ClinVar for Gene (Select 23191) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359215	Single allele	CYFIP1, LOC112272575 +18 more	Deletion	Chromosome 15q11.2 deletion syndrome	GPathogenic
Select item 3338424	Single allele	CYFIP1, LOC112272575 +18 more	Deletion	Chromosome 15q11.2 deletion syndrome	GUncertain significance
Select item 3270477	NM_014608.6(CYFIP1):c.769C>T (p.Pro257Ser)	CYFIP1 (P227S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270476	NM_014608.6(CYFIP1):c.2127G>C (p.Gln709His)	CYFIP1 (Q149H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270475	NM_014608.6(CYFIP1):c.508G>C (p.Val170Leu)	CYFIP1 (V170L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270474	NM_014608.6(CYFIP1):c.2183G>A (p.Arg728Gln)	CYFIP1 (R168Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270473	NM_014608.6(CYFIP1):c.1003A>G (p.Thr335Ala)	CYFIP1 (T213A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270472	NM_014608.6(CYFIP1):c.3712C>G (p.His1238Asp)	CYFIP1 (H1272D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270471	NM_014608.6(CYFIP1):c.2782G>A (p.Val928Met)	CYFIP1 (V368M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270470	NM_014608.6(CYFIP1):c.1514A>C (p.Asn505Thr)	CYFIP1 (N505T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3250355	NC_000015.10:g.(?_22786657)_(28299516_?)dup	SNORD115-26, SNORD115-27 +162 more	Duplication	15q11q13 microduplication syndrome	GLikely pathogenic
Select item 3243903	NC_000015.9:g.(?_22833525)_(23086411_?)del	CYFIP1, NIPA1 +2 more	Deletion	not provided	GLikely benign
Select item 3243870	NC_000015.9:g.(?_22748211)_(23283310_?)del	CYFIP1, NIPA1 +2 more	Deletion	not provided	GLikely benign
Select item 3242319	GRCh37/hg19 15q11.2(chr15:22696624-23301066)x1	CYFIP1, GOLGA6L1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 3242292	GRCh37/hg19 15q11.2(chr15:22749885-23281802)x1	CYFIP1, NIPA1 +2 more	Copy number loss	not provided	GPathogenic
Select item 3235943	GRCh38/hg38 15q11.2(chr15:22600363-23120182)	CYFIP1, GOLGA6L1 +24 more	Copy number loss	Chromosome 15q11.2 deletion syndrome	GPathogenic
Select item 3235914	GRCh38/hg38 15q11.2(chr15:22583760-23123885)	CYFIP1, LOC112272575 +18 more	Copy number loss	Chromosome 15q11.2 deletion syndrome	GPathogenic
Select item 3235904	GRCh38/hg38 15q11.2(chr15:22776147-23076393)	CYFIP1, LOC112272575 +16 more	Copy number loss	15q11.2 BP1-BP2 recurrent deletion	GPathogenic
Select item 3148890	GRCh37/hg19 15q11.2-13.1(chr15:22770422-28962791)x1	ATP10A, CYFIP1 +27 more	Copy number loss	not provided	GPathogenic
Select item 3148887	GRCh37/hg19 15q11.2(chr15:22770422-23277436)x1	CYFIP1, NIPA1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 3148851	GRCh37/hg19 15q11.2(chr15:22770422-24249075)x1	CYFIP1, GOLGA6L2 +6 more	Copy number loss	not provided	GPathogenic
Select item 3079324	NM_014608.6(CYFIP1):c.845A>G (p.Tyr282Cys)	CYFIP1 (Y248C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079323	NM_014608.6(CYFIP1):c.457G>A (p.Val153Met)	CYFIP1 (V119M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079322	NM_014608.6(CYFIP1):c.404G>A (p.Arg135His)	CYFIP1 (R101H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079321	NM_014608.6(CYFIP1):c.3670A>G (p.Lys1224Glu)	CYFIP1 (K793E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079320	NM_014608.6(CYFIP1):c.3400A>T (p.Met1134Leu)	CYFIP1, LOC112272575 (M1100L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079319	NM_014608.6(CYFIP1):c.3370T>C (p.Cys1124Arg)	CYFIP1, LOC112272575 (C564R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079318	NM_014608.6(CYFIP1):c.3367G>A (p.Glu1123Lys)	CYFIP1, LOC112272575 (E1001K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079317	NM_014608.6(CYFIP1):c.3355A>G (p.Met1119Val)	CYFIP1, LOC112272575 (M1153V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079316	NM_014608.6(CYFIP1):c.3007G>A (p.Ala1003Thr)	CYFIP1 (A1003T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079314	NM_014608.6(CYFIP1):c.2772G>C (p.Gln924His)	CYFIP1 (Q890H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079313	NM_014608.6(CYFIP1):c.2579C>G (p.Ser860Cys)	CYFIP1 (S826C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079312	NM_014608.6(CYFIP1):c.2443T>G (p.Tyr815Asp)	CYFIP1 (Y815D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079311	NM_014608.6(CYFIP1):c.2417G>A (p.Arg806His)	CYFIP1 (R246H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079310	NM_014608.6(CYFIP1):c.2164C>T (p.Leu722Phe)	CYFIP1 (L600F +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079309	NM_014608.6(CYFIP1):c.1856C>T (p.Ser619Leu)	CYFIP1 (S59L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079308	NM_014608.6(CYFIP1):c.1226T>C (p.Met409Thr)	CYFIP1 (M287T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079306	NM_014608.6(CYFIP1):c.1050C>G (p.Ile350Met)	CYFIP1 (I228M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063369	GRCh37/hg19 15q11.2(chr15:22770421-23281364)x1	CYFIP1, NIPA1 +2 more	Copy number loss	not specified	GPathogenic
Select item 3063356	GRCh37/hg19 15q11.2(chr15:22770421-23290863)x1	CYFIP1, NIPA1 +2 more	Copy number loss	not specified	GPathogenic
Select item 3063354	GRCh37/hg19 15q11.2(chr15:22770421-23277435)x1	CYFIP1, NIPA1 +2 more	Copy number loss	not specified	GPathogenic
Select item 3063353	GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1	CYFIP1, NIPA1 +2 more	Copy number loss	not specified	GPathogenic
Select item 3063351	GRCh37/hg19 15q11.2(chr15:22770421-23283811)x1	CYFIP1, NIPA1 +2 more	Copy number loss	not specified	GPathogenic
Select item 3063350	GRCh37/hg19 15q11.2(chr15:22770421-23291159)x1	CYFIP1, NIPA1 +2 more	Copy number loss	not specified	GPathogenic
Select item 3063348	GRCh37/hg19 15q11.2-13.3(chr15:22770421-32446830)x3	APBA2, ARHGAP11B +42 more	Copy number gain	not specified	GPathogenic
Select item 3062005	GRCh38/hg38 15q11.2-13.1(chr15:22612582-28435882)x4	GABRA5, GOLGA6L26 +170 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3062004	GRCh38/hg38 15q11.2-13.1(chr15:22612582-29993699)	APBA2, ATP10A +189 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3062003	GRCh38/hg38 15q11.2-13.3(chr15:22612582-32116118)	APBA2, ARHGAP11B +227 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3047926	NM_014608.6(CYFIP1):c.3210+6G>A	CYFIP1	Single nucleotide variant (intron variant)	CYFIP1-related disorder	GLikely benign
Select item 3045989	NM_014608.6(CYFIP1):c.1675-209C>T	CYFIP1 (A58V)	Single nucleotide variant (missense variant +1 more)	CYFIP1-related disorder	GLikely benign
Select item 3024588	GRCh37/hg19 15q11.2(chr15:22835916-23411062)x1	CYFIP1, NIPA1 +2 more	Copy number loss	not provided	GPathogenic
Select item 3024587	GRCh37/hg19 15q11.2(chr15:22833525-23265045)x1	CYFIP1, NIPA1 +2 more	Copy number loss	not provided	GPathogenic
Select item 3024586	GRCh37/hg19 15q11.2(chr15:22757538-23412276)x1	CYFIP1, NIPA1 +2 more	Copy number loss	not provided	GPathogenic
Select item 3024585	GRCh37/hg19 15q11.2(chr15:22757538-23411062)x1	CYFIP1, NIPA1 +2 more	Copy number loss	not provided	GPathogenic
Select item 3024383	GRCh38/hg38 15q11.2(chr15:22633497-23084434)	CYFIP1, LOC112272575 +18 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 2685502	GRCh37/hg19 15q11.2(chr15:22770422-23679133)x1	CYFIP1, NIPA1 +2 more	Copy number loss	not provided	GPathogenic
Select item 2684750	GRCh37/hg19 15q11.2-13.1(chr15:22770422-29013164)x3	ATP10A, CYFIP1 +27 more	Copy number gain	not provided	GPathogenic
Select item 2684749	GRCh37/hg19 15q11.2-13.3(chr15:22770422-32915593)x3	APBA2, ARHGAP11A +45 more	Copy number gain	not provided	GPathogenic
Select item 2684748	GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3	ACTC1, APBA2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2671614	Single allele	CYFIP1, NIPA1 +2 more	Deletion	not provided	GPathogenic
Select item 2671594	Single allele	APBA2, ARHGAP11B +42 more	Duplication	not provided	GPathogenic
Select item 2663903	GRCh38/hg38 15q11.2(chr15:22542702-23121344)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	Microcephaly-digital anomalies-intellectual disability syndrome	GPathogenic
Select item 2645761	GRCh37/hg19 15q11.2(chr15:22833525-23265556)x3	CYFIP1, NIPA1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2644949	NM_014608.6(CYFIP1):c.3057G>A (p.Val1019=)	CYFIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644948	NM_014608.6(CYFIP1):c.1675-307G>A	CYFIP1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2644947	NM_014608.6(CYFIP1):c.1424C>G (p.Ala475Gly)	CYFIP1 (A353G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2644946	NM_014608.6(CYFIP1):c.1287C>G (p.Pro429=)	CYFIP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2644945	NM_014608.6(CYFIP1):c.975C>T (p.Tyr325=)	CYFIP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2644944	NM_014608.6(CYFIP1):c.910G>A (p.Val304Met)	CYFIP1 (V182M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2644943	NM_001324120.2(CYFIP1):c.-238G>A	CYFIP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2630737	NM_014608.6(CYFIP1):c.3220A>G (p.Ile1074Val)	LOC112272575, CYFIP1 (I1040V +6 more)	Single nucleotide variant (missense variant)	CYFIP1-related disorder	GUncertain significance
Select item 2619287	NM_014608.6(CYFIP1):c.2210C>T (p.Thr737Met)	CYFIP1 (T177M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613530	NM_014608.6(CYFIP1):c.1126G>A (p.Gly376Ser)	CYFIP1 (G254S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604310	NM_014608.6(CYFIP1):c.3302G>T (p.Arg1101Leu)	CYFIP1, LOC112272575 (R1071L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601627	NM_014608.6(CYFIP1):c.3697G>A (p.Gly1233Ser)	CYFIP1 (G1233S +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2590827	NM_014608.6(CYFIP1):c.3167C>T (p.Pro1056Leu)	CYFIP1 (P625L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580327	GRCh37/hg19 15q11.2(chr15:22744149-23246340)x1	CYFIP1, GOLGA6L1 +3 more	Copy number loss	Chromosome 15q11.2 deletion syndrome	GPathogenic
Select item 2579285	GRCh38/hg38 15q11.2-12(chr15:20966971-25963714)x1	ATP10A, ATP10A-DT +163 more	Copy number loss	Angelman syndrome	GPathogenic
Select item 2578749	GRCh37/hg19 15q11.2-13.1(chr15:22742396-28567325)x4	PWAR4, PWAR5 +27 more	Copy number gain	not provided	GPathogenic
Select item 2574691	GRCh37/hg19 15q11.2(chr15:22770421-23195725)	CYFIP1, NIPA1 +2 more	Copy number loss	Chromosome 15q11.2 deletion syndrome	GPathogenic
Select item 2574688	GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)	APBA2, ATP10A +32 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 2574676	GRCh37/hg19 15q11.2(chr15:22770421-23282799)	CYFIP1, NIPA1 +2 more	Copy number loss	Chromosome 15q11.2 deletion syndrome	GPathogenic
Select item 2571636	NM_014608.6(CYFIP1):c.1348G>T (p.Ala450Ser)	CYFIP1 (A328S +4 more)	Single nucleotide variant (missense variant +1 more)	Autism +5 more	GUncertain significance
Select item 2571631	NM_014608.6(CYFIP1):c.1798T>C (p.Phe600Leu)	CYFIP1 (F169L +6 more)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 2570916	GRCh37/hg19 15q11.2(chr15:22835916-23264190)x3	CYFIP1, NIPA1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2570915	GRCh37/hg19 15q11.2(chr15:22833525-23412276)x1	CYFIP1, NIPA1 +2 more	Copy number loss	not provided	GPathogenic
Select item 2570914	GRCh37/hg19 15q11.2(chr15:22833499-23577516)x1	CYFIP1, NIPA1 +2 more	Copy number loss	not provided	GPathogenic
Select item 2570913	GRCh37/hg19 15q11.2(chr15:22739723-23259294)x3	CYFIP1, GOLGA6L1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2556683	NM_014608.6(CYFIP1):c.1438G>A (p.Val480Ile)	CYFIP1 (V514I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552272	NM_014608.6(CYFIP1):c.3074C>T (p.Ala1025Val)	CYFIP1 (A1025V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540356	NM_014608.6(CYFIP1):c.1613A>G (p.Asp538Gly)	CYFIP1 (D416G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535085	NM_014608.6(CYFIP1):c.2176C>T (p.Arg726Trp)	CYFIP1 (R295W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532162	NM_014608.6(CYFIP1):c.2743C>G (p.Gln915Glu)	CYFIP1 (Q355E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521576	NM_014608.6(CYFIP1):c.1573C>T (p.His525Tyr)	CYFIP1 (H525Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2506528	GRCh37/hg19 15q11.2(chr15:22833525-23412276)	CYFIP1, NIPA1 +2 more	Copy number loss	Chromosome 15q11.2 deletion syndrome	GPathogenic
Select item 2502281	GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1	CYFIP1, NIPA1 +2 more	Copy number loss	Chromosome 15q11.2 deletion syndrome	Gnot provided
Select item 2499632	GRCh38/hg38 15q11.2(chr15:22787849-23051049)	CYFIP1, LOC112272575 +10 more	Copy number loss	Chromosome 15q11.2 deletion syndrome	GUncertain significance
Select item 2499631	GRCh38/hg38 15q11.2(chr15:22787668-23051531)	CYFIP1, LOC112272575 +11 more	Copy number loss	Chromosome 15q11.2 deletion syndrome	GUncertain significance

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