ADCY2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154955	GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1	LOC129993633, LOC129993634 +532 more	Copy number loss	See cases	GPathogenic
Select item 154867	GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1	LOC129993624, LOC129993625 +559 more	Copy number loss	See cases	GPathogenic
Select item 154578	GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1	ADAMTS16, ADAMTS16-DT +553 more	Copy number loss	See cases	GPathogenic
Select item 152692	GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1	LOC129993692, LOC129993693 +561 more	Copy number loss	See cases	GPathogenic
Select item 152423	GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1	ADAMTS16, ADAMTS16-DT +478 more	Copy number loss	See cases	GPathogenic
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 149556	GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1	LOC126807323, LOC126807324 +530 more	Copy number loss	See cases	GPathogenic
Select item 149057	GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1	ADAMTS16, ADAMTS16-DT +537 more	Copy number loss	See cases	GPathogenic
Select item 149039	GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1	LOC132090721, LOC132090722 +556 more	Copy number loss	See cases	GPathogenic
Select item 148850	GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1	ADAMTS16, ADAMTS16-DT +384 more	Copy number loss	See cases	GPathogenic
Select item 148819	GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1	LOC126807286, LOC126807287 +384 more	Copy number loss	See cases	GPathogenic
Select item 148740	GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3	ADAMTS16, ADAMTS16-DT +542 more	Copy number gain	See cases	GPathogenic
Select item 148612	GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3	LOC108254683, LOC110120635 +559 more	Copy number gain	See cases	GPathogenic
Select item 148081	GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1	ADAMTS16, ADAMTS16-DT +561 more	Copy number loss	See cases	GPathogenic
Select item 147970	GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1	ADAMTS16, ADAMTS16-DT +559 more	Copy number loss	See cases	GPathogenic
Select item 147809	GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3	LOC112997550, LOC112997551 +462 more	Copy number gain	See cases	GPathogenic
Select item 147356	GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1	ADAMTS16, ADAMTS16-DT +473 more	Copy number loss	See cases	GPathogenic
Select item 146365	GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1	ADAMTS16, ADAMTS16-DT +606 more	Copy number loss	See cases	GPathogenic
Select item 145514	GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1	LOC126807328, LOC126807329 +559 more	Copy number loss	See cases	GPathogenic
Select item 144314	GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1	ADAMTS16, ADAMTS16-DT +388 more	Copy number loss	See cases	GPathogenic
Select item 144306	GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3	ADAMTS16, ADAMTS16-DT +642 more	Copy number gain	See cases	GPathogenic
Select item 144286	GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1	LOC129993561, LOC129993562 +552 more	Copy number loss	See cases	GPathogenic
Select item 59573	GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1	ADAMTS16, ADAMTS16-DT +318 more	Copy number loss	See cases	GPathogenic
Select item 59556	GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1	LOC129993559, LOC129993560 +384 more	Copy number loss	See cases	GPathogenic
Select item 59555	GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1	ADAMTS16, ADAMTS16-DT +538 more	Copy number loss	See cases	GPathogenic
Select item 59576	GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1	LOC129993643, LOC129993644 +521 more	Copy number loss	See cases	GPathogenic
Select item 161034	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 146618	GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1	ADAMTS16, ADAMTS16-DT +574 more	Copy number loss	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 32815	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 154011	GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1	ADAMTS16, ADAMTS16-DT +443 more	Copy number loss	See cases	GPathogenic
Select item 153600	GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1	ADAMTS16, ADAMTS16-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	See cases	GPathogenic
Select item 147751	GRCh38/hg38 5p15.33-15.31(chr5:1544285-8681441)x3	ADAMTS16, ADAMTS16-DT +161 more	Copy number gain	See cases	GPathogenic
Select item 59603	GRCh38/hg38 5p15.33-15.1(chr5:2180761-17602433)x1	LOC129993721, LOC129993722 +334 more	Copy number loss	See cases	GPathogenic
Select item 58069	GRCh38/hg38 5p15.33-15.31(chr5:3075612-7650835)x3	ADAMTS16, ADAMTS16-DT +91 more	Copy number gain	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 153385	GRCh38/hg38 5p15.32-14.3(chr5:4932707-18465361)x1	LOC126807306, LOC126807307 +304 more	Copy number loss	See cases	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 3081353	NM_020546.3(ADCY2):c.115T>C (p.Cys39Arg)	ADCY2 (C39R)	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 2298935	NM_020546.3(ADCY2):c.136C>T (p.Leu46Phe)	ADCY2 (L46F)	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 144887	GRCh38/hg38 5p15.31(chr5:7422048-7449225)x3	ADCY2	Copy number gain	See cases	GBenign
Select item 92006	NM_020546.3(ADCY2):c.489C>G (p.Val163=)	ADCY2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 150605	GRCh38/hg38 5p15.31(chr5:7634264-8158777)x3	ADCY2, CFAP90 +13 more	Copy number gain	See cases	GUncertain significance
Select item 151161	GRCh38/hg38 5p15.31-15.2(chr5:7670933-13623997)x1	ADCY2, ANKRD33B +112 more	Copy number loss	See cases	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 147471	GRCh38/hg38 5p15.31(chr5:7701344-8275266)x3	ADCY2, CFAP90 +12 more	Copy number gain	See cases	GUncertain significance
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 2534026	NM_020546.3(ADCY2):c.1333G>T (p.Asp445Tyr)	ADCY2 (D445Y)	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 3068433	NM_020546.3(ADCY2):c.1489T>A (p.Tyr497Asn)	ADCY2 (Y497N)	Single nucleotide variant (missense variant)	ADCY2-related disorder	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 782447	NM_020546.3(ADCY2):c.1622+9TC[2]	ADCY2	Microsatellite (intron variant)	not provided	GBenign
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 2488822	NM_020546.3(ADCY2):c.1901C>T (p.Ala634Val)	ADCY2 (A634V)	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 3081409	NM_020546.3(ADCY2):c.1988T>C (p.Met663Thr)	ADCY2 (M663T)	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 3234437	NM_020546.3(ADCY2):c.2061A>G (p.Thr687=)	ADCY2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2229761	NM_020546.3(ADCY2):c.2077A>C (p.Met693Leu)	ADCY2 (M693L)	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 2374156	NM_020546.3(ADCY2):c.2081C>G (p.Ala694Gly)	ADCY2 (A694G)	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 2401948	NM_020546.3(ADCY2):c.2087T>C (p.Phe696Ser)	ADCY2 (F696S)	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 2397966	NM_020546.3(ADCY2):c.2090A>G (p.Asn697Ser)	ADCY2 (N697S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1235804	NM_020546.3(ADCY2):c.2094+6T>C	ADCY2	Single nucleotide variant (intron 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 3081458	NM_020546.3(ADCY2):c.2224T>C (p.Tyr742His)	ADCY2 (Y742H)	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 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 1302453	NM_020546.3(ADCY2):c.2661C>T (p.Cys887=)	ADCY2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2673003	NM_020546.3(ADCY2):c.2766C>T (p.Asp922=)	ADCY2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719095	NM_020546.3(ADCY2):c.2784C>G (p.Ser928=)	ADCY2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2347404	NM_020546.3(ADCY2):c.2902A>G (p.Met968Val)	ADCY2 (M968V)	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 3081477	NM_020546.3(ADCY2):c.3103G>A (p.Gly1035Arg)	ADCY2 (G1035R)	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 2283526	NM_020546.3(ADCY2):c.3265G>A (p.Val1089Met)	ADCY2 (V1089M)	Single nucleotide variant (missense variant)	not specified	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 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

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