9676[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 149033	GRCh38/hg38 2q35(chr2:219081620-219758878)x3	ABCB6, ANKZF1 +77 more	Copy number gain	See cases	GUncertain significance
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 473301	NC_000002.11:g.(?_220150706)_(220290732_?)dup	DES, DES-LCR +14 more	Duplication	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 2322517	NM_002846.4(PTPRN):c.2900C>T (p.Ala967Val)	PTPRN (A877V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149516	NM_002846.4(PTPRN):c.2896G>A (p.Val966Met)	PTPRN (V937M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485502	NM_002846.4(PTPRN):c.2861G>A (p.Arg954His)	PTPRN (R864H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149515	NM_002846.4(PTPRN):c.2766C>G (p.Ile922Met)	PTPRN (I922M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311615	NM_002846.4(PTPRN):c.2741G>A (p.Gly914Glu)	PTPRN (G824E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149514	NM_002846.4(PTPRN):c.2716A>G (p.Ile906Val)	PTPRN (I816V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311612	NM_002846.4(PTPRN):c.2701C>T (p.Arg901Cys)	PTPRN (R811C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311614	NM_002846.4(PTPRN):c.2644G>A (p.Ala882Thr)	LOC120977025, PTPRN (A792T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149513	NM_002846.4(PTPRN):c.2615T>A (p.Phe872Tyr)	LOC120977025, PTPRN (F872Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149512	NM_002846.4(PTPRN):c.2582C>A (p.Thr861Asn)	LOC120977025, PTPRN (T861N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149511	NM_002846.4(PTPRN):c.2576T>G (p.Val859Gly)	LOC120977025, PTPRN (V859G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208256	NM_002846.4(PTPRN):c.2503T>C (p.Tyr835His)	PTPRN (Y745H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739550	NM_002846.4(PTPRN):c.2490C>T (p.Ser830=)	PTPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3149510	NM_002846.4(PTPRN):c.2414T>A (p.Val805Asp)	PTPRN (V715D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311611	NM_002846.4(PTPRN):c.2404G>A (p.Gly802Ser)	PTPRN (G712S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278292	NM_002846.4(PTPRN):c.2390T>C (p.Met797Thr)	PTPRN (M768T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149509	NM_002846.4(PTPRN):c.2369C>T (p.Thr790Ile)	PTPRN (T700I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389334	NM_002846.4(PTPRN):c.2251A>G (p.Ile751Val)	PTPRN (I722V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619577	NM_002846.4(PTPRN):c.2186C>T (p.Ala729Val)	PTPRN (A639V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462631	NM_002846.4(PTPRN):c.2158C>G (p.Gln720Glu)	PTPRN (Q630E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515713	NM_002846.4(PTPRN):c.2123G>A (p.Arg708His)	PTPRN (R618H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599570	NM_002846.4(PTPRN):c.2116C>T (p.Arg706Trp)	PTPRN (R677W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311613	NM_002846.4(PTPRN):c.2100G>T (p.Glu700Asp)	PTPRN (E700D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621907	NM_002846.4(PTPRN):c.2090C>T (p.Ala697Val)	PTPRN (A607V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149508	NM_002846.4(PTPRN):c.2072C>T (p.Thr691Met)	PTPRN (T691M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280277	NM_002846.4(PTPRN):c.1940G>C (p.Gly647Ala)	PTPRN (G647A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261276	NM_002846.4(PTPRN):c.1933G>A (p.Ala645Thr)	PTPRN (A645T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651919	NM_002846.4(PTPRN):c.1914G>A (p.Thr638=)	PTPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3149507	NM_002846.4(PTPRN):c.1898G>A (p.Arg633His)	PTPRN (R543H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149505	NM_002846.4(PTPRN):c.1798G>A (p.Val600Met)	PTPRN (V510M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2268136	NM_002846.4(PTPRN):c.1792C>G (p.Leu598Val)	PTPRN (L569V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376697	NM_002846.4(PTPRN):c.1724G>A (p.Arg575His)	PTPRN (R485H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149503	NM_002846.4(PTPRN):c.1721T>C (p.Met574Thr)	PTPRN (M484T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487348	NM_002846.4(PTPRN):c.1657G>A (p.Gly553Arg)	PTPRN (G524R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316461	NM_002846.4(PTPRN):c.1572C>G (p.Asn524Lys)	PTPRN (N495K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411380	NM_002846.4(PTPRN):c.1555C>T (p.Arg519Trp)	PTPRN (R429W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282386	NM_002846.4(PTPRN):c.1546T>C (p.Phe516Leu)	PTPRN (F516L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377614	NM_002846.4(PTPRN):c.1544C>T (p.Thr515Ile)	PTPRN (T425I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149502	NM_002846.4(PTPRN):c.1446C>A (p.Ser482Arg)	PTPRN (S482R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149501	NM_002846.4(PTPRN):c.1420A>G (p.Ile474Val)	PTPRN (I474V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515600	NM_002846.4(PTPRN):c.1394G>A (p.Arg465His)	PTPRN (R465H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311609	NM_002846.4(PTPRN):c.1342A>G (p.Lys448Glu)	PTPRN (K448E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328586	NM_002846.4(PTPRN):c.1213A>G (p.Thr405Ala)	PTPRN (T315A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378803	NM_002846.4(PTPRN):c.1211G>A (p.Arg404His)	PTPRN (R314H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149500	NM_002846.4(PTPRN):c.1191C>A (p.Asp397Glu)	PTPRN (D307E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149499	NM_002846.4(PTPRN):c.1190A>T (p.Asp397Val)	PTPRN (D307V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 761257	NM_002846.4(PTPRN):c.1176G>A (p.Pro392=)	PTPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3149498	NM_002846.4(PTPRN):c.1124C>T (p.Pro375Leu)	PTPRN (P285L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2395966	NM_002846.4(PTPRN):c.1018G>A (p.Ala340Thr)	PTPRN (A340T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720555	NM_002846.4(PTPRN):c.999G>A (p.Ala333=)	PTPRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2613765	NM_002846.4(PTPRN):c.964G>A (p.Glu322Lys)	PTPRN (E232K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149527	NM_002846.4(PTPRN):c.923C>A (p.Ser308Tyr)	PTPRN (S308Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149526	NM_002846.4(PTPRN):c.911G>A (p.Arg304Gln)	PTPRN (R214Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2224191	NM_002846.4(PTPRN):c.880C>T (p.Pro294Ser)	PTPRN (P204S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149525	NM_002846.4(PTPRN):c.870G>C (p.Arg290Ser)	PTPRN (R200S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149524	NM_002846.4(PTPRN):c.824A>C (p.Asp275Ala)	PTPRN (D185A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149523	NM_002846.4(PTPRN):c.784G>A (p.Gly262Arg)	PTPRN (G262R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149522	NM_002846.4(PTPRN):c.746C>G (p.Ser249Cys)	PTPRN (S159C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149521	NM_002846.4(PTPRN):c.745T>G (p.Ser249Ala)	PTPRN (S159A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311616	NM_002846.4(PTPRN):c.650G>T (p.Arg217Leu)	PTPRN (R217L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269322	NM_002846.4(PTPRN):c.650G>A (p.Arg217His)	PTPRN (R217H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149520	NM_002846.4(PTPRN):c.613T>G (p.Leu205Val)	PTPRN (L115V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468597	NM_002846.4(PTPRN):c.502G>A (p.Gly168Arg)	PTPRN (G168R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149519	NM_002846.4(PTPRN):c.491A>G (p.Lys164Arg)	PTPRN (K74R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3149518	NM_002846.4(PTPRN):c.449C>T (p.Ala150Val)	PTPRN (A150V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149517	NM_002846.4(PTPRN):c.386T>C (p.Leu129Ser)	PTPRN (L39S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292263	NM_002846.4(PTPRN):c.371G>C (p.Arg124Thr)	PTPRN (R34T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316124	NM_002846.4(PTPRN):c.263G>A (p.Arg88Gln)	PTPRN (R88Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 714166	NM_002846.4(PTPRN):c.207C>T (p.Ala69=)	PTPRN	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3149506	NM_002846.4(PTPRN):c.188A>G (p.Gln63Arg)	PTPRN (Q63R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311617	NM_002846.4(PTPRN):c.143C>G (p.Ser48Cys)	PTPRN (S48C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240120	NM_002846.4(PTPRN):c.31G>A (p.Gly11Arg)	PTPRN (G11R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685877	GRCh37/hg19 2q35(chr2:220169575-220625221)x3	ASIC4, CHPF +11 more	Copy number gain	not provided	GUncertain significance
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1434778	NC_000002.11:g.(?_218999525)_(220435954_?)dup	DES, DNAJB2 +50 more	Duplication	Alacrima, achalasia, and intellectual disability syndrome +1 more	GUncertain significance
Select item 1180532	GRCh37/hg19 2q35-36.3(chr2:220056891-227164817)x1	PTPRN, RESP18 +36 more	Copy number loss	not provided	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
Select item 686962	GRCh37/hg19 2q35(chr2:219879593-220346596)x3	ABCB6, ANKZF1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 583449	NC_000002.11:g.(?_219135239)_(220290732_?)del	CNPPD1, DNAJB2 +39 more	Deletion	Desmin-related myofibrillar myopathy	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562674	GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1	AAMP, ABCB6 +71 more	Copy number loss	not provided	GPathogenic

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