ClinVar for Gene (Select 5216) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 3058545	NM_005022.4(PFN1):c.279C>T (p.Thr93=)	PFN1	Single nucleotide variant (synonymous variant)	PFN1-related condition	GLikely benign
Select item 3047768	NM_005022.4(PFN1):c.*7C>G	PFN1	Single nucleotide variant (3 prime UTR variant)	PFN1-related condition	GLikely benign
Select item 3015416	NM_005022.4(PFN1):c.132+4C>T	PFN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2988070	NM_005022.4(PFN1):c.408G>T (p.Arg136=)	PFN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2971026	NM_005022.4(PFN1):c.43G>A (p.Gly15Arg)	PFN1 (G15R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968522	NM_005022.4(PFN1):c.105C>T (p.Val35=)	PFN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960300	NM_005022.4(PFN1):c.133-9C>T	PFN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958775	NM_005022.4(PFN1):c.326-16T>C	PFN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2907127	NM_005022.4(PFN1):c.132+5T>A	PFN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2905881	NM_005022.4(PFN1):c.38C>T (p.Ala13Val)	PFN1 (A13V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2856724	NM_005022.4(PFN1):c.326-17_326-16del	PFN1	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2851571	NM_005022.4(PFN1):c.326-21_326-18del	PFN1	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2807754	NM_005022.4(PFN1):c.326-13C>A	PFN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2771685	NM_005022.4(PFN1):c.31C>T (p.Leu11Phe)	PFN1 (L11F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2755553	NM_005022.4(PFN1):c.301G>A (p.Val101Ile)	PFN1 (V101I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754942	NM_005022.4(PFN1):c.24C>T (p.Ile8=)	PFN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721147	NM_005022.4(PFN1):c.409C>T (p.Arg137Cys)	PFN1 (R137C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2479737	NM_005022.4(PFN1):c.35T>C (p.Met12Thr)	PFN1 (M12T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446335	NM_005022.4(PFN1):c.185A>G (p.Asn62Ser)	PFN1 (N62S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428478	NM_005022.4(PFN1):c.281G>A (p.Gly94Asp)	PFN1 (G94D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173476	NM_005022.4(PFN1):c.132+12C>A	PFN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2147054	NM_005022.4(PFN1):c.133-8T>G	PFN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2079501	NM_005022.4(PFN1):c.90C>T (p.Ser30=)	PFN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2001342	NM_005022.4(PFN1):c.278C>T (p.Thr93Ile)	PFN1 (T93I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978258	NM_005022.4(PFN1):c.345C>T (p.Gly115=)	PFN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1974670	NM_005022.4(PFN1):c.181G>A (p.Val61Met)	PFN1 (V61M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969380	NM_005022.4(PFN1):c.132+20G>T	PFN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1968947	NM_005022.4(PFN1):c.45G>C (p.Gly15=)	PFN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1939923	NM_005022.4(PFN1):c.196C>T (p.Leu66Phe)	PFN1 (L66F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917232	NM_005022.4(PFN1):c.360C>T (p.His120=)	PFN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1809320	GRCh37/hg19 17p13.2(chr17:4658216-5266343)x3	C17orf107, CAMTA2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1806047	NM_005022.4(PFN1):c.351A>T (p.Glu117Asp)	PFN1 (E117D)	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 18	GLikely benign
Select item 1803758	NM_005022.4(PFN1):c.280G>T (p.Gly94Cys)	PFN1 (G94C)	Single nucleotide variant (missense variant)	PFN1-related condition +2 more	GUncertain significance
Select item 1713431	NM_005022.4(PFN1):c.404T>G (p.Leu135Arg)	PFN1 (L135R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1679759	Single allele	C17orf107, C17orf114 +68 more	Duplication	7p22.1 microduplication syndrome	GUncertain significance
Select item 1676224	NM_005022.4(PFN1):c.318_319dup (p.Asp107fs)	PFN1 (D107fs)	Duplication (frameshift variant)	Neurodegeneration +1 more	GLikely pathogenic
Select item 1631283	NM_005022.4(PFN1):c.326-14TCC[3]	PFN1	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1601275	NM_005022.4(PFN1):c.417G>A (p.Gln139=)	PFN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1578642	NM_005022.4(PFN1):c.326-17C>T	PFN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1571793	NM_005022.4(PFN1):c.222C>T (p.Ile74=)	PFN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1540513	NM_005022.4(PFN1):c.326-15_326-14del	PFN1	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1526561	GRCh37/hg19 17p13.2(chr17:4113551-5023913)	ALOX15, ANKFY1 +31 more	Copy number loss	not specified	GUncertain significance
Select item 1494795	NM_005022.4(PFN1):c.406C>T (p.Arg136Trp)	PFN1 (R136W)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1484659	NM_005022.4(PFN1):c.318dup (p.Asp107Ter)	PFN1 (D107*)	Duplication (nonsense)	not provided	GUncertain significance
Select item 1423188	NM_005022.4(PFN1):c.73_74delinsCT (p.Tyr25Leu)	PFN1 (Y25L)	Indel (missense variant)	not provided	GUncertain significance
Select item 1388494	NM_005022.4(PFN1):c.220A>G (p.Ile74Val)	PFN1 (I74V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1352594	NM_005022.4(PFN1):c.68T>G (p.Val23Gly)	PFN1 (V23G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1343323	NM_005022.4(PFN1):c.86C>T (p.Pro29Leu)	PFN1 (P29L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1307442	NM_005022.4(PFN1):c.401A>C (p.His134Pro)	PFN1 (H134P)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1295414	NM_005022.4(PFN1):c.133-197C>G	PFN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295413	NM_005022.4(PFN1):c.325+149C>T	PFN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1295407	NC_000017.11:g.4948573dup	LOC130060054, PFN1	Duplication	not provided	GBenign
Select item 1281278	NC_000017.11:g.4949010G>A	ENO3, LOC130060055 +1 more	Single nucleotide variant	not provided	GBenign
Select item 1265595	NC_000017.11:g.4949168C>T	ENO3, PFN1	Single nucleotide variant	not provided	GBenign
Select item 1265280	NM_005022.4(PFN1):c.325+296T>A	PFN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1261929	NM_005022.4(PFN1):c.132+133G>C	PFN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234360	NM_005022.4(PFN1):c.-78C>T	LOC130060054, PFN1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1228307	NC_000017.11:g.4948573del	LOC130060054, PFN1	Deletion	not provided	GBenign
Select item 1224167	NM_005022.4(PFN1):c.326-92G>A	PFN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1215785	NM_005022.4(PFN1):c.-86G>A	LOC130060054, PFN1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1211674	NM_005022.4(PFN1):c.133-125A>G	PFN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204909	NM_005022.4(PFN1):c.326-254A>G	PFN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1200806	NC_000017.11:g.4949328G>T	ENO3, LOC130060056 +1 more	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1199737	NM_005022.4(PFN1):c.-58C>G	LOC130060054, PFN1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1197808	NM_005022.4(PFN1):c.326-229C>T	PFN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1179916	NM_005022.4(PFN1):c.-132C>T	LOC130060054, PFN1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1179434	NM_005022.4(PFN1):c.325+288T>C	PFN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1167768	NM_005022.4(PFN1):c.399C>T (p.Ser133=)	PFN1	Single nucleotide variant (3 prime UTR variant +1 more)	PFN1-related condition +1 more	GBenign/Likely benign
Select item 1125173	NM_005022.4(PFN1):c.123C>T (p.Val41=)	PFN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1077627	NM_005022.4(PFN1):c.216G>A (p.Ser72=)	PFN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1046192	NM_005022.4(PFN1):c.133-3C>T	PFN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1024397	NM_005022.4(PFN1):c.369G>C (p.Leu123Phe)	PFN1 (L123F)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 873277	NM_005022.4(PFN1):c.37G>A (p.Ala13Thr)	PFN1 (A13T)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 833374	NC_000017.11:g.(?_4898726)_(4948404_?)del	C17orf107, CHRNE +4 more	Deletion	Congenital myasthenic syndrome 4A	GPathogenic
Select item 831955	NC_000017.11:g.(?_4898726)_(5024161_?)dup	KIF1C, PFN1 +9 more	Duplication	Spastic ataxia 2 +1 more	GUncertain significance
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	CLUH, CRK +115 more	Copy number loss	See cases	GPathogenic
Select item 773959	NM_005022.4(PFN1):c.114A>G (p.Lys38=)	PFN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 772741	NM_005022.4(PFN1):c.327G>A (p.Thr109=)	PFN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 771235	NM_005022.4(PFN1):c.326-7C>T	PFN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 745253	NM_005022.4(PFN1):c.273G>A (p.Lys91=)	PFN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 688934	GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1	ALOX15, ANKFY1 +48 more	Copy number loss	not provided	GUncertain significance
Select item 686942	GRCh37/hg19 17p13.2(chr17:4845435-5097302)x3	CAMTA2, ENO3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 651629	NM_005022.4(PFN1):c.347AAG[1] (p.Glu117del)	PFN1 (E117del)	Microsatellite (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 646360	NM_005022.4(PFN1):c.350_351delinsGT (p.Glu117Gly)	PFN1 (E117G)	Indel (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 642050	NC_000017.10:g.(?_4802011)_(4850135_?)dup	LOC130060045, LOC130060046 +17 more	Duplication	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	RTN4RL1, SCARF1 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564394	GRCh37/hg19 17p13.2(chr17:4633847-4926646)x3	INCA1, SLC25A11 +18 more	Copy number gain	not provided	GUncertain significance
Select item 564393	GRCh37/hg19 17p13.2(chr17:4475016-4884701)x3	ARRB2, MINK1 +20 more	Copy number gain	not provided	GUncertain significance
Select item 564392	GRCh37/hg19 17p13.2(chr17:4036861-5174346)x3	CXCL16, SLC52A1 +36 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic

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