NDC80[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 148011	GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1	ADCYAP1, AKAIN1 +245 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 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 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 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 154072	GRCh38/hg38 18p11.32-11.21(chr18:958974-11954935)x1	AKAIN1, ANKRD12 +246 more	Copy number loss	See cases	GPathogenic
Select item 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 147396	GRCh38/hg38 18p11.32-11.21(chr18:2425507-11904118)x3	AKAIN1, ANKRD12 +230 more	Copy number gain	See cases	GPathogenic
Select item 59917	GRCh38/hg38 18p11.32-11.31(chr18:2547398-6694867)x1	LOC130062117, LOC130062118 +109 more	Copy number loss	See cases	GPathogenic
Select item 151494	GRCh38/hg38 18p11.32(chr18:2549225-2700108)x3	LOC125338464, LOC126862679 +9 more	Copy number gain	See cases	GLikely benign
Select item 2325337	NM_006101.3(NDC80):c.29G>T (p.Gly10Val)	NDC80 (G10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185708	NM_006101.3(NDC80):c.83G>A (p.Gly28Asp)	NDC80 (G28D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298952	NM_006101.3(NDC80):c.143C>T (p.Pro48Leu)	NDC80 (P48L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268255	NM_006101.3(NDC80):c.164C>T (p.Ser55Leu)	NDC80 (S55L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331428	NM_006101.3(NDC80):c.289C>G (p.Arg97Gly)	NDC80 (R97G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307250	NM_006101.3(NDC80):c.364G>C (p.Val122Leu)	NDC80 (V122L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185687	NM_006101.3(NDC80):c.482C>A (p.Pro161His)	NDC80 (P161H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259336	NM_006101.3(NDC80):c.482C>T (p.Pro161Leu)	NDC80 (P161L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396937	NM_006101.3(NDC80):c.485T>A (p.Phe162Tyr)	NDC80 (F162Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398091	NM_006101.3(NDC80):c.601A>G (p.Ser201Gly)	NDC80 (S201G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185703	NM_006101.3(NDC80):c.625C>A (p.Gln209Lys)	NDC80 (Q209K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773333	NM_006101.3(NDC80):c.684C>T (p.Tyr228=)	NDC80	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3185704	NM_006101.3(NDC80):c.778G>A (p.Val260Met)	LOC126862679, NDC80 (V260M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230930	NM_006101.3(NDC80):c.899A>C (p.Lys300Thr)	LOC126862679, NDC80 (K300T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269696	NM_006101.3(NDC80):c.929A>G (p.Tyr310Cys)	LOC126862679, NDC80 (Y310C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298948	NM_006101.3(NDC80):c.934G>A (p.Ala312Thr)	LOC126862679, NDC80 (A312T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538963	NM_006101.3(NDC80):c.940A>G (p.Met314Val)	LOC126862679, NDC80 (M314V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276742	NM_006101.3(NDC80):c.958C>T (p.His320Tyr)	LOC126862679, NDC80 (H320Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185638	NM_006101.3(NDC80):c.1012G>C (p.Val338Leu)	LOC126862679, NDC80 (V338L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185644	NM_006101.3(NDC80):c.1064T>C (p.Ile355Thr)	NDC80 (I355T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400716	NM_006101.3(NDC80):c.1131G>T (p.Gln377His)	NDC80 (Q377H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185651	NM_006101.3(NDC80):c.1168G>C (p.Glu390Gln)	NDC80 (E390Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771921	NM_006101.3(NDC80):c.1221+9T>A	NDC80	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2399524	NM_006101.3(NDC80):c.1228A>G (p.Thr410Ala)	NDC80 (T410A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2205467	NM_006101.3(NDC80):c.1355A>G (p.Lys452Arg)	NDC80 (K452R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392109	NM_006101.3(NDC80):c.1381C>T (p.Leu461Phe)	NDC80 (L461F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301621	NM_006101.3(NDC80):c.1552A>C (p.Ile518Leu)	NDC80 (I518L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364908	NM_006101.3(NDC80):c.1684C>T (p.Arg562Trp)	NDC80 (R562W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298949	NM_006101.3(NDC80):c.1685G>A (p.Arg562Gln)	NDC80 (R562Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711697	NM_006101.3(NDC80):c.1713G>A (p.Thr571=)	NDC80	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3185674	NM_006101.3(NDC80):c.1838A>G (p.Glu613Gly)	NDC80 (E613G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298951	NM_006101.3(NDC80):c.1859C>G (p.Ser620Trp)	NDC80 (S620W)	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 3063557	GRCh37/hg19 18p11.32-11.31(chr18:544117-5679224)x1	ADCYAP1, AKAIN1 +19 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 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

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