ClinVar for Gene (Select 5796) - ClinVar

Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311594	NM_002844.4(PTPRK):c.3367A>G (p.Ile1123Val)	PTPRK (I1122V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311593	NM_002844.4(PTPRK):c.3361C>T (p.Arg1121Trp)	PTPRK (R1121W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311592	NM_002844.4(PTPRK):c.442G>A (p.Asp148Asn)	PTPRK (D148N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311591	NM_002844.4(PTPRK):c.3482A>G (p.Asp1161Gly)	PTPRK (D1161G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311590	NM_002844.4(PTPRK):c.2000C>T (p.Pro667Leu)	PTPRK, PTPRK-AS1 (P667L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311588	NM_002844.4(PTPRK):c.1279A>C (p.Ile427Leu)	PTPRK (I298L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149480	NM_002844.4(PTPRK):c.97G>A (p.Ala33Thr)	PTPRK (A33T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149478	NM_002844.4(PTPRK):c.4177G>A (p.Val1393Ile)	PTPRK (V1399I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149477	NM_002844.4(PTPRK):c.4175T>A (p.Ile1392Asn)	PTPRK (I1391N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149476	NM_002844.4(PTPRK):c.3995A>G (p.Gln1332Arg)	PTPRK (Q1331R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149475	NM_002844.4(PTPRK):c.3622A>G (p.Met1208Val)	PTPRK (M1230V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149474	NM_002844.4(PTPRK):c.3617G>A (p.Arg1206His)	PTPRK (R1228H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149473	NM_002844.4(PTPRK):c.3140C>T (p.Thr1047Met)	PTPRK (T1046M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149472	NM_002844.4(PTPRK):c.3116G>A (p.Arg1039His)	PTPRK (R1039H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149471	NM_002844.4(PTPRK):c.3016G>A (p.Val1006Ile)	PTPRK (V1028I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149470	NM_002844.4(PTPRK):c.2525G>T (p.Ser842Ile)	PTPRK (S841I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149469	NM_002844.4(PTPRK):c.2293A>T (p.Ile765Phe)	PTPRK (I765F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149467	NM_002844.4(PTPRK):c.2069A>G (p.Asn690Ser)	PTPRK, PTPRK-AS1 (N690S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149466	NM_002844.4(PTPRK):c.1864G>A (p.Ala622Thr)	PTPRK, PTPRK-AS1 (A493T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149465	NM_002844.4(PTPRK):c.1735T>C (p.Phe579Leu)	PTPRK, PTPRK-AS1 (F579L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149464	NM_002844.4(PTPRK):c.16G>A (p.Ala6Thr)	PTPRK (A6T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149463	NM_002844.4(PTPRK):c.1573G>A (p.Glu525Lys)	PTPRK, PTPRK-AS1 (E396K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3149462	NM_002844.4(PTPRK):c.1424G>A (p.Arg475Lys)	PTPRK (R475K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149461	NM_002844.4(PTPRK):c.1033G>T (p.Ala345Ser)	PTPRK (A345S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062929	GRCh37/hg19 6q22.31-22.33(chr6:124515654-130227224)x1	ARHGAP18, C6orf58 +19 more	Copy number loss	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 2684454	GRCh37/hg19 6q22.33(chr6:128226775-128818082)x3	PTPRK, THEMIS	Copy number gain	not provided	GUncertain significance
Select item 2656902	NM_002844.4(PTPRK):c.3485T>C (p.Met1162Thr)	PTPRK (M1161T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2607318	NM_002844.4(PTPRK):c.2299C>A (p.Leu767Ile)	PTPRK (L766I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603070	NM_002844.4(PTPRK):c.4195C>T (p.Arg1399Trp)	PTPRK (R1398W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 2562917	NM_002844.4(PTPRK):c.2528G>A (p.Arg843His)	PTPRK (R842H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542897	NM_002844.4(PTPRK):c.1920C>G (p.His640Gln)	PTPRK, PTPRK-AS1 (H511Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540606	NM_002844.4(PTPRK):c.782C>T (p.Thr261Ile)	PTPRK (T261I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533825	NM_002844.4(PTPRK):c.775G>C (p.Glu259Gln)	PTPRK (E130Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532440	NM_002844.4(PTPRK):c.1313G>A (p.Ser438Asn)	PTPRK (S438N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525593	NM_002844.4(PTPRK):c.2176G>A (p.Val726Ile)	PTPRK, PTPRK-AS1 (V597I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525497	NM_002844.4(PTPRK):c.2115A>C (p.Lys705Asn)	PTPRK, PTPRK-AS1 (K576N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2520515	NM_002844.4(PTPRK):c.2434C>G (p.Leu812Val)	PTPRK (L812V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510968	NM_002844.4(PTPRK):c.1135C>T (p.Pro379Ser)	PTPRK (P250S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494780	NM_002844.4(PTPRK):c.4186A>G (p.Met1396Val)	PTPRK (M1418V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490712	NM_002844.4(PTPRK):c.59C>T (p.Pro20Leu)	PTPRK (P20L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479879	NM_002844.4(PTPRK):c.3562C>G (p.Leu1188Val)	PTPRK (L1194V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456267	NM_002844.4(PTPRK):c.1385A>G (p.Asn462Ser)	PTPRK (N462S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454974	NM_002844.4(PTPRK):c.65C>T (p.Pro22Leu)	PTPRK (P22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400751	NM_002844.4(PTPRK):c.746G>A (p.Arg249Lys)	PTPRK (R120K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396945	NM_002844.4(PTPRK):c.197A>G (p.His66Arg)	PTPRK (I28V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389992	NM_002844.4(PTPRK):c.2453T>C (p.Leu818Pro)	PTPRK (L817P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386212	NM_002844.4(PTPRK):c.1308C>G (p.Asn436Lys)	PTPRK (N307K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358018	NM_002844.4(PTPRK):c.1322A>G (p.Asp441Gly)	PTPRK (D312G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354587	NM_002844.4(PTPRK):c.116A>G (p.Asp39Gly)	PTPRK (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351255	NM_002844.4(PTPRK):c.2554T>C (p.Cys852Arg)	PTPRK (C868R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339279	NM_002844.4(PTPRK):c.674A>G (p.His225Arg)	PTPRK (H225R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301464	NM_002844.4(PTPRK):c.3362G>A (p.Arg1121Gln)	PTPRK (R1120Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285851	NM_002844.4(PTPRK):c.2447A>T (p.Asp816Val)	PTPRK (D826V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283724	NM_002844.4(PTPRK):c.4268C>T (p.Pro1423Leu)	PTPRK (P1422L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280882	NM_002844.4(PTPRK):c.67C>T (p.Leu23Phe)	PTPRK (L23F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278684	NM_002844.4(PTPRK):c.2204C>T (p.Thr735Ile)	PTPRK (T606I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277477	NM_002844.4(PTPRK):c.3700G>A (p.Ala1234Thr)	PTPRK (A1240T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264329	NM_002844.4(PTPRK):c.1894A>G (p.Ile632Val)	PTPRK, PTPRK-AS1 (I503V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251329	NM_002844.4(PTPRK):c.1920C>A (p.His640Gln)	PTPRK, PTPRK-AS1 (H511Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247031	NM_002844.4(PTPRK):c.19G>C (p.Ala7Pro)	PTPRK (A7P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808088	GRCh37/hg19 6q22.31-22.33(chr6:120059951-130033233)x1	ARHGAP18, C6orf58 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 1527286	GRCh37/hg19 6q22.32-22.33(chr6:126419160-128801386)	C6orf58, CENPW +7 more	Copy number loss	not specified	GUncertain significance
Select item 1527284	GRCh37/hg19 6q22.31-22.33(chr6:122839432-128801386)	C6orf58, CENPW +21 more	Copy number loss	not specified	GPathogenic
Select item 1340790	GRCh37/hg19 6q22.31-22.33(chr6:125037475-129494795)x1	C6orf58, CENPW +17 more	Copy number loss	not provided	GPathogenic
Select item 981859	NM_002844.4(PTPRK):c.4196G>A (p.Arg1399Gln)	PTPRK (R1398Q +3 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 980788	GRCh37/hg19 6q22.33(chr6:128779469-129144973)x1	PTPRK	Copy number loss	not provided	GUncertain significance
Select item 916695	NM_002844.4(PTPRK):c.1796A>G (p.Tyr599Cys)	PTPRK-AS1, PTPRK (Y470C +1 more)	Single nucleotide variant (missense variant)	sellar metastasis from primary bronchial carcinoid tumor	GUncertain significance
Select item 814869	GRCh37/hg19 6q22.33(chr6:128808063-129473811)x1	PTPRK, LAMA2	Copy number loss	not provided	GUncertain significance
Select item 792053	NM_002844.4(PTPRK):c.3555C>G (p.Thr1185=)	PTPRK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 791450	NM_002844.4(PTPRK):c.485A>G (p.Asn162Ser)	PTPRK (N162S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 776153	NM_002844.4(PTPRK):c.1560C>T (p.Ile520=)	PTPRK, PTPRK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 769321	NM_002844.4(PTPRK):c.1365C>T (p.Asn455=)	PTPRK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 740486	NM_002844.4(PTPRK):c.495+7A>G	PTPRK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 563233	GRCh37/hg19 6q22.32-22.33(chr6:126419160-128801386)x1	RSPO3, ECHDC1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443603	GRCh37/hg19 6q22.33(chr6:128184355-128984867)x1	PTPRK, THEMIS	Copy number loss	See cases	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442817	GRCh37/hg19 6q22.31-23.2(chr6:122612641-131564463)x1	AKAP7, ARHGAP18 +32 more	Copy number loss	See cases	GPathogenic
Select item 442326	GRCh37/hg19 6q22.33(chr6:127303904-128482021)x1	C6orf58, PTPRK +6 more	Copy number loss	See cases	GLikely benign
Select item 154738	GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1	AKAP7, ARG1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 58445	GRCh38/hg38 6q22.32-22.33(chr6:126255554-129431726)x1	C6orf58, CENPW +34 more	Copy number loss	See cases	GPathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 90