ClinVar for Gene (Select 81614) - 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 3299780	NM_030922.7(NIPA2):c.804T>G (p.Phe268Leu)	NIPA2 (F249L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299779	NM_030922.7(NIPA2):c.820A>G (p.Met274Val)	NIPA2 (M274V +1 more)	Single nucleotide variant (missense variant)	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 3200144	NM_030922.7(NIPA2):c.841G>C (p.Gly281Arg)	NIPA2 (G262R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200143	NM_030922.7(NIPA2):c.773C>T (p.Thr258Ile)	NIPA2 (T258I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200142	NM_030922.7(NIPA2):c.670A>T (p.Ser224Cys)	NIPA2 (S224C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200141	NM_030922.7(NIPA2):c.640C>T (p.Arg214Trp)	NIPA2 (R195W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200140	NM_030922.7(NIPA2):c.464C>G (p.Ala155Gly)	NIPA2 (A155G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200139	NM_030922.7(NIPA2):c.1009A>T (p.Ser337Cys)	NIPA2 (S337C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3058408	NM_030922.7(NIPA2):c.501C>T (p.Phe167=)	NIPA2	Single nucleotide variant (synonymous variant)	NIPA2-related disorder	GLikely benign
Select item 3055976	NM_030922.7(NIPA2):c.339A>G (p.Lys113=)	NIPA2	Single nucleotide variant (synonymous variant)	NIPA2-related disorder	GLikely benign
Select item 3052855	NM_030922.7(NIPA2):c.834T>C (p.Asp278=)	NIPA2	Single nucleotide variant (synonymous variant)	NIPA2-related disorder	GLikely benign
Select item 3051412	NM_030922.7(NIPA2):c.234G>A (p.Ala78=)	NIPA2	Single nucleotide variant (synonymous variant)	NIPA2-related disorder	GLikely benign
Select item 3050016	NM_030922.7(NIPA2):c.-3G>A	NIPA2	Single nucleotide variant (5 prime UTR variant)	NIPA2-related disorder	GBenign
Select item 3047401	NM_030922.7(NIPA2):c.1017C>T (p.Thr339=)	NIPA2	Single nucleotide variant (synonymous variant)	NIPA2-related disorder	GLikely benign
Select item 3040205	NM_030922.7(NIPA2):c.502G>A (p.Val168Met)	NIPA2 (V149M +1 more)	Single nucleotide variant (missense variant)	NIPA2-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 2644950	NM_030922.7(NIPA2):c.1002_1004dup (p.Asn334_Glu335insAsp)	NIPA2	Duplication (inframe_insertion)	not provided	GBenign
Select item 2617293	NM_030922.7(NIPA2):c.144A>T (p.Gln48His)	NIPA2 (Q48H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612497	NM_030922.7(NIPA2):c.478A>G (p.Ile160Val)	NIPA2 (I141V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600158	NM_030922.7(NIPA2):c.314A>G (p.Asn105Ser)	NIPA2 (N105S +1 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 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 2557640	NM_030922.7(NIPA2):c.52A>G (p.Met18Val)	NIPA2 (M18V)	Single nucleotide variant (missense variant)	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
Select item 2499630	GRCh38/hg38 15q11.2(chr15:22781888-23030923)	CYFIP1, LOC112272575 +14 more	Copy number loss	Chromosome 15q11.2 deletion syndrome	GUncertain significance
Select item 2498628	GRCh37/hg19 15q11.2(chr15:22070540-23262343)x1	CYFIP1, GOLGA6L1 +6 more	Copy number loss	not provided	GPathogenic
Select item 2498204	NC_000015.10:g.22698177_(23120963_23380983)del	GOLGA8S, CYFIP1 +22 more	Deletion	Chromosome 15q11.2 deletion syndrome	GPathogenic
Select item 2489062	NM_030922.7(NIPA2):c.347G>C (p.Cys116Ser)	NIPA2 (C116S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488271	NM_030922.7(NIPA2):c.641G>A (p.Arg214Gln)	NIPA2 (R195Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2445212	Single allele	CYFIP1, GOLGA6L2 +11 more	Duplication	See cases	GLikely pathogenic
Select item 2430301	NM_030922.7(NIPA2):c.726A>G (p.Ile242Met)	NIPA2 (I223M +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2426508	NC_000015.9:g.(?_23006221)_(23932364_?)del	GOLGA6L2, MAGEL2 +4 more	Deletion	not provided	GUncertain significance
Select item 2401308	NM_030922.7(NIPA2):c.865A>G (p.Ile289Val)	NIPA2 (I289V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373134	NM_030922.7(NIPA2):c.233C>T (p.Ala78Val)	NIPA2 (A59V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2330156	NM_030922.7(NIPA2):c.838A>G (p.Ile280Val)	NIPA2 (I280V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302840	NM_030922.7(NIPA2):c.511C>T (p.Pro171Ser)	NIPA2 (P152S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300458	NM_030922.7(NIPA2):c.110G>A (p.Arg37Gln)	NIPA2 (R37Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298229	NM_030922.7(NIPA2):c.623C>T (p.Ala208Val)	NIPA2 (A189V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879314	GRCh37/hg19 15q11.2-13.1(chr15:22833525-28544662)x1	PWAR4, PWARSN +26 more	Copy number loss	not provided	GPathogenic
Select item 1879313	GRCh37/hg19 15q11.2(chr15:22833525-23264190)x1	CYFIP1, NIPA1 +2 more	Copy number loss	not provided	GPathogenic
Select item 1879312	GRCh37/hg19 15q11.2(chr15:22833525-23262343)x1	CYFIP1, NIPA1 +2 more	Copy number loss	not provided	GPathogenic
Select item 1808717	GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545355)x3	ATP10A, CYFIP1 +26 more	Copy number gain	not provided	GPathogenic
Select item 1808627	GRCh37/hg19 15q11.2-13.2(chr15:22770422-30386553)x4	APBA2, ATP10A +32 more	Copy number gain	not provided	GPathogenic
Select item 1808619	GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545601)x4	ATP10A, CYFIP1 +26 more	Copy number gain	not provided	GPathogenic
Select item 1808506	GRCh37/hg19 15q11.2(chr15:22770422-23082328)x1	CYFIP1, NIPA1 +2 more	Copy number loss	not provided	GPathogenic
Select item 1808466	GRCh37/hg19 15q11.2(chr15:22770422-23082442)x1	CYFIP1, NIPA1 +2 more	Copy number loss	not provided	GPathogenic
Select item 1807750	GRCh37/hg19 15q11.2(chr15:22770422-23620154)x1	CYFIP1, NIPA1 +2 more	Copy number loss	not provided	GLikely pathogenic
Select item 1711393	GRCh37/hg19 15q11.2(chr15:22736246-23265381)x1	CYFIP1, GOLGA6L1 +3 more	Copy number loss	not provided	GPathogenic
Select item 1711392	GRCh37/hg19 15q11.2-13.1(chr15:20739497-28566579)x1	ATP10A, CYFIP1 +32 more	Copy number loss	not provided	GPathogenic
Select item 1708267	Single allele	CYFIP1, NIPA1 +2 more	Copy number loss	See cases	GPathogenic
Select item 1708197	GRCh37/hg19 15q11.2(chr15:22770421-23288487)x3	CYFIP1, NIPA1 +2 more	Copy number gain	See cases	GPathogenic
Select item 1708191	GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1	CYFIP1, NIPA1 +2 more	Copy number loss	See cases	GUncertain significance

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