19070[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 545223	NC_000018.10:g.(?_10000)_(1543845_?)del	ADCYAP1, CETN1 +36 more	Deletion	Autism	GLikely pathogenic
Select item 58716	GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3	ADCYAP1, AFG3L2 +379 more	Copy number gain	See cases	GPathogenic
Select item 152926	GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3	ADCYAP1, AFG3L2 +373 more	Copy number gain	See cases	GPathogenic
Select item 153128	GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1	ADCYAP1, AFG3L2 +378 more	Copy number loss	See cases	GPathogenic
Select item 59612	GRCh38/hg38 18p11.32-11.31(chr18:53344-7029134)x1	ADCYAP1, AKAIN1 +161 more	Copy number loss	See cases	GPathogenic
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 152927	GRCh38/hg38 18p11.32-11.31(chr18:85432-7094700)x1	ZBTB14, ADCYAP1 +162 more	Copy number loss	See cases	GPathogenic
Select item 59614	GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 59613	GRCh38/hg38 18p11.32-11.22(chr18:112259-9135777)x1	ADCYAP1, AKAIN1 +195 more	Copy number loss	See cases	GPathogenic
Select item 155127	GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3	LOC129390958, LOC130062070 +300 more	Copy number gain	See cases	GUncertain significance
Select item 152548	GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1	NDUFV2-AS1, PIEZO2 +374 more	Copy number loss	See cases	GPathogenic
Select item 151983	GRCh38/hg38 18p11.32-11.31(chr18:118760-4470508)x1	ADCYAP1, CETN1 +120 more	Copy number loss	See cases	GPathogenic
Select item 150597	GRCh38/hg38 18p11.32-11.31(chr18:118760-6275718)x1	ADCYAP1, AKAIN1 +145 more	Copy number loss	See cases	GPathogenic
Select item 150126	GRCh38/hg38 18p11.32-11.22(chr18:118760-8999132)x1	ADCYAP1, AKAIN1 +184 more	Copy number loss	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148659	GRCh38/hg38 18p11.32-11.31(chr18:118760-4342182)x1	ADCYAP1, CETN1 +118 more	Copy number loss	See cases	GLikely pathogenic
Select item 148383	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1	LOC130062167, LOC130062168 +367 more	Copy number loss	See cases	GPathogenic
Select item 148382	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4	LOC125338465, LOC125338466 +367 more	Copy number gain	See cases	GPathogenic
Select item 146636	GRCh38/hg38 18p11.32-11.31(chr18:131500-4421014)x3	ADCYAP1, CETN1 +119 more	Copy number gain	See cases	GPathogenic
Select item 59910	GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1	ADCYAP1, AKAIN1 +237 more	Copy number loss	See cases	GPathogenic
Select item 59617	GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1	LOC130062104, LOC130062105 +368 more	Copy number loss	See cases	GPathogenic
Select item 59616	GRCh38/hg38 18p11.32-11.31(chr18:131700-3279166)x1	ADCYAP1, CETN1 +83 more	Copy number loss	See cases	GPathogenic
Select item 59615	GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149042	GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 155594	GRCh38/hg38 18p11.32-11.31(chr18:136226-4802275)x1	ADCYAP1, CETN1 +120 more	Copy number loss	See cases	GPathogenic
Select item 155410	GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3	LOC130062144, LOC130062145 +368 more	Copy number gain	See cases	GPathogenic
Select item 155367	GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154071	GRCh38/hg38 18p11.32(chr18:136226-948277)x1	ADCYAP1, CETN1 +26 more	Copy number loss	See cases	GUncertain significance
Select item 153999	GRCh38/hg38 18p11.32-11.31(chr18:136226-4002983)x1	ADCYAP1, CETN1 +114 more	Copy number loss	See cases	GPathogenic
Select item 152369	GRCh38/hg38 18p11.32-11.31(chr18:136226-2994136)x1	EMILIN2, ADCYAP1 +63 more	Copy number loss	See cases	GPathogenic
Select item 151749	GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006)	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160884	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154302	GRCh38/hg38 18p11.32(chr18:148963-1413685)x1	ADCYAP1, CETN1 +31 more	Copy number loss	See cases	GUncertain significance
Select item 148017	GRCh38/hg38 18p11.32(chr18:148963-1949961)x1	ADCYAP1, CETN1 +34 more	Copy number loss	See cases	GPathogenic
Select item 148011	GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1	ADCYAP1, AKAIN1 +245 more	Copy number loss	See cases	GPathogenic
Select item 147461	GRCh38/hg38 18p11.32(chr18:148963-2563898)x1	LOC126862677, LOC126862678 +41 more	Copy number loss	See cases	GUncertain significance
Select item 147395	GRCh38/hg38 18p11.32(chr18:148963-2313458)x1	ADCYAP1, CETN1 +36 more	Copy number loss	See cases	GPathogenic
Select item 146582	GRCh38/hg38 18p11.32-11.31(chr18:148963-6086668)x1	ADCYAP1, AKAIN1 +143 more	Copy number loss	See cases	GPathogenic
Select item 146228	GRCh38/hg38 18p11.32(chr18:148963-533693)x1	COLEC12, LINC01925 +9 more	Copy number loss	See cases	GUncertain significance
Select item 146225	GRCh38/hg38 18p11.32(chr18:148963-2221286)x3	TYMS, TYMSOS +35 more	Copy number gain	See cases	GPathogenic
Select item 146198	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 59916	GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1	ADCYAP1, AFG3L2 +327 more	Copy number loss	See cases	GPathogenic
Select item 59913	GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1	ADCYAP1, AFG3L2 +344 more	Copy number loss	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58728	GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3	SLC35G4, SMCHD1 +375 more	Copy number gain	See cases	GPathogenic
Select item 57340	GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1	LOC129390955, LOC129390956 +358 more	Copy number loss	See cases	GPathogenic
Select item 34384	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154991	GRCh38/hg38 18p11.32-11.31(chr18:149089-5458472)x3	ADCYAP1, AKAIN1 +131 more	Copy number gain	See cases	GPathogenic
Select item 150684	GRCh38/hg38 18p11.32-11.31(chr18:149089-5276567)x1	ADCYAP1, AKAIN1 +127 more	Copy number loss	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 149895	GRCh38/hg38 18p11.32(chr18:149089-1754473)x1	ADCYAP1, CETN1 +32 more	Copy number loss	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 560038	Single allele	COLEC12, LOC130062072 +3 more	Deletion	not provided	GLikely benign
Select item 147704	GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1	ADCYAP1, AKAIN1 +241 more	Copy number loss	See cases	GPathogenic
Select item 58747	GRCh38/hg38 18p11.32-11.31(chr18:180230-4199943)x3	ADCYAP1, CETN1 +113 more	Copy number gain	See cases	GPathogenic
Select item 3177080	NM_005131.3(THOC1):c.1960G>A (p.Glu654Lys)	THOC1 (E654K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292976	NM_005131.3(THOC1):c.1807G>A (p.Glu603Lys)	THOC1 (E603K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325927	NM_005131.3(THOC1):c.1801C>G (p.Gln601Glu)	THOC1 (Q601E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177079	NM_005131.3(THOC1):c.1751A>G (p.Gln584Arg)	THOC1 (Q584R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177077	NM_005131.3(THOC1):c.1690C>T (p.Arg564Trp)	THOC1 (R564W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335658	NM_005131.3(THOC1):c.1574T>C (p.Met525Thr)	THOC1 (M525T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328273	NM_005131.3(THOC1):c.1394A>G (p.Glu465Gly)	THOC1 (E465G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570134	NM_005131.3(THOC1):c.1234A>G (p.Ile412Val)	THOC1 (I412V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3325926	NM_005131.3(THOC1):c.1211C>T (p.Thr404Ile)	THOC1 (T404I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325923	NM_005131.3(THOC1):c.1169C>T (p.Ser390Leu)	THOC1 (S390L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593237	NM_005131.3(THOC1):c.1150A>G (p.Thr384Ala)	THOC1 (T384A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177075	NM_005131.3(THOC1):c.1148A>G (p.Asn383Ser)	THOC1 (N383S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149495	GRCh38/hg38 18p11.32(chr18:225017-287764)x3	LOC130062072, LOC130062073 +1 more	Copy number gain	See cases	GLikely benign
Select item 154659	GRCh38/hg38 18p11.32(chr18:225061-776965)x3	CETN1, CLUL1 +18 more	Copy number gain	See cases	GUncertain significance
Select item 2466836	NM_005131.3(THOC1):c.1010A>G (p.Lys337Arg)	THOC1 (K337R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605189	NM_005131.3(THOC1):c.860A>G (p.Glu287Gly)	THOC1 (E287G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611250	NM_005131.3(THOC1):c.673A>G (p.Thr225Ala)	THOC1 (T225A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443955	NM_005131.3(THOC1):c.547C>G (p.Leu183Val)	THOC1	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 86	GPathogenic
Select item 3177081	NM_005131.3(THOC1):c.372A>C (p.Lys124Asn)	THOC1 (K124N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286614	NM_005131.3(THOC1):c.332C>T (p.Thr111Ile)	THOC1 (T111I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463820	NM_005131.3(THOC1):c.250A>G (p.Thr84Ala)	THOC1 (T84A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177078	NM_005131.3(THOC1):c.174T>G (p.Ile58Met)	THOC1 (I58M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391567	NM_005131.3(THOC1):c.49T>G (p.Phe17Val)	LOC130062072, THOC1 (F17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325925	NM_005131.3(THOC1):c.38C>T (p.Ala13Val)	LOC130062072, THOC1 (A13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325924	NM_005131.3(THOC1):c.31C>T (p.Pro11Ser)	LOC130062072, THOC1 (P11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328390	NM_005131.3(THOC1):c.25A>C (p.Ser9Arg)	LOC130062072, THOC1 (S9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063564	GRCh37/hg19 18p11.32-11.23(chr18:136227-8359829)x1	ADCYAP1, AKAIN1 +28 more	Copy number loss	not specified	GPathogenic
Select item 3063563	GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	ADCYAP1, AFG3L2 +63 more	Copy number loss	not specified	GPathogenic
Select item 3063558	GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063541	GRCh37/hg19 18p11.32-11.22(chr18:136226-10365982)x1	ADCYAP1, AKAIN1 +38 more	Copy number loss	not specified	GPathogenic
Select item 3063540	GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3063537	GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3062373	GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 2685612	GRCh37/hg19 18p11.32-11.22(chr18:136227-8513569)x1	ADCYAP1, AKAIN1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2685611	GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1	ADCYAP1, AFG3L2 +64 more	Copy number loss	not provided	GPathogenic
Select item 2685058	GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4	ADCYAP1, AFG3L2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2684861	GRCh37/hg19 18p11.32(chr18:136227-535230)x3	COLEC12, THOC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2446821	GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1809414	GRCh37/hg19 18p11.32(chr18:220341-556146)x3	COLEC12, THOC1	Copy number gain	not provided	GUncertain significance

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