu866=)	LOC126860578, PTPRD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 733743	NM_002839.4(PTPRD):c.2643A>C (p.Thr881=)	LOC126860578, PTPRD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 717708	NM_002839.4(PTPRD):c.2675T>C (p.Val892Ala)	LOC126860578, PTPRD (V892A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 716918	NM_002839.4(PTPRD):c.2821C>G (p.Pro941Ala)	LOC126860578, PTPRD (P941A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 689161	GRCh37/hg19 9p24.1-23(chr9:8944319-10214539)x3	PTPRD	Copy number gain	not provided	GUncertain significance
Select item 688976	GRCh37/hg19 9p24.1-23(chr9:8902032-9041689)x1	PTPRD	Copy number loss	not provided	GUncertain significance
Select item 688314	GRCh37/hg19 9p24.1-23(chr9:8901757-9027218)x1	PTPRD	Copy number loss	not provided	GUncertain significance
Select item 688077	GRCh37/hg19 9p23(chr9:10309896-10893170)x3	PTPRD	Copy number gain	not provided	GUncertain significance
Select item 688060	GRCh37/hg19 9p24.1(chr9:8583472-8883408)x1	PTPRD	Copy number loss	not provided	GUncertain significance
Select item 687143	GRCh37/hg19 9p23(chr9:9562066-10272448)x3	PTPRD	Copy number gain	not provided	GUncertain significance
Select item 687092	GRCh37/hg19 9p23(chr9:9560356-9691240)x1	PTPRD	Copy number loss	not provided	GUncertain significance
Select item 686629	GRCh37/hg19 9p24.1(chr9:8684982-8788779)x1	PTPRD	Copy number loss	not provided	GUncertain significance
Select item 686606	GRCh37/hg19 9p24.1-23(chr9:8901757-9041689)x3	PTPRD	Copy number gain	not provided	GUncertain significance
Select item 686583	GRCh37/hg19 9p23(chr9:9937752-9957178)x1	PTPRD	Copy number loss	not provided	GUncertain significance
Select item 686264	GRCh37/hg19 9p23(chr9:9358619-9414834)x3	PTPRD	Copy number gain	not provided	GUncertain significance
Select item 686155	GRCh37/hg19 9p23(chr9:9995481-10038041)x1	PTPRD	Copy number loss	not provided	GUncertain significance
Select item 686026	GRCh37/hg19 9p24.1(chr9:8676175-8892976)x1	PTPRD	Copy number loss	not provided	GUncertain significance
Select item 685690	GRCh37/hg19 9p23(chr9:9149127-9231961)x1	PTPRD	Copy number loss	not provided	GUncertain significance
Select item 685663	GRCh37/hg19 9p23(chr9:9973934-10487248)x3	PTPRD	Copy number gain	not provided	GUncertain significance
Select item 685642	GRCh37/hg19 9p24.1(chr9:8149598-8338878)x1	PTPRD	Copy number loss	not provided	GUncertain significance
Select item 685421	GRCh37/hg19 9p23(chr9:9560356-9691315)x1	PTPRD	Copy number loss	not provided	GUncertain significance
Select item 685381	GRCh37/hg19 9p24.1(chr9:8509505-8619969)x1	PTPRD	Copy number loss	not provided	GUncertain significance
Select item 685049	GRCh37/hg19 9p23(chr9:9387869-9505596)x1	PTPRD	Copy number loss	not provided	GUncertain significance
Select item 563654	GRCh37/hg19 9p23(chr9:9331656-10051766)x3	PTPRD	Copy number gain	not provided	GUncertain significance
Select item 563637	GRCh37/hg19 9p23(chr9:9975101-10487877)x3	PTPRD	Copy number gain	not provided	GUncertain significance
Select item 395181	GRCh37/hg19 9p23(chr9:9400269-9486593)x1	PTPRD	Copy number loss	See cases	GBenign
Select item 394325	GRCh37/hg19 9p23(chr9:9782827-9872073)x1	PTPRD	Copy number loss	See cases	GBenign
Select item 226197	GRCh37/hg19 9p23(chr9:9919638-9990269)	PTPRD	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 226196	GRCh37/hg19 9p24.1(chr9:8802640-8836439)	PTPRD	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 161800	NM_002839.4(PTPRD):c.5692C>T (p.Arg1898Cys)	PTPRD (R1491C +8 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 157135	NM_002839.3(PTPRD):c.352+22804_352+51088dup	PTPRD	Duplication	Large for gestational age	Gnot provided
Select item 152184	GRCh38/hg38 9p24.1(chr9:8284068-8331541)x1	PTPRD	Copy number loss	See cases	GBenign
Select item 144973	GRCh38/hg38 9p23(chr9:10249116-10340720)x3	PTPRD	Copy number gain	See cases	GBenign
Select item 144961	GRCh38/hg38 9p24.1-23(chr9:8903382-9014802)x1	PTPRD	Copy number loss	See cases	GBenign

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Links from Gene

Items: 81