ClinVar for Gene (Select 108) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269315	NM_020546.3(ADCY2):c.1183G>A (p.Val395Met)	ADCY2 (V395M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269296	NM_020546.3(ADCY2):c.1879G>A (p.Val627Ile)	ADCY2 (V627I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3234437	NM_020546.3(ADCY2):c.2061A>G (p.Thr687=)	ADCY2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3081491	NM_020546.3(ADCY2):c.80C>G (p.Pro27Arg)	ADCY2 (P27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081477	NM_020546.3(ADCY2):c.3103G>A (p.Gly1035Arg)	ADCY2 (G1035R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081467	NM_020546.3(ADCY2):c.2881C>A (p.Gln961Lys)	ADCY2 (Q961K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081458	NM_020546.3(ADCY2):c.2224T>C (p.Tyr742His)	ADCY2 (Y742H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081454	NM_020546.3(ADCY2):c.2089A>G (p.Asn697Asp)	ADCY2 (N697D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081437	NM_020546.3(ADCY2):c.2081C>A (p.Ala694Asp)	ADCY2 (A694D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081409	NM_020546.3(ADCY2):c.1988T>C (p.Met663Thr)	ADCY2 (M663T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081395	NM_020546.3(ADCY2):c.190G>T (p.Val64Phe)	ADCY2 (V64F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081353	NM_020546.3(ADCY2):c.115T>C (p.Cys39Arg)	ADCY2 (C39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068433	NM_020546.3(ADCY2):c.1489T>A (p.Tyr497Asn)	ADCY2 (Y497N)	Single nucleotide variant (missense variant)	ADCY2-related disorder	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 3062869	GRCh37/hg19 5p15.33-15.1(chr5:3272715-17317051)x1	ADAMTS16, ADCY2 +33 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 3062860	GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1	ADAMTS16, ADCY2 +61 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 3062827	GRCh37/hg19 5p15.32-13.3(chr5:5259461-29748394)x1	ADAMTS16, ADCY2 +38 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 2685145	GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	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 2673003	NM_020546.3(ADCY2):c.2766C>T (p.Asp922=)	ADCY2	Single nucleotide variant (synonymous variant)	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 2534026	NM_020546.3(ADCY2):c.1333G>T (p.Asp445Tyr)	ADCY2 (D445Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521460	NM_020546.3(ADCY2):c.2084T>C (p.Val695Ala)	ADCY2 (V695A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519258	NM_020546.3(ADCY2):c.1933G>A (p.Val645Ile)	ADCY2 (V645I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512030	NM_020546.3(ADCY2):c.2036G>A (p.Arg679Gln)	ADCY2 (R679Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488822	NM_020546.3(ADCY2):c.1901C>T (p.Ala634Val)	ADCY2 (A634V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461750	NM_020546.3(ADCY2):c.3238A>G (p.Met1080Val)	ADCY2 (M1080V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409680	NM_020546.3(ADCY2):c.1430T>A (p.Phe477Tyr)	ADCY2 (F477Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401948	NM_020546.3(ADCY2):c.2087T>C (p.Phe696Ser)	ADCY2 (F696S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397966	NM_020546.3(ADCY2):c.2090A>G (p.Asn697Ser)	ADCY2 (N697S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376452	NM_020546.3(ADCY2):c.2077A>T (p.Met693Leu)	ADCY2 (M693L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374156	NM_020546.3(ADCY2):c.2081C>G (p.Ala694Gly)	ADCY2 (A694G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347404	NM_020546.3(ADCY2):c.2902A>G (p.Met968Val)	ADCY2 (M968V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331088	NM_020546.3(ADCY2):c.2525G>A (p.Arg842Gln)	ADCY2 (R842Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2325314	NM_020546.3(ADCY2):c.1502G>C (p.Trp501Ser)	ADCY2 (W501S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298935	NM_020546.3(ADCY2):c.136C>T (p.Leu46Phe)	ADCY2 (L46F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288255	NM_020546.3(ADCY2):c.3059T>C (p.Ile1020Thr)	ADCY2 (I1020T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283526	NM_020546.3(ADCY2):c.3265G>A (p.Val1089Met)	ADCY2 (V1089M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245099	NM_020546.3(ADCY2):c.2299A>T (p.Met767Leu)	ADCY2 (M767L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239332	NM_020546.3(ADCY2):c.122G>C (p.Ser41Thr)	ADCY2 (S41T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229761	NM_020546.3(ADCY2):c.2077A>C (p.Met693Leu)	ADCY2 (M693L)	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 1808602	GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not provided	GPathogenic
Select item 1808109	GRCh37/hg19 5p15.31(chr5:7073154-7643024)x3	ADCY2	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 1710455	NM_020546.3(ADCY2):c.1025A>G (p.Tyr342Cys)	ADCY2 (Y342C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1340533	GRCh37/hg19 5p15.33-15.1(chr5:113577-16952167)x1	ADAMTS16, ADCY2 +60 more	Copy number loss	not provided	GPathogenic
Select item 1302453	NM_020546.3(ADCY2):c.2661C>T (p.Cys887=)	ADCY2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1281229	NM_020546.3(ADCY2):c.2094+16C>T	ADCY2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235804	NM_020546.3(ADCY2):c.2094+6T>C	ADCY2	Single nucleotide variant (intron variant)	not provided	GBenign
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 979667	GRCh37/hg19 5p15.31(chr5:7619352-8166508)x3	ADCY2, FASTKD3 +2 more	Copy number gain	not provided	GLikely benign
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 814662	GRCh37/hg19 5p15.31(chr5:7263294-8372692)x3	FASTKD3, ADCY2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814659	GRCh37/hg19 5p15.33-15.2(chr5:1322680-10762544)x1	CCT5, ADAMTS16 +27 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 782447	NM_020546.3(ADCY2):c.1622+9TC[2]	ADCY2	Microsatellite (intron variant)	not provided	GBenign
Select item 719095	NM_020546.3(ADCY2):c.2784C>G (p.Ser928=)	ADCY2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686770	GRCh37/hg19 5p15.31(chr5:7600515-7724305)x3	ADCY2	Copy number gain	not provided	GUncertain significance
Select item 686093	GRCh37/hg19 5p15.31(chr5:7607935-9584194)x3	ADCY2, CFAP90 +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 563033	GRCh37/hg19 5p15.31(chr5:7603829-7752241)x1	ADCY2	Copy number loss	not provided	GUncertain significance
Select item 563032	GRCh37/hg19 5p15.32-15.2(chr5:5884444-14122539)x3	ATPSCKMT, ADCY2 +19 more	Copy number gain	not provided	GPathogenic
Select item 563031	GRCh37/hg19 5p15.32-14.3(chr5:5830053-19490899)x1	RETREG1, ANKRD33B +31 more	Copy number loss	not provided	GPathogenic
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 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 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 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 395342	GRCh37/hg19 5p15.33-15.2(chr5:22149-9958240)x1	ADAMTS16, ADCY2 +40 more	Copy number loss	See cases	GPathogenic
Select item 394369	GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1	ADAMTS12, ADAMTS16 +82 more	Copy number loss	See cases	GPathogenic

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