ClinVar for Gene (Select 10016) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3210585	NM_013232.4(PDCD6):c.167C>A (p.Thr56Lys)	PDCD6, PDCD6-AHRR (T56K)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3210584	NM_013232.4(PDCD6):c.162C>G (p.Asn54Lys)	PDCD6, PDCD6-AHRR (N54K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3148940	GRCh37/hg19 5p15.33(chr5:113577-2191119)x1	AHRR, BRD9 +24 more	Copy number loss	See cases	GUncertain significance
Select item 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	MRPL36, MTRR +70 more	Copy number gain	not provided	GPathogenic
Select item 3148923	GRCh37/hg19 5p15.33-15.2(chr5:113577-13341742)x1	ADAMTS16, ADCY2 +49 more	Copy number loss	not provided	GPathogenic
Select item 3062870	GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1	ADAMTS16, ADCY2 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062868	GRCh37/hg19 5p15.33-15.31(chr5:113576-7436985)x1	ADAMTS16, ADCY2 +35 more	Copy number loss	not specified	GPathogenic
Select item 3062864	GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062863	GRCh37/hg19 5p15.33(chr5:113576-676873)x3	AHRR, CCDC127 +9 more	Copy number gain	not specified	GUncertain significance
Select item 3062860	GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062835	GRCh37/hg19 5p15.33(chr5:113576-3612214)x1	AHRR, BRD9 +27 more	Copy number loss	not specified	GPathogenic
Select item 3062831	GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not specified	GPathogenic
Select item 3062815	GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not specified	GPathogenic
Select item 2685142	GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1	ADAMTS16, ADCY2 +62 more	Copy number loss	not provided	GPathogenic
Select item 2685141	GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685140	GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
Select item 2655242	NM_013232.4(PDCD6):c.105C>T (p.Val35=)	PDCD6, PDCD6-AHRR	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 2570142	NM_013232.4(PDCD6):c.330C>G (p.Ile110Met)	PDCD6, PDCD6-AHRR (I40M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559104	NM_013232.4(PDCD6):c.154C>G (p.Leu52Val)	PDCD6, PDCD6-AHRR (L52V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2481898	NM_013232.4(PDCD6):c.301A>G (p.Thr101Ala)	PDCD6, PDCD6-AHRR (T101A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408440	NM_013232.4(PDCD6):c.302C>T (p.Thr101Met)	PDCD6, PDCD6-AHRR (T101M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389323	NM_013232.4(PDCD6):c.149A>G (p.Gln50Arg)	PDCD6, PDCD6-AHRR (Q50R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2381565	NM_013232.4(PDCD6):c.407G>A (p.Arg136Gln)	PDCD6-AHRR, PDCD6 (R68Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321109	NM_013232.4(PDCD6):c.490A>G (p.Ile164Val)	PDCD6, PDCD6-AHRR (I164V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272431	NM_013232.4(PDCD6):c.154C>T (p.Leu52Phe)	PDCD6, PDCD6-AHRR (L52F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2261683	NM_013232.4(PDCD6):c.416A>G (p.Asp139Gly)	PDCD6, PDCD6-AHRR (D69G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252883	NM_013232.4(PDCD6):c.373C>T (p.Arg125Trp)	PDCD6, PDCD6-AHRR (R123W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250323	NM_013232.4(PDCD6):c.68C>T (p.Pro23Leu)	LOC129993532, PDCD6 +1 more (P23L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2225202	NM_013232.4(PDCD6):c.298C>T (p.Arg100Cys)	PDCD6, PDCD6-AHRR (R100C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809293	GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1	ADAMTS16, ADCY2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1809200	GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not provided	GPathogenic
Select item 1808928	GRCh37/hg19 5p15.33(chr5:150265-668842)x3	AHRR, CCDC127 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1808602	GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not provided	GPathogenic
Select item 1808494	GRCh37/hg19 5p15.33(chr5:113577-380112)x1	AHRR, CCDC127 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1808300	GRCh37/hg19 5p15.33(chr5:113577-316451)x3	AHRR, CCDC127 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808129	GRCh37/hg19 5p15.33(chr5:113577-424937)x3	AHRR, CCDC127 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1807906	GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1	ADAMTS16, ADCY2 +71 more	Copy number loss	not provided	GPathogenic
Select item 1711872	GRCh37/hg19 5p15.33(chr5:113576-2027194)x1	AHRR, BRD9 +24 more	Copy number loss	See cases	GPathogenic
Select item 1707436	GRCh37/hg19 5p15.33-15.31(chr5:113576-8007018)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	See cases	GPathogenic
Select item 1706484	GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	See cases	GPathogenic
Select item 1705881	GRCh37/hg19 5p15.33(chr5:26141-2537457)x3	NDUFS6, NKD2 +24 more	Copy number gain	Global developmental delay	GUncertain significance
Select item 1703686	GRCh37/hg19 5p15.33-15.2(chr5:113576-12601027)	ADAMTS16, ADCY2 +48 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 1703685	GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520)	ADAMTS16, ADCY2 +67 more	Copy number gain	5p partial monosomy syndrome	GPathogenic
Select item 1459245	NC_000005.9:g.(?_218471)_(1895829_?)del	AHRR, BRD9 +21 more	Deletion	Parkinsonism-dystonia, infantile	GPathogenic
Select item 1341272	GRCh37/hg19 5p15.33(chr5:194236-306683)x1	AHRR, CCDC127 +3 more	Copy number loss	not provided	GLikely benign
Select item 1341183	GRCh37/hg19 5p15.33(chr5:150264-362735)x3	AHRR, CCDC127 +4 more	Copy number gain	not provided	GLikely benign
Select item 1340680	GRCh37/hg19 5p15.33(chr5:113577-2276310)x1	AHRR, BRD9 +24 more	Copy number loss	not provided	GUncertain significance
Select item 1340533	GRCh37/hg19 5p15.33-15.1(chr5:113577-16952167)x1	ADAMTS16, ADCY2 +60 more	Copy number loss	not provided	GPathogenic
Select item 1180547	GRCh37/hg19 5p15.33(chr5:13200-4012072)x1	AHRR, BRD9 +27 more	Copy number loss	not provided	GPathogenic
Select item 1012369	GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1	MARCHF11, MARCHF6 +67 more	Copy number loss	See cases	GPathogenic
Select item 979673	GRCh37/hg19 5p15.33(chr5:113576-1286005)x1	AHRR, BRD9 +18 more	Copy number loss	not provided	GUncertain significance
Select item 979670	GRCh37/hg19 5p15.33(chr5:113576-4305172)x1	AHRR, BRD9 +27 more	Copy number loss	not provided	GPathogenic
Select item 915985	GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969)	LPCAT1, MYO10 +63 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 831918	NC_000005.10:g.(?_218349)_(1297373_?)del	NKD2, PDCD6 +15 more	Deletion	Dyskeratosis congenita, autosomal dominant 2 +1 more	GPathogenic
Select item 831255	NC_000005.10:g.(?_218346)_(1295046_?)del	AHRR, BRD9 +15 more	Deletion	Dyskeratosis congenita, autosomal dominant 2 +1 more	GPathogenic
Select item 830662	NC_000005.10:g.(?_218349)_(1297373_?)dup	ZDHHC11B, ZDHHC11 +15 more	Duplication	Interstitial lung disease 2 +1 more	GUncertain significance
Select item 814656	GRCh37/hg19 5p15.33-15.32(chr5:113576-5194484)x1	ADAMTS16, AHRR +28 more	Copy number loss	not provided	GPathogenic
Select item 814655	GRCh37/hg19 5p15.33-15.32(chr5:113576-5657333)x1	ADAMTS16, AHRR +29 more	Copy number loss	not provided	GPathogenic
Select item 814654	GRCh37/hg19 5p15.33-15.2(chr5:113576-11767720)x1	SLC9A3, SRD5A1 +48 more	Copy number loss	not provided	GPathogenic
Select item 814653	GRCh37/hg19 5p15.33-15.2(chr5:113576-14738180)x1	ADAMTS16, ADCY2 +55 more	Copy number loss	not provided	GPathogenic
Select item 814652	GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1	ADAMTS16, ADCY2 +63 more	Copy number loss	not provided	GPathogenic
Select item 814651	GRCh37/hg19 5p15.33(chr5:113576-4325585)x1	AHRR, BRD9 +27 more	Copy number loss	not provided	GPathogenic
Select item 814650	GRCh37/hg19 5p15.33(chr5:113576-2485820)x1	AHRR, BRD9 +24 more	Copy number loss	not provided	GUncertain significance
Select item 687314	GRCh37/hg19 5p15.33(chr5:230777-437815)x3	AHRR, PDCD6 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685404	GRCh37/hg19 5p15.33(chr5:306980-599485)x3	AHRR, EXOC3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 625702	GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158)	ADAMTS16, ADCY2 +40 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 625701	GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925)	ADAMTS16, ADCY2 +67 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 624532	GRCh37/hg19 5p15.33(chr5:52186-4163906)x1	AHRR, BRD9 +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 563028	GRCh37/hg19 5p15.33(chr5:137017-362735)x3	PDCD6, AHRR +4 more	Copy number gain	not provided	GLikely benign
Select item 563027	GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3	ADAMTS12, ADAMTS16 +90 more	Copy number gain	not provided	GPathogenic
Select item 563026	GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not provided	GPathogenic
Select item 563025	GRCh37/hg19 5p15.33-15.1(chr5:113576-15822225)x1	ADAMTS16, ADCY2 +56 more	Copy number loss	not provided	GPathogenic
Select item 563024	GRCh37/hg19 5p15.33-15.31(chr5:113576-7946262)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	not provided	GPathogenic
Select item 563023	GRCh37/hg19 5p15.33-15.32(chr5:113576-6125331)x1	ADAMTS16, AHRR +29 more	Copy number loss	not provided	GPathogenic
Select item 563022	GRCh37/hg19 5p15.33-15.32(chr5:113576-5884399)x1	ADAMTS16, AHRR +29 more	Copy number loss	not provided	GPathogenic
Select item 563021	GRCh37/hg19 5p15.33(chr5:113576-1816055)x1	AHRR, BRD9 +23 more	Copy number loss	not provided	GPathogenic
Select item 563020	GRCh37/hg19 5p15.33(chr5:113576-1708530)x1	AHRR, BRD9 +21 more	Copy number loss	not provided	GPathogenic
Select item 563019	GRCh37/hg19 5p15.33(chr5:113576-348598)x1	LRRC14B, AHRR +4 more	Copy number loss	not provided	GUncertain significance
Select item 446326	GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	See cases	GPathogenic
Select item 443692	GRCh37/hg19 5p15.33-14.3(chr5:113576-23047959)x1	ADAMTS16, ADCY2 +63 more	Copy number loss	See cases	GPathogenic
Select item 443691	GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3	ADAMTS16, ADCY2 +62 more	Copy number gain	See cases	GPathogenic
Select item 443598	GRCh37/hg19 5p15.33-15.32(chr5:113576-5380741)x1	ADAMTS16, AHRR +28 more	Copy number loss	See cases	GPathogenic
Select item 443451	GRCh37/hg19 5p15.33-14.1(chr5:113576-26234903)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	See cases	GPathogenic
Select item 443058	GRCh37/hg19 5p15.33-14.1(chr5:113576-25091472)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	See cases	GPathogenic
Select item 442940	GRCh37/hg19 5p15.33-15.2(chr5:113576-10163809)x1	ADAMTS16, ADCY2 +40 more	Copy number loss	See cases	GPathogenic
Select item 442928	GRCh37/hg19 5p15.33-14.1(chr5:113576-26948599)x1	CTNND2, DAP +67 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441820	GRCh37/hg19 5p15.33-15.2(chr5:113576-10729838)x1	ADAMTS16, ADCY2 +47 more	Copy number loss	See cases	GPathogenic
Select item 441756	GRCh37/hg19 5p15.33(chr5:113576-4175855)x1	AHRR, BRD9 +27 more	Copy number loss	See cases	GPathogenic
Select item 441752	GRCh37/hg19 5p15.33-15.1(chr5:113576-15291661)x1	SDHA, SEMA5A +55 more	Copy number loss	See cases	GPathogenic
Select item 395597	GRCh37/hg19 5p15.33-14.3(chr5:79146-22152284)x1	ADAMTS16, ADCY2 +63 more	Copy number loss	See cases	GPathogenic
Select item 395562	GRCh37/hg19 5p15.33(chr5:22149-2965987)x1	AHRR, BRD9 +26 more	Copy number loss	See cases	GPathogenic
Select item 395342	GRCh37/hg19 5p15.33-15.2(chr5:22149-9958240)x1	ADAMTS16, ADCY2 +40 more	Copy number loss	See cases	GPathogenic
Select item 394765	GRCh37/hg19 5p15.33-15.31(chr5:22149-6500967)x1	ADAMTS16, AHRR +31 more	Copy number loss	See cases	GPathogenic
Select item 394581	GRCh37/hg19 5p15.33(chr5:22149-4163847)x1	AHRR, BRD9 +27 more	Copy number loss	See cases	GPathogenic
Select item 394397	GRCh37/hg19 5p15.33-15.32(chr5:22149-4641409)x1	AHRR, BRD9 +27 more	Copy number loss	See cases	GPathogenic

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