239[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	LOC130001211, LOC130001212 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC126860518, LOC126860519 +1552 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1152 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130000964, LOC130000965 +1531 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	LOC130001371, LOC130001372 +1329 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001420, LOC130001421 +1204 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001415, LOC130001416 +1067 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC124188223, LOC124188224 +961 more	Copy number gain	See cases	GPathogenic
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	CCN3, CCN4 +558 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 57119	GRCh38/hg38 8q24.21-24.22(chr8:129176782-134170188)x1	ADCY8, ASAP1 +131 more	Copy number loss	See cases	GPathogenic
Select item 144139	GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3	CCN4, CHRAC1 +206 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 2389081	NM_001115.3(ADCY8):c.3682C>T (p.Arg1228Trp)	ADCY8 (R1228W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569025	NM_001115.3(ADCY8):c.3680G>A (p.Arg1227Gln)	ADCY8 (R1227Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713271	NM_001115.3(ADCY8):c.3612T>C (p.Asn1204=)	ADCY8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713272	NM_001115.3(ADCY8):c.3582G>A (p.Ala1194=)	ADCY8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2264032	NM_001115.3(ADCY8):c.3581C>T (p.Ala1194Val)	ADCY8 (A1194V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082353	NM_001115.3(ADCY8):c.3580G>A (p.Ala1194Thr)	ADCY8 (A1194T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342944	NM_001115.3(ADCY8):c.3533C>A (p.Pro1178Gln)	ADCY8 (P1178Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400263	NM_001115.3(ADCY8):c.3532C>G (p.Pro1178Ala)	ADCY8 (P1178A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082349	NM_001115.3(ADCY8):c.3472A>T (p.Ile1158Phe)	ADCY8 (I1158F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516382	NM_001115.3(ADCY8):c.3456G>C (p.Glu1152Asp)	ADCY8 (E1152D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256104	NM_001115.3(ADCY8):c.3449G>A (p.Arg1150Gln)	ADCY8 (R1150Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269723	NM_001115.3(ADCY8):c.3429G>C (p.Gln1143His)	ADCY8 (Q1143H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245600	NM_001115.3(ADCY8):c.3382G>A (p.Gly1128Ser)	ADCY8 (G1128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336864	NM_001115.3(ADCY8):c.3376G>T (p.Val1126Phe)	ADCY8 (V1126F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215758	NM_001115.3(ADCY8):c.3205G>A (p.Ala1069Thr)	ADCY8 (A1069T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082326	NM_001115.3(ADCY8):c.3181T>C (p.Cys1061Arg)	ADCY8 (C1061R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528140	NM_001115.3(ADCY8):c.3160G>A (p.Glu1054Lys)	ADCY8 (E1054K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281534	NM_001115.3(ADCY8):c.3158G>A (p.Cys1053Tyr)	ADCY8 (C1053Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269743	NM_001115.3(ADCY8):c.3064C>T (p.Leu1022Phe)	ADCY8 (L1022F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785263	NM_001115.3(ADCY8):c.2976G>A (p.Ala992=)	ADCY8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 748963	NM_001115.3(ADCY8):c.2949G>A (p.Val983=)	ADCY8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2400635	NM_001115.3(ADCY8):c.2881C>T (p.Arg961Cys)	ADCY8 (R961C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282950	NM_001115.3(ADCY8):c.2435C>T (p.Ser812Leu)	ADCY8 (S812L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269734	NM_001115.3(ADCY8):c.2384T>C (p.Ile795Thr)	ADCY8 (I795T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556870	NM_001115.3(ADCY8):c.2164G>A (p.Val722Ile)	ADCY8 (V722I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394700	NM_001115.3(ADCY8):c.2082G>A (p.Met694Ile)	ADCY8 (M694I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082288	NM_001115.3(ADCY8):c.2078T>C (p.Leu693Pro)	ADCY8 (L693P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613719	NM_001115.3(ADCY8):c.1682G>A (p.Gly561Asp)	ADCY8, LOC126860521 (G561D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082281	NM_001115.3(ADCY8):c.1681G>A (p.Gly561Ser)	ADCY8, LOC126860521 (G561S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387275	NM_001115.3(ADCY8):c.1664C>T (p.Thr555Met)	ADCY8, LOC126860521 (T555M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551221	NM_001115.3(ADCY8):c.1636C>T (p.Pro546Ser)	ADCY8 (P546S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724053	NM_001115.3(ADCY8):c.1551C>T (p.Cys517=)	ADCY8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2220991	NM_001115.3(ADCY8):c.1343G>A (p.Arg448Gln)	ADCY8 (R448Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269693	NM_001115.3(ADCY8):c.1189C>T (p.His397Tyr)	ADCY8 (H397Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309237	NM_001115.3(ADCY8):c.1177G>A (p.Val393Met)	ADCY8 (V393M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269704	NM_001115.3(ADCY8):c.1172C>T (p.Thr391Ile)	ADCY8 (T391I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082268	NM_001115.3(ADCY8):c.1139G>A (p.Arg380Gln)	ADCY8 (R380Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474935	NM_001115.3(ADCY8):c.1132C>T (p.Leu378Phe)	ADCY8 (L378F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082265	NM_001115.3(ADCY8):c.1115G>A (p.Arg372Gln)	ADCY8 (R372Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082263	NM_001115.3(ADCY8):c.1024T>C (p.Ser342Pro)	ADCY8 (S342P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269713	NM_001115.3(ADCY8):c.986T>C (p.Met329Thr)	ADCY8 (M329T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785264	NM_001115.3(ADCY8):c.945C>T (p.Val315=)	ADCY8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2606560	NM_001115.3(ADCY8):c.879C>G (p.Ile293Met)	ADCY8 (I293M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216801	NM_001115.3(ADCY8):c.877A>T (p.Ile293Phe)	ADCY8 (I293F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600342	NM_001115.3(ADCY8):c.869C>T (p.Thr290Ile)	ADCY8 (T290I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390563	NM_001115.3(ADCY8):c.781G>A (p.Gly261Ser)	ADCY8 (G261S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545660	NM_001115.3(ADCY8):c.691G>C (p.Val231Leu)	ADCY8 (V231L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218546	NM_001115.3(ADCY8):c.559G>T (p.Val187Leu)	ADCY8 (V187L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082360	NM_001115.3(ADCY8):c.515G>T (p.Arg172Leu)	ADCY8 (R172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544147	NM_001115.3(ADCY8):c.436G>T (p.Gly146Cys)	ADCY8 (G146C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308695	NM_001115.3(ADCY8):c.346G>T (p.Gly116Cys)	ADCY8 (G116C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082340	NM_001115.3(ADCY8):c.344G>A (p.Ser115Asn)	ADCY8 (S115N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372361	NM_001115.3(ADCY8):c.329C>A (p.Pro110Gln)	ADCY8 (P110Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373419	NM_001115.3(ADCY8):c.296G>A (p.Arg99Gln)	ADCY8 (R99Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403258	NM_001115.3(ADCY8):c.275A>T (p.Tyr92Phe)	ADCY8 (Y92F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603775	NM_001115.3(ADCY8):c.260C>T (p.Ser87Leu)	ADCY8 (S87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537867	NM_001115.3(ADCY8):c.256G>T (p.Asp86Tyr)	ADCY8 (D86Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210648	NM_001115.3(ADCY8):c.215C>A (p.Ala72Glu)	ADCY8 (A72E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082294	NM_001115.3(ADCY8):c.211C>G (p.Pro71Ala)	ADCY8 (P71A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269752	NM_001115.3(ADCY8):c.205T>A (p.Ser69Thr)	ADCY8 (S69T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321472	NM_001115.3(ADCY8):c.194C>G (p.Ser65Trp)	ADCY8 (S65W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305297	NM_001115.3(ADCY8):c.163C>T (p.Arg55Trp)	ADCY8 (R55W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478220	NM_001115.3(ADCY8):c.130C>A (p.His44Asn)	ADCY8 (H44N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592685	NM_001115.3(ADCY8):c.88G>T (p.Ala30Ser)	ADCY8 (A30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269683	NM_001115.3(ADCY8):c.87C>G (p.Ser29Arg)	ADCY8 (S29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549196	NM_001115.3(ADCY8):c.79G>C (p.Gly27Arg)	ADCY8 (G27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592227	NM_001115.3(ADCY8):c.73G>A (p.Gly25Ser)	ADCY8 (G25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262828	NM_001115.3(ADCY8):c.7C>T (p.Leu3Phe)	ADCY8 (L3F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063053	GRCh37/hg19 8q24.11-24.22(chr8:118071721-132774256)x1	ADCY8, ANXA13 +51 more	Copy number loss	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	GSDMC, LY6D +173 more	Copy number gain	not provided	GPathogenic
Select item 2685323	GRCh37/hg19 8q24.22-24.23(chr8:131958531-136738670)x1	ADCY8, CCN4 +13 more	Copy number loss	not provided	GUncertain significance
Select item 2578018	GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913)	SLA, TRAPPC9 +29 more	Copy number gain	Distal trisomy 8q	GPathogenic
Select item 1808708	GRCh37/hg19 8q23.3-24.22(chr8:112234557-133668379)x1	AARD, ADCY8 +63 more	Copy number loss	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic

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