ClinVar for Gene (Select 133957) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 175

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	ADAMTS16, ADCY2 +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 3138329	NM_145265.3(CCDC127):c.736G>A (p.Glu246Lys)	CCDC127 (E246K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138327	NM_145265.3(CCDC127):c.547C>T (p.Arg183Trp)	CCDC127 (R183W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138326	NM_145265.3(CCDC127):c.394A>G (p.Arg132Gly)	CCDC127 (R132G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138325	NM_145265.3(CCDC127):c.320T>C (p.Ile107Thr)	CCDC127 (I107T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2612736	NM_145265.3(CCDC127):c.260A>G (p.Gln87Arg)	CCDC127 (Q87R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611816	NM_145265.3(CCDC127):c.580G>T (p.Ala194Ser)	CCDC127 (A194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2557089	NM_145265.3(CCDC127):c.100A>G (p.Met34Val)	CCDC127 (M34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556716	NM_145265.3(CCDC127):c.680A>G (p.Lys227Arg)	CCDC127 (K227R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555782	NM_145265.3(CCDC127):c.182G>A (p.Arg61Gln)	CCDC127 (R61Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2553757	NM_145265.3(CCDC127):c.38G>A (p.Arg13Gln)	CCDC127 (R13Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515465	NM_145265.3(CCDC127):c.53C>T (p.Ala18Val)	CCDC127 (A18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494086	NM_145265.3(CCDC127):c.352A>G (p.Lys118Glu)	CCDC127 (K118E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402430	NM_145265.3(CCDC127):c.173C>A (p.Ala58Asp)	CCDC127 (A58D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350023	NM_145265.3(CCDC127):c.586G>A (p.Val196Ile)	CCDC127 (V196I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339388	NM_145265.3(CCDC127):c.500C>T (p.Thr167Ile)	CCDC127 (T167I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322341	NM_145265.3(CCDC127):c.233T>C (p.Ile78Thr)	CCDC127 (I78T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315917	NM_145265.3(CCDC127):c.37C>T (p.Arg13Trp)	CCDC127 (R13W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302649	NM_145265.3(CCDC127):c.574G>T (p.Val192Leu)	CCDC127 (V192L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302005	NM_145265.3(CCDC127):c.164A>C (p.Glu55Ala)	CCDC127 (E55A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299084	NM_145265.3(CCDC127):c.647A>G (p.Asp216Gly)	CCDC127 (D216G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243318	NM_145265.3(CCDC127):c.538C>T (p.Arg180Cys)	CCDC127 (R180C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236699	NM_145265.3(CCDC127):c.710A>G (p.Tyr237Cys)	CCDC127 (Y237C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228824	NM_145265.3(CCDC127):c.521G>A (p.Cys174Tyr)	CCDC127 (C174Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213390	NM_145265.3(CCDC127):c.311A>T (p.Glu104Val)	CCDC127 (E104V)	Single nucleotide variant (missense variant)	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 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 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 685095	GRCh37/hg19 5p15.33(chr5:136735-238729)x3	CCDC127, LRRC14B +2 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	ADAMTS16, ADCY2 +67 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +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	ADAMTS16, ADCY2 +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 395582	GRCh37/hg19 5p15.33(chr5:151638-235584)x3	CCDC127, LRRC14B +2 more	Copy number gain	See cases	GLikely benign

<< First< Prev

Page of 2