NCAN[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 2591356	NM_004386.3(NCAN):c.76A>G (p.Thr26Ala)	NCAN (T26A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590846	NM_004386.3(NCAN):c.89C>A (p.Thr30Asn)	NCAN (T30N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294271	NM_004386.3(NCAN):c.91G>A (p.Asp31Asn)	NCAN (D31N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469411	NM_004386.3(NCAN):c.117G>A (p.Met39Ile)	NCAN (M39I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617180	NM_004386.3(NCAN):c.245G>T (p.Arg82Leu)	NCAN (R82L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597650	NM_004386.3(NCAN):c.245G>A (p.Arg82Gln)	NCAN (R82Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211396	NM_004386.3(NCAN):c.251C>T (p.Ala84Val)	NCAN (A84V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352313	NM_004386.3(NCAN):c.263G>A (p.Arg88Gln)	NCAN (R88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529911	NM_004386.3(NCAN):c.322C>A (p.Gln108Lys)	NCAN (Q108K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399159	NM_004386.3(NCAN):c.359G>A (p.Arg120Gln)	NCAN (R120Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781465	NM_004386.3(NCAN):c.372G>A (p.Thr124=)	NCAN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2618011	NM_004386.3(NCAN):c.460C>T (p.Pro154Ser)	NCAN (P154S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406062	NM_004386.3(NCAN):c.460C>G (p.Pro154Ala)	NCAN (P154A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340181	NM_004386.3(NCAN):c.502C>T (p.Arg168Trp)	NCAN (R168W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237049	NM_004386.3(NCAN):c.553A>G (p.Ser185Gly)	NCAN (S185G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285019	NM_004386.3(NCAN):c.635C>T (p.Ser212Phe)	NCAN (S212F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180574	NM_004386.3(NCAN):c.640C>T (p.Arg214Cys)	NCAN (R214C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327736	NM_004386.3(NCAN):c.661A>G (p.Thr221Ala)	NCAN (T221A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395653	NM_004386.3(NCAN):c.776G>T (p.Gly259Val)	NCAN (G259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180587	NM_004386.3(NCAN):c.842G>T (p.Arg281Leu)	LOC130064054, NCAN (R281L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180595	NM_004386.3(NCAN):c.968G>T (p.Arg323Leu)	NCAN (R323L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180352	NM_004386.3(NCAN):c.1009C>T (p.Arg337Cys)	NCAN (R337C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180355	NM_004386.3(NCAN):c.1087T>C (p.Ser363Pro)	NCAN (S363P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2370611	NM_004386.3(NCAN):c.1129G>T (p.Gly377Trp)	NCAN (G377W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595514	NM_004386.3(NCAN):c.1169T>C (p.Leu390Pro)	NCAN (L390P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180367	NM_004386.3(NCAN):c.1202C>T (p.Thr401Ile)	NCAN (T401I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344749	NM_004386.3(NCAN):c.1346G>A (p.Ser449Asn)	NCAN (S449N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296785	NM_004386.3(NCAN):c.1346G>T (p.Ser449Ile)	NCAN (S449I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402721	NM_004386.3(NCAN):c.1385C>A (p.Thr462Asn)	NCAN (T462N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180378	NM_004386.3(NCAN):c.1510A>T (p.Met504Leu)	NCAN (M504L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3180383	NM_004386.3(NCAN):c.1534A>G (p.Thr512Ala)	NCAN (T512A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180388	NM_004386.3(NCAN):c.1613G>A (p.Arg538Gln)	NCAN (R538Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3180394	NM_004386.3(NCAN):c.1650G>A (p.Met550Ile)	NCAN (M550I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276614	NM_004386.3(NCAN):c.1726A>G (p.Ile576Val)	NCAN (I576V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347114	NM_004386.3(NCAN):c.1783G>A (p.Ala595Thr)	NCAN (A595T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180403	NM_004386.3(NCAN):c.1813T>C (p.Ser605Pro)	NCAN (S605P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514145	NM_004386.3(NCAN):c.1988C>A (p.Ala663Asp)	NCAN (A663D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557037	NM_004386.3(NCAN):c.2101C>T (p.Pro701Ser)	NCAN (P701S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468365	NM_004386.3(NCAN):c.2125G>A (p.Gly709Arg)	NCAN (G709R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544565	NM_004386.3(NCAN):c.2131A>G (p.Thr711Ala)	NCAN (T711A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290516	NM_004386.3(NCAN):c.2135G>A (p.Ser712Asn)	NCAN (S712N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180422	NM_004386.3(NCAN):c.2203G>A (p.Ala735Thr)	NCAN (A735T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590833	NM_004386.3(NCAN):c.2255G>T (p.Gly752Val)	NCAN (G752V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180426	NM_004386.3(NCAN):c.2350T>C (p.Ser784Pro)	NCAN (S784P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262633	NM_004386.3(NCAN):c.2374G>C (p.Ala792Pro)	NCAN (A792P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3180433	NM_004386.3(NCAN):c.2426A>G (p.Lys809Arg)	NCAN (K809R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369778	NM_004386.3(NCAN):c.2504C>T (p.Pro835Leu)	NCAN (P835L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2348872	NM_004386.3(NCAN):c.2563G>A (p.Glu855Lys)	NCAN (E855K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180451	NM_004386.3(NCAN):c.2612C>T (p.Thr871Met)	NCAN (T871M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536643	NM_004386.3(NCAN):c.2614C>G (p.Pro872Ala)	NCAN (P872A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460806	NM_004386.3(NCAN):c.2621C>T (p.Thr874Met)	NCAN (T874M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607237	NM_004386.3(NCAN):c.2698G>A (p.Glu900Lys)	NCAN (E900K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180462	NM_004386.3(NCAN):c.2732C>T (p.Ser911Leu)	NCAN (S911L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2358316	NM_004386.3(NCAN):c.2750C>T (p.Pro917Leu)	NCAN (P917L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593228	NM_004386.3(NCAN):c.2840G>A (p.Gly947Glu)	NCAN (G947E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602594	NM_004386.3(NCAN):c.2855C>T (p.Pro952Leu)	NCAN (P952L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324318	NM_004386.3(NCAN):c.2901G>T (p.Glu967Asp)	NCAN (E967D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180476	NM_004386.3(NCAN):c.3011C>T (p.Ala1004Val)	NCAN (A1004V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376806	NM_004386.3(NCAN):c.3038A>G (p.Glu1013Gly)	NCAN (E1013G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590951	NM_004386.3(NCAN):c.3077A>G (p.Asn1026Ser)	NCAN (N1026S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726544	NM_004386.3(NCAN):c.3114C>T (p.Phe1038=)	NCAN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 291298	NM_004386.3(NCAN):c.3115G>A (p.Ala1039Thr)	NCAN (A1039T)	Single nucleotide variant (missense variant)	Developmental dyslexia	GUncertain significance
Select item 2481592	NM_004386.3(NCAN):c.3118G>A (p.Gly1040Arg)	NCAN (G1040R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206229	NM_004386.3(NCAN):c.3134T>C (p.Ile1045Thr)	NCAN (I1045T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180492	NM_004386.3(NCAN):c.3151C>T (p.Leu1051Phe)	NCAN (L1051F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180500	NM_004386.3(NCAN):c.3233G>A (p.Gly1078Asp)	NCAN (G1078D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180505	NM_004386.3(NCAN):c.3268C>T (p.Arg1090Cys)	NCAN (R1090C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359508	NM_004386.3(NCAN):c.3302G>A (p.Arg1101His)	NCAN (R1101H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316682	NM_004386.3(NCAN):c.3337G>A (p.Glu1113Lys)	NCAN (E1113K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285164	NM_004386.3(NCAN):c.3350G>A (p.Arg1117His)	NCAN (R1117H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491386	NM_004386.3(NCAN):c.3355C>T (p.Arg1119Cys)	NCAN (R1119C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243508	NM_004386.3(NCAN):c.3427A>T (p.Thr1143Ser)	NCAN (T1143S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331223	NM_004386.3(NCAN):c.3464A>C (p.Asp1155Ala)	NCAN (D1155A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180526	NM_004386.3(NCAN):c.3487G>A (p.Gly1163Arg)	NCAN (G1163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307677	NM_004386.3(NCAN):c.3499G>C (p.Glu1167Gln)	NCAN (E1167Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287740	NM_004386.3(NCAN):c.3569A>T (p.His1190Leu)	NCAN (H1190L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233084	NM_004386.3(NCAN):c.3576C>A (p.Ser1192Arg)	NCAN (S1192R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545881	NM_004386.3(NCAN):c.3577G>A (p.Gly1193Arg)	NCAN (G1193R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538061	NM_004386.3(NCAN):c.3613C>T (p.Pro1205Ser)	NCAN (P1205S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540423	NM_004386.3(NCAN):c.3658G>A (p.Ala1220Thr)	NCAN (A1220T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282336	NM_004386.3(NCAN):c.3682G>A (p.Gly1228Ser)	NCAN (G1228S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180536	NM_004386.3(NCAN):c.3701A>T (p.Tyr1234Phe)	NCAN (Y1234F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180538	NM_004386.3(NCAN):c.3715A>C (p.Thr1239Pro)	NCAN (T1239P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278853	NM_004386.3(NCAN):c.3755A>T (p.His1252Leu)	NCAN (H1252L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244771	NM_004386.3(NCAN):c.3815C>T (p.Thr1272Ile)	NCAN (T1272I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324745	NM_004386.3(NCAN):c.3818A>G (p.Lys1273Arg)	NCAN (K1273R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622850	NM_004386.3(NCAN):c.3826C>T (p.Arg1276Cys)	NCAN (R1276C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359811	NM_004386.3(NCAN):c.3827G>A (p.Arg1276His)	NCAN (R1276H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775579	NM_004386.3(NCAN):c.3828T>G (p.Arg1276=)	NCAN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2551456	NM_004386.3(NCAN):c.3841C>T (p.Arg1281Trp)	NCAN (R1281W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180555	NM_004386.3(NCAN):c.3949G>A (p.Glu1317Lys)	NCAN (E1317K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	GUncertain significance
Select item 1809253	GRCh37/hg19 19p13.11(chr19:19218464-19494045)x3	BORCS8, HAPLN4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 688890	GRCh37/hg19 19p13.11(chr19:19230490-19440304)x3	BORCS8, HAPLN4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic

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