ClinVar for Gene (Select 101928140) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
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 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 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