ClinVar for Gene (Select 123606) - ClinVar

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338424	Single allele	CYFIP1, LOC112272575 +18 more	Deletion	Chromosome 15q11.2 deletion syndrome	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 3243776	NC_000015.9:g.(?_23086214)_(23086411_?)del	NIPA1	Deletion	Hereditary spastic paraplegia 6	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 3200138	NM_144599.5(NIPA1):c.86C>T (p.Ser29Leu)	LOC130056709, NIPA1 (S29L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 3043251	NM_144599.5(NIPA1):c.*4G>A	NIPA1	Single nucleotide variant (3 prime UTR variant)	NIPA1-related disorder	GLikely benign
Select item 3029067	NM_144599.5(NIPA1):c.-10C>G	LOC130056709, NIPA1	Single nucleotide variant (5 prime UTR variant +1 more)	NIPA1-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 3013494	NM_144599.5(NIPA1):c.702G>A (p.Leu234=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 2991553	NM_144599.5(NIPA1):c.21_47del (p.Ala8_Ala16del)	LOC130056709, NIPA1	Deletion (inframe_deletion +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2988724	NM_144599.5(NIPA1):c.217A>C (p.Thr73Pro)	NIPA1 (T73P)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2975139	NM_144599.5(NIPA1):c.24G>T (p.Ala8=)	LOC130056709, NIPA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 6	GLikely benign
Select item 2975138	NM_144599.5(NIPA1):c.29_30insAGCGGC (p.Ala16_Gly17insAlaAla)	LOC130056709, NIPA1	Insertion (inframe_insertion +1 more)	Hereditary spastic paraplegia 6	GLikely benign
Select item 2963692	NM_144599.5(NIPA1):c.17C>T (p.Ala6Val)	LOC130056709, NIPA1 (A6V)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2956159	NM_144599.5(NIPA1):c.226A>G (p.Met76Val)	NIPA1 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2914798	NM_144599.5(NIPA1):c.21_35del (p.Ala12_Ala16del)	LOC130056709, NIPA1	Deletion (inframe_deletion +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2914106	NM_144599.5(NIPA1):c.549T>C (p.His183=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 2908801	NM_144599.5(NIPA1):c.801G>A (p.Val267=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 2892930	NM_144599.5(NIPA1):c.179-4A>G	NIPA1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 2889500	NM_144599.5(NIPA1):c.471C>G (p.Thr157=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 2861989	NM_144599.5(NIPA1):c.318-12T>G	NIPA1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 2847326	NM_144599.5(NIPA1):c.907G>C (p.Val303Leu)	NIPA1 (V228L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2843221	NM_144599.5(NIPA1):c.795C>T (p.Tyr265=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 2760707	NM_144599.5(NIPA1):c.32C>T (p.Ala11Val)	LOC130056709, NIPA1 (A11V)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2747053	NM_144599.5(NIPA1):c.606C>T (p.Thr202=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 2745358	NM_144599.5(NIPA1):c.501C>T (p.Ile167=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 2744438	NM_144599.5(NIPA1):c.166G>A (p.Ala56Thr)	LOC130056709, NIPA1 (A56T)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2738213	NM_144599.5(NIPA1):c.573C>T (p.Tyr191=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 2737280	NM_144599.5(NIPA1):c.264G>A (p.Thr88=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 2726045	NM_144599.5(NIPA1):c.204G>A (p.Val68=)	NIPA1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 6	GLikely benign
Select item 2713100	NM_144599.5(NIPA1):c.432G>A (p.Glu144=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6	GLikely benign
Select item 2711857	NM_144599.5(NIPA1):c.14C>T (p.Ala5Val)	LOC130056709, NIPA1 (A5V)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2693831	NM_144599.5(NIPA1):c.139G>A (p.Val47Met)	LOC130056709, NIPA1 (V47M)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
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 2684018	NM_144599.5(NIPA1):c.134C>A (p.Thr45Lys)	LOC130056709, NIPA1 (T45K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2644953	NM_144599.5(NIPA1):c.540G>A (p.Ala180=)	NIPA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644952	NM_144599.5(NIPA1):c.1336_1340del	NIPA1	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 2644951	NM_144599.5(NIPA1):c.3118_3127del	NIPA1	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 2637219	NM_144599.5(NIPA1):c.781G>A (p.Gly261Arg)	NIPA1 (G186R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2612244	NM_144599.5(NIPA1):c.128G>C (p.Gly43Ala)	LOC130056709, NIPA1 (G43A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610826	NM_144599.5(NIPA1):c.68C>G (p.Pro23Arg)	LOC130056709, NIPA1 (P23R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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	NPAP1, OCA2 +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 2541319	NM_144599.5(NIPA1):c.400G>A (p.Val134Ile)	NIPA1 (V134I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2487904	NM_144599.5(NIPA1):c.920T>G (p.Leu307Arg)	NIPA1 (L232R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445212	Single allele	CYFIP1, GOLGA6L2 +11 more	Duplication	See cases	GLikely pathogenic
Select item 2434358	NM_144599.5(NIPA1):c.70A>G (p.Ser24Gly)	LOC130056709, NIPA1 (S24G)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2434357	NM_144599.5(NIPA1):c.21_38del (p.Ala11_Ala16del)	LOC130056709, NIPA1	Deletion (inframe_deletion +1 more)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2426508	NC_000015.9:g.(?_23006221)_(23932364_?)del	GOLGA6L2, MAGEL2 +4 more	Deletion	not provided	GUncertain significance
Select item 2417237	NM_144599.5(NIPA1):c.796G>A (p.Val266Ile)	NIPA1 (V191I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 6	GUncertain significance
Select item 2412250	NM_144599.5(NIPA1):c.712G>A (p.Gly238Ser)	NIPA1 (G238S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311326	NM_144599.5(NIPA1):c.659A>G (p.Asn220Ser)	NIPA1 (N220S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303852	NM_144599.5(NIPA1):c.409A>G (p.Ile137Val)	NIPA1 (I137V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Links from Gene

Items: 100