ClinVar for Gene (Select 5799) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311638	NM_002847.5(PTPRN2):c.1034A>T (p.His345Leu)	PTPRN2 (H307L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311637	NM_002847.5(PTPRN2):c.2039A>G (p.Asp680Gly)	PTPRN2 (D642G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311636	NM_002847.5(PTPRN2):c.1257G>T (p.Arg419Ser)	PTPRN2 (R381S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311635	NM_002847.5(PTPRN2):c.997G>A (p.Ala333Thr)	PTPRN2 (A295T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311634	NM_002847.5(PTPRN2):c.1784G>T (p.Gly595Val)	PTPRN2 (G557V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311633	NM_002847.5(PTPRN2):c.1555G>A (p.Asp519Asn)	PTPRN2 (D502N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311632	NM_002847.5(PTPRN2):c.881A>T (p.Asp294Val)	PTPRN2 (D256V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311630	NM_002847.5(PTPRN2):c.1810C>T (p.Pro604Ser)	PTPRN2 (P575S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311629	NM_002847.5(PTPRN2):c.2721C>G (p.His907Gln)	PTPRN2 (H869Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311628	NM_002847.5(PTPRN2):c.455G>A (p.Arg152Gln)	PTPRN2 (R135Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3311627	NM_002847.5(PTPRN2):c.478G>A (p.Ala160Thr)	PTPRN2 (A143T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311626	NM_002847.5(PTPRN2):c.2606A>G (p.His869Arg)	PTPRN2 (H869R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311625	NM_002847.5(PTPRN2):c.1240G>A (p.Ala414Thr)	PTPRN2 (A376T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311624	NM_002847.5(PTPRN2):c.2119G>A (p.Ala707Thr)	PTPRN2 (A690T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311623	NM_002847.5(PTPRN2):c.1568C>A (p.Pro523His)	PTPRN2 (P485H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311622	NM_002847.5(PTPRN2):c.1054C>T (p.Pro352Ser)	PTPRN2 (P352S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311621	NM_002847.5(PTPRN2):c.1682A>G (p.Asn561Ser)	PTPRN2 (N532S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311619	NM_002847.5(PTPRN2):c.2098G>C (p.Gly700Arg)	PTPRN2 (G683R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311618	NM_002847.5(PTPRN2):c.2875G>C (p.Asp959His)	PTPRN2 (D921H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149553	NM_002847.5(PTPRN2):c.994A>T (p.Met332Leu)	PTPRN2 (M294L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149552	NM_002847.5(PTPRN2):c.961G>A (p.Val321Met)	PTPRN2 (V283M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149550	NM_002847.5(PTPRN2):c.808C>T (p.Arg270Cys)	PTPRN2 (R270C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149549	NM_002847.5(PTPRN2):c.71C>G (p.Pro24Arg)	PTPRN2 (P24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149548	NM_002847.5(PTPRN2):c.656G>A (p.Arg219Gln)	PTPRN2 (R202Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3149547	NM_002847.5(PTPRN2):c.655C>T (p.Arg219Trp)	PTPRN2 (R181W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149545	NM_002847.5(PTPRN2):c.560G>A (p.Arg187His)	PTPRN2 (R187H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149544	NM_002847.5(PTPRN2):c.527C>T (p.Ala176Val)	PTPRN2 (A199V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149543	NM_002847.5(PTPRN2):c.440T>G (p.Leu147Arg)	PTPRN2 (L109R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149542	NM_002847.5(PTPRN2):c.269C>A (p.Ser90Tyr)	PTPRN2 (S90Y +2 more)	Single nucleotide variant (missense variant +1 more)	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 3149540	NM_002847.5(PTPRN2):c.238C>A (p.Gln80Lys)	PTPRN2 (Q63K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 3149536	NM_002847.5(PTPRN2):c.190G>A (p.Val64Ile)	PTPRN2 (V47I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149535	NM_002847.5(PTPRN2):c.169G>A (p.Val57Met)	PTPRN2 (V40M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 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 3149531	NM_002847.5(PTPRN2):c.1396G>A (p.Gly466Arg)	PTPRN2 (G428R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149530	NM_002847.5(PTPRN2):c.1258C>T (p.Pro420Ser)	PTPRN2 (P382S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3149528	NM_002847.5(PTPRN2):c.103G>A (p.Gly35Arg)	PTPRN2 (G35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062957	GRCh37/hg19 7q36.3(chr7:155607058-159119707)x1	DNAJB6, DYNC2I1 +9 more	Copy number loss	not specified	GPathogenic
Select item 2685279	GRCh37/hg19 7q36.3(chr7:157662760-157732786)x1	PTPRN2	Copy number loss	not provided	GUncertain significance
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2684511	GRCh37/hg19 7q36.3(chr7:158304929-159073358)x3	DYNC2I1, ESYT2 +3 more	Copy number gain	not provided	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 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 2590797	NM_002847.5(PTPRN2):c.107G>A (p.Arg36His)	PTPRN2 (R36H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589154	NM_002847.5(PTPRN2):c.1250T>A (p.Phe417Tyr)	PTPRN2 (F400Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2533401	NM_002847.5(PTPRN2):c.718C>T (p.His240Tyr)	PTPRN2 (H223Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2481508	NM_002847.5(PTPRN2):c.104G>C (p.Gly35Ala)	PTPRN2 (G35A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466167	NM_002847.5(PTPRN2):c.953C>T (p.Pro318Leu)	PTPRN2 (P301L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2422565	NC_000007.13:g.(?_152617597)_(158500659_?)del	INSIG1, LMBR1 +13 more	Deletion	not provided	GPathogenic
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 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 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 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 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 2401845	NM_002847.5(PTPRN2):c.1000G>A (p.Glu334Lys)	PTPRN2 (E317K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392562	NM_002847.5(PTPRN2):c.872C>T (p.Pro291Leu)	PTPRN2 (P253L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387217	NM_002847.5(PTPRN2):c.392A>G (p.His131Arg)	PTPRN2 (H131R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384786	NM_002847.5(PTPRN2):c.541C>T (p.Pro181Ser)	PTPRN2 (P143S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361411	NM_002847.5(PTPRN2):c.524C>T (p.Thr175Met)	PTPRN2 (T175M +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2358701	NM_002847.5(PTPRN2):c.731C>T (p.Ala244Val)	PTPRN2 (A227V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357883	NM_002847.5(PTPRN2):c.818C>T (p.Ser273Leu)	PTPRN2 (S296L +3 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 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 2342792	NM_002847.5(PTPRN2):c.104G>A (p.Gly35Glu)	PTPRN2 (G35E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 2312260	NM_002847.5(PTPRN2):c.646C>T (p.Leu216Phe)	PTPRN2 (L216F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305217	NM_002847.5(PTPRN2):c.95A>G (p.Gln32Arg)	PTPRN2 (Q32R)	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 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 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 2251649	NM_002847.5(PTPRN2):c.248G>T (p.Arg83Leu)	PTPRN2 (R106L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 2237888	NM_002847.5(PTPRN2):c.1198G>A (p.Gly400Arg)	PTPRN2 (G362R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809157	GRCh37/hg19 7q36.3(chr7:158311347-158531086)x3	ESYT2, NCAPG2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1809124	GRCh37/hg19 7q36.3(chr7:157412832-158291755)x1	PTPRN2	Copy number loss	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1705937	GRCh37/hg19 7q36.3(chr7:155389460-157960969)x1	RBM33, DNAJB6 +7 more	Copy number loss	Microcephaly	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527417	GRCh37/hg19 7q36.3(chr7:158311346-158945929)	DYNC2I1, ESYT2 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1341986	GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1	ACTR3C, AGAP3 +65 more	Copy number loss	not provided	GPathogenic
Select item 1341970	GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3	CUL1, DNAJB6 +80 more	Copy number gain	not provided	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1340734	GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3	ACTR3C, ABCB8 +75 more	Copy number gain	not provided	GPathogenic

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