PTPRN2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	CADPS2, CALD1 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	TMEM139-AS1, TMEM140 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	MIR5707, MIR595 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC123956245, LOC123956246 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LOC285889, LOC349160 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999467, LOC129999468 +944 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	LOC129999526, LOC129999527 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	LOC129999649, LOC129999650 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129389950, LOC129999513 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129389931, LOC129389932 +573 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	TRC-GCA22-1, TRC-GCA23-1 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999578, LOC129999579 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	ABCB8, ABCF2 +533 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	LOC129389937, LOC129389938 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	ABCB8, ABCF2 +375 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
Select item 147505	GRCh38/hg38 7q36.1-36.3(chr7:151104277-159325876)x3	LOC129999684, LOC129999685 +315 more	Copy number gain	See cases	GPathogenic
Select item 146896	GRCh38/hg38 7q36.1-36.3(chr7:151378879-158923762)x1	ACTR3B, BLACE +271 more	Copy number loss	See cases	GPathogenic
Select item 60314	GRCh38/hg38 7q36.1-36.3(chr7:152332476-159296617)x1	RBM33, RBM33-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 150933	GRCh38/hg38 7q36.1-36.3(chr7:152428852-159335865)x3	LOC129999707, LOC129999708 +225 more	Copy number gain	See cases	GPathogenic
Select item 545343	NC_000007.14:g.(?_152454659)_(158705768_?)del	ACTR3B, BLACE +190 more	Deletion	Autism	GLikely pathogenic
Select item 147806	GRCh38/hg38 7q36.2-36.3(chr7:152807205-159325876)x1	ACTR3B, BLACE +207 more	Copy number loss	See cases	GPathogenic
Select item 146922	GRCh38/hg38 7q36.2-36.3(chr7:152860576-159325876)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 60315	GRCh38/hg38 7q36.2-36.3(chr7:152918472-159307523)x1	BLACE, CNPY1 +204 more	Copy number loss	See cases	GPathogenic
Select item 60316	GRCh38/hg38 7q36.2-36.3(chr7:152920128-159332714)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 146559	GRCh38/hg38 7q36.2-36.3(chr7:153908499-159325876)x1	BLACE, CNPY1 +195 more	Copy number loss	See cases	GPathogenic
Select item 2579275	GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1	BLACE, CNPY1 +193 more	Copy number loss	Holoprosencephaly 3	GPathogenic
Select item 147399	GRCh38/hg38 7q36.2-36.3(chr7:154939710-159325876)x1	BLACE, CNPY1 +186 more	Copy number loss	See cases	GPathogenic
Select item 57200	GRCh38/hg38 7q36.2-36.3(chr7:155007022-159135526)x1	LOC123956282, LOC123956283 +173 more	Copy number loss	See cases	GPathogenic
Select item 154568	GRCh38/hg38 7q36.3(chr7:155262313-159117047)x1	ESYT2, INSIG1 +161 more	Copy number loss	See cases	GPathogenic
Select item 149109	GRCh38/hg38 7q36.3(chr7:155379296-159335866)x3	CNPY1, DNAJB6 +156 more	Copy number gain	See cases	GLikely pathogenic
Select item 146358	GRCh38/hg38 7q36.3(chr7:155501171-159325876)x1	CNPY1, DNAJB6 +150 more	Copy number loss	See cases	GPathogenic
Select item 152725	GRCh38/hg38 7q36.3(chr7:155574967-159335866)x1	DNAJB6, DYNC2I1 +148 more	Copy number loss	See cases	GPathogenic
Select item 146785	GRCh38/hg38 7q36.3(chr7:157028893-159335865)x1	DNAJB6, DYNC2I1 +79 more	Copy number loss	See cases	GPathogenic
Select item 149686	GRCh38/hg38 7q36.3(chr7:157153628-159335866)x1	DNAJB6, DYNC2I1 +75 more	Copy number loss	See cases	GUncertain significance
Select item 58373	GRCh38/hg38 7q36.3(chr7:157271429-159282390)x3	DNAJB6, DYNC2I1 +73 more	Copy number gain	See cases	GUncertain significance
Select item 774459	NM_002847.5(PTPRN2):c.3045G>T (p.Gln1015His)	PTPRN2 (Q1015H +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2242842	NM_002847.5(PTPRN2):c.2978A>G (p.Glu993Gly)	PTPRN2 (E993G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713474	NM_002847.5(PTPRN2):c.2958C>G (p.Pro986=)	PTPRN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711018	NM_002847.5(PTPRN2):c.2958C>T (p.Pro986=)	PTPRN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2525779	NM_002847.5(PTPRN2):c.2810G>A (p.Arg937His)	PTPRN2 (R899H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742102	NM_002847.5(PTPRN2):c.2790A>G (p.Val930=)	PTPRN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715613	NM_002847.5(PTPRN2):c.2783+7C>T	PTPRN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2283253	NM_002847.5(PTPRN2):c.2690C>T (p.Thr897Ile)	PTPRN2 (T897I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149541	NM_002847.5(PTPRN2):c.2612A>G (p.Tyr871Cys)	PTPRN2 (Y854C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349927	NM_002847.5(PTPRN2):c.2554G>A (p.Gly852Ser)	PTPRN2 (G823S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610213	NM_002847.5(PTPRN2):c.2487C>A (p.Asp829Glu)	LOC126860255, PTPRN2 (D829E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741563	NM_002847.5(PTPRN2):c.2445G>A (p.Ala815=)	LOC126860255, PTPRN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 788297	NM_002847.5(PTPRN2):c.2433G>A (p.Pro811=)	LOC126860255, PTPRN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 765012	NM_002847.5(PTPRN2):c.2427C>T (p.His809=)	LOC126860255, PTPRN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725835	NM_002847.5(PTPRN2):c.2343C>T (p.Thr781=)	PTPRN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 161601	NM_002847.5(PTPRN2):c.2339T>C (p.Leu780Pro)	PTPRN2 (L780P +4 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 789293	NM_002847.5(PTPRN2):c.2333_2334insTGTGCTGACCTGTACGTACCAGCCCCGGGGGCAGGAAGCCTGGGTTACGGGCGGTGGAAACTGGC (p.Tyr782fs)	PTPRN2 (Y805fs +4 more)	Insertion (frameshift variant)	not provided	GBenign
Select item 719217	NM_002847.5(PTPRN2):c.2271G>A (p.Ala757=)	PTPRN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2340948	NM_002847.5(PTPRN2):c.2252C>T (p.Ala751Val)	PTPRN2 (A734V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725594	NM_002847.5(PTPRN2):c.2250A>G (p.Glu750=)	PTPRN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2411451	NM_002847.5(PTPRN2):c.2231G>A (p.Arg744Gln)	PTPRN2 (R706Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787541	NM_002847.5(PTPRN2):c.2184C>A (p.Gly728=)	PTPRN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 799466	NM_002847.5(PTPRN2):c.2130C>T (p.Ser710=)	PTPRN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3149539	NM_002847.5(PTPRN2):c.2122C>T (p.Arg708Cys)	PTPRN2 (R708C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260823	NM_002847.5(PTPRN2):c.2095G>A (p.Asp699Asn)	PTPRN2 (D699N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737931	NM_002847.5(PTPRN2):c.2094C>T (p.Ser698=)	PTPRN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3149537	NM_002847.5(PTPRN2):c.2070C>G (p.Ile690Met)	PTPRN2 (I673M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744375	NM_002847.5(PTPRN2):c.2054C>T (p.Pro685Leu)	PTPRN2 (P668L +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2328903	NM_002847.5(PTPRN2):c.2030G>A (p.Arg677Gln)	PTPRN2 (R660Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347593	NM_002847.5(PTPRN2):c.2018G>A (p.Arg673His)	PTPRN2 (R644H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507483	NM_002847.5(PTPRN2):c.1993G>A (p.Ala665Thr)	PTPRN2 (A627T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411533	NM_002847.5(PTPRN2):c.1885G>A (p.Val629Ile)	PTPRN2 (V629I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150991	GRCh38/hg38 7q36.3(chr7:157805561-158250833)x1	LOC110599567, LOC113687208 +9 more	Copy number loss	See cases	GLikely benign
Select item 149053	GRCh38/hg38 7q36.3(chr7:157879987-158752871)x3	ESYT2, LINC01022 +23 more	Copy number gain	See cases	GLikely benign
Select item 2461042	NM_002847.5(PTPRN2):c.1783G>A (p.Gly595Arg)	PTPRN2 (G557R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782029	NM_002847.5(PTPRN2):c.1782C>G (p.Val594=)	PTPRN2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 147687	GRCh38/hg38 7q36.3(chr7:157898696-159295947)x3	LOC129999762, LOC129999763 +46 more	Copy number gain	See cases	GPathogenic
Select item 58374	GRCh38/hg38 7q36.3(chr7:157898696-158572709)x3	LOC110599567, LOC113687208 +13 more	Copy number gain	See cases	GUncertain significance
Select item 2249410	NM_002847.5(PTPRN2):c.1732A>G (p.Lys578Glu)	PTPRN2 (K540E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154121	GRCh38/hg38 7q36.3(chr7:158067181-158592892)x3	LINC01022, LOC110599567 +11 more	Copy number gain	See cases	GUncertain significance
Select item 3149534	NM_002847.5(PTPRN2):c.1672G>A (p.Val558Met)	PTPRN2 (V520M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 145822	GRCh38/hg38 7q36.3(chr7:158082354-158591823)x3	LINC01022, LOC110599567 +11 more	Copy number gain	See cases	GLikely benign
Select item 58953	GRCh38/hg38 7q36.3(chr7:158082354-158565728)x1	LOC110599567, LOC113687208 +8 more	Copy number loss	See cases	GLikely benign
Select item 146796	GRCh38/hg38 7q36.3(chr7:158082372-158565844)x3	LOC110599567, LOC113687208 +8 more	Copy number gain	See cases	GLikely benign
Select item 727544	NM_002847.5(PTPRN2):c.1638C>T (p.Asp546=)	PTPRN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2408745	NM_002847.5(PTPRN2):c.1583G>A (p.Arg528Gln)	PTPRN2 (R490Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3149533	NM_002847.5(PTPRN2):c.1582C>T (p.Arg528Trp)	PTPRN2 (R528W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408961	NM_002847.5(PTPRN2):c.1564C>T (p.Arg522Cys)	PTPRN2 (R505C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149532	NM_002847.5(PTPRN2):c.1543G>A (p.Val515Met)	PTPRN2 (V477M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726682	NM_002847.5(PTPRN2):c.1531C>A (p.Arg511=)	PTPRN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602947	NM_002847.5(PTPRN2):c.1529C>T (p.Ala510Val)	PTPRN2 (A493V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302541	NM_002847.5(PTPRN2):c.1487G>A (p.Ser496Asn)	PTPRN2 (S479N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330096	NM_002847.5(PTPRN2):c.1466C>T (p.Ala489Val)	PTPRN2 (A472V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403609	NM_002847.5(PTPRN2):c.1402G>A (p.Ala468Thr)	PTPRN2 (A451T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149531	NM_002847.5(PTPRN2):c.1396G>A (p.Gly466Arg)	PTPRN2 (G428R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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