ClinVar for Gene (Select 10403) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3298951	NM_006101.3(NDC80):c.1859C>G (p.Ser620Trp)	NDC80 (S620W)	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 3298948	NM_006101.3(NDC80):c.934G>A (p.Ala312Thr)	LOC126862679, NDC80 (A312T)	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 3185704	NM_006101.3(NDC80):c.778G>A (p.Val260Met)	LOC126862679, NDC80 (V260M)	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 3185687	NM_006101.3(NDC80):c.482C>A (p.Pro161His)	NDC80 (P161H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3185651	NM_006101.3(NDC80):c.1168G>C (p.Glu390Gln)	NDC80 (E390Q)	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 3185638	NM_006101.3(NDC80):c.1012G>C (p.Val338Leu)	LOC126862679, NDC80 (V338L)	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 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 2538963	NM_006101.3(NDC80):c.940A>G (p.Met314Val)	LOC126862679, NDC80 (M314V)	Single nucleotide variant (missense variant)	not specified	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 2400716	NM_006101.3(NDC80):c.1131G>T (p.Gln377His)	NDC80 (Q377H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2398091	NM_006101.3(NDC80):c.601A>G (p.Ser201Gly)	NDC80 (S201G)	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 2392109	NM_006101.3(NDC80):c.1381C>T (p.Leu461Phe)	NDC80 (L461F)	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 2331428	NM_006101.3(NDC80):c.289C>G (p.Arg97Gly)	NDC80 (R97G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2307250	NM_006101.3(NDC80):c.364G>C (p.Val122Leu)	NDC80 (V122L)	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 2276742	NM_006101.3(NDC80):c.958C>T (p.His320Tyr)	LOC126862679, NDC80 (H320Y)	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 2268255	NM_006101.3(NDC80):c.164C>T (p.Ser55Leu)	NDC80 (S55L)	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 2230930	NM_006101.3(NDC80):c.899A>C (p.Lys300Thr)	LOC126862679, NDC80 (K300T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1808701	GRCh37/hg19 18p11.32-11.31(chr18:2255007-4488934)x1	DLGAP1, DLGAP1-AS2 +9 more	Copy number loss	not provided	GPathogenic
Select item 1808401	GRCh37/hg19 18p11.32(chr18:136227-2626840)x1	ADCYAP1, CETN1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 1807830	GRCh37/hg19 18p11.32-11.23(chr18:136227-7218594)x1	ADCYAP1, AKAIN1 +26 more	Copy number loss	not provided	GPathogenic
Select item 1807753	GRCh37/hg19 18p11.32-11.21(chr18:136227-11283184)x1	ADCYAP1, AKAIN1 +41 more	Copy number loss	not provided	GPathogenic
Select item 1807658	GRCh37/hg19 18p11.32-11.31(chr18:2485817-4086341)x3	DLGAP1, DLGAP1-AS2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1711456	GRCh37/hg19 18p11.32-11.22(chr18:1-8638260)x1	DLGAP1, DLGAP1-AS2 +29 more	Copy number loss	not provided	GPathogenic
Select item 1706501	GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1	METTL4, MPPE1 +64 more	Copy number loss	See cases	GPathogenic
Select item 1703623	GRCh37/hg19 18p11.32-11.23(chr18:136226-7131132)	ADCYAP1, AKAIN1 +26 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1703622	GRCh37/hg19 18p11.32-11.22(chr18:136226-10172941)	ADCYAP1, AKAIN1 +38 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1701345	GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3	FAM210A, LAMA1 +65 more	Copy number gain	not provided	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1526594	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 1526593	GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 1526592	GRCh37/hg19 18p11.32-11.21(chr18:136226-14384326)	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 1526591	GRCh37/hg19 18p11.32-11.21(chr18:136226-13655146)	TUBB6, TWSG1 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526590	GRCh37/hg19 18p11.32-11.31(chr18:136226-6103499)	ADCYAP1, AKAIN1 +24 more	Copy number loss	not specified	GPathogenic
Select item 1340907	GRCh37/hg19 18p11.32-11.31(chr18:983212-3261236)x1	EMILIN2, LPIN2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1340357	GRCh37/hg19 18p11.32(chr18:136227-2694169)x1	ADCYAP1, CETN1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 1340216	GRCh37/hg19 18p11.32(chr18:2255007-2774827)x3	METTL4, NDC80 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1340066	GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3	ABHD3, ADCYAP1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1330176	GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1328441	GRCh37/hg19 18p11.32-11.31(chr18:64647-4472031)x3	ADCYAP1, CETN1 +19 more	Copy number loss	not provided	GUncertain significance
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1180530	GRCh37/hg19 18p11.32-11.31(chr18:64996-6838315)x1	CETN1, CLUL1 +25 more	Copy number loss	not provided	GPathogenic
Select item 979685	GRCh37/hg19 18p11.32-11.31(chr18:136226-3415478)x1	MYOM1, USP14 +17 more	Copy number loss	not provided	GPathogenic
Select item 979535	GRCh37/hg19 18p11.32(chr18:2275728-2710888)x3	NDC80, METTL4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 979531	GRCh37/hg19 18p11.32(chr18:1239210-2851874)x3	NDC80, SMCHD1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 979529	GRCh37/hg19 18p11.32(chr18:136226-2626840)x1	NDC80, THOC1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 816496	GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)x1	MYL12B, FAM210A +65 more	Copy number loss	See cases	GPathogenic
Select item 815988	GRCh37/hg19 18p11.32-q11.1(chr18:136226-18529578)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not provided	GPathogenic
Select item 815987	GRCh37/hg19 18p11.32-11.21(chr18:136226-15175005)x1	MC2R, ZBTB14 +65 more	Copy number loss	not provided	GPathogenic
Select item 815986	GRCh37/hg19 18p11.32-11.21(chr18:136304-15143714)x1	CEP192, TUBB6 +65 more	Copy number loss	not provided	GPathogenic
Select item 815981	GRCh37/hg19 18p11.32-11.21(chr18:136226-13894429)x1	RAB12, RAB31 +62 more	Copy number loss	not provided	GPathogenic
Select item 815978	GRCh37/hg19 18p11.32-11.21(chr18:971295-11250447)x1	AKAIN1, EPB41L3 +31 more	Copy number loss	not provided	GPathogenic
Select item 815967	GRCh37/hg19 18p11.32-11.31(chr18:544117-5679224)x1	ZBTB14, MYL12A +19 more	Copy number loss	not provided	GPathogenic
Select item 815966	GRCh37/hg19 18p11.32-11.31(chr18:136226-5407839)x1	METTL4, MYL12B +22 more	Copy number loss	not provided	GPathogenic
Select item 815964	GRCh37/hg19 18p11.32-11.31(chr18:136226-3502493)x1	MYOM1, SMCHD1 +18 more	Copy number loss	not provided	GPathogenic
Select item 773333	NM_006101.3(NDC80):c.684C>T (p.Tyr228=)	NDC80	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771921	NM_006101.3(NDC80):c.1221+9T>A	NDC80	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 711697	NM_006101.3(NDC80):c.1713G>A (p.Thr571=)	NDC80	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685812	GRCh37/hg19 18p11.32(chr18:2481916-2639451)x1	METTL4, NDC80	Copy number loss	not provided	GUncertain significance
Select item 564565	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4	NDUFV2, POTEC +65 more	Copy number gain	not provided	GPathogenic
Select item 564564	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198989)x1	DLGAP1, ZNF519 +65 more	Copy number loss	not provided	GPathogenic
Select item 564563	GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4	PSMG2, SMCHD1 +65 more	Copy number gain	not provided	GPathogenic
Select item 564562	GRCh37/hg19 18p11.32-11.21(chr18:958974-15181666)x3	LPIN2, SLC35G4 +55 more	Copy number gain	not provided	GPathogenic
Select item 564559	GRCh37/hg19 18p11.32-11.21(chr18:136226-12767079)x1	DLGAP1-AS2, SMCHD1 +54 more	Copy number loss	not provided	GPathogenic
Select item 564557	GRCh37/hg19 18p11.32-11.22(chr18:136226-10074733)x1	LRRC30, USP14 +38 more	Copy number loss	not provided	GPathogenic
Select item 564555	GRCh37/hg19 18p11.32-11.23(chr18:136226-8057394)x1	TMEM200C, COLEC12 +28 more	Copy number loss	not provided	GPathogenic
Select item 564552	GRCh37/hg19 18p11.32-11.31(chr18:136226-4925310)x1	LPIN2, SMCHD1 +19 more	Copy number loss	not provided	GPathogenic
Select item 564541	GRCh37/hg19 18p11.32(chr18:544906-2702746)x3	ADCYAP1, TYMSOS +8 more	Copy number gain	not provided	GUncertain significance
Select item 560039	Single allele	ADCYAP1, AKAIN1 +27 more	Duplication	not provided	GPathogenic
Select item 523239	GRCh37/hg19 18p11.32-11.31(chr18:1345040-3479168)	MYL12B, SMCHD1 +7 more	Copy number loss	Alopecia +4 more	GUncertain significance
Select item 503584	GRCh37/hg19 18p11.32-11.21(chr18:13034-15375878)x1	GNAL, IMPA2 +65 more	Copy number loss	See cases	GPathogenic
Select item 446344	GRCh37/hg19 18p11.32-11.21(chr18:13034-15026309)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	See cases	GPathogenic
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443983	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	See cases	GPathogenic
Select item 443982	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	See cases	GPathogenic

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