1137[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC130066362, LOC130066363 +355 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 58974	GRCh38/hg38 20q13.33(chr20:62455231-63839491)x1	LOC130066313, LOC130066314 +183 more	Copy number loss	See cases	GPathogenic
Select item 58975	GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1	ABHD16B, ARFGAP1 +249 more	Copy number loss	See cases	GPathogenic
Select item 144360	GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	ABHD16B, ARFGAP1 +248 more	Copy number loss	See cases	GPathogenic
Select item 153305	GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	LOC130066412, LOC130066413 +244 more	Copy number loss	See cases	GPathogenic
Select item 2579288	GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1	ARFGAP1, ARFRP1 +165 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 153207	GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1	ABHD16B, ARFGAP1 +230 more	Copy number loss	See cases	GPathogenic
Select item 1696472	Single allele	ARFGAP1, BHLHE23 +102 more	Duplication	not provided	GUncertain significance
Select item 58977	GRCh38/hg38 20q13.33(chr20:63095686-63524980)x1	ARFGAP1, BIRC7 +37 more	Copy number loss	See cases	GPathogenic
Select item 148310	GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1	RGS19, RTEL1 +181 more	Copy number loss	See cases	GPathogenic
Select item 160985	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3	ABHD16B, ARFGAP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 146197	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1	ABHD16B, ARFGAP1 +177 more	Copy number loss	See cases	GLikely pathogenic
Select item 221549	GRCh38/hg38 20q13.33(chr20:63239482-63415015)x1	ARFGAP1, BIRC7 +15 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 1341868	NC_000020.11:g.63255263_63498365del	ARFGAP1, CHRNA4 +19 more	Deletion	not provided	GLikely pathogenic
Select item 1169560	NM_000744.7(CHRNA4):c.*534C>T	CHRNA4	Single nucleotide variant (3 prime UTR variant +1 more)	Tobacco addiction, susceptibility to +3 more	GBenign
Select item 1233246	NM_000744.7(CHRNA4):c.*301C>T	CHRNA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1197461	NM_000744.7(CHRNA4):c.*256G>A	CHRNA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1269727	NM_000744.7(CHRNA4):c.*255C>T	CHRNA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1222092	NM_000744.7(CHRNA4):c.*252C>T	CHRNA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1298080	NM_000744.7(CHRNA4):c.*218T>G	CHRNA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1262286	NM_000744.7(CHRNA4):c.*217C>G	CHRNA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1234517	NM_000744.7(CHRNA4):c.*144G>C	CHRNA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1291144	NM_000744.7(CHRNA4):c.*114C>T	CHRNA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1283389	NM_000744.7(CHRNA4):c.*19C>T	CHRNA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 377679	NM_000744.7(CHRNA4):c.*5G>C	CHRNA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 238181	NM_000744.7(CHRNA4):c.1867C>T (p.Leu623=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2821930	NM_000744.7(CHRNA4):c.1864T>C (p.Trp622Arg)	CHRNA4 (W446R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 3267168	NM_000744.7(CHRNA4):c.1861C>T (p.Pro621Ser)	CHRNA4 (P445S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 205041	NM_000744.7(CHRNA4):c.1861C>A (p.Pro621Thr)	CHRNA4 (P621T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 416914	NM_000744.7(CHRNA4):c.1860G>A (p.Pro620=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1017487	NM_000744.7(CHRNA4):c.1859C>G (p.Pro620Arg)	CHRNA4 (P444R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 205055	NM_000744.7(CHRNA4):c.1859C>T (p.Pro620Leu)	CHRNA4 (P620L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 1366089	NM_000744.7(CHRNA4):c.1858C>T (p.Pro620Ser)	CHRNA4 (P620S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2854048	NM_000744.7(CHRNA4):c.1855C>T (p.Leu619=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 565952	NM_000744.7(CHRNA4):c.1854C>G (p.Phe618Leu)	CHRNA4 (F618L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2090405	NM_000744.7(CHRNA4):c.1848C>G (p.Gly616=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 205054	NM_000744.7(CHRNA4):c.1847G>T (p.Gly616Val)	CHRNA4 (G616V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 166883	NM_000744.7(CHRNA4):c.1842G>A (p.Thr614=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2571728	NM_000744.7(CHRNA4):c.1841C>T (p.Thr614Met)	CHRNA4 (T438M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1375403	NM_000744.7(CHRNA4):c.1825G>T (p.Val609Phe)	CHRNA4 (V433F +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 205040	NM_000744.7(CHRNA4):c.1825G>A (p.Val609Ile)	CHRNA4 (V609I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely benign
Select item 513051	NM_000744.7(CHRNA4):c.1824C>T (p.Ile608=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 950976	NM_000744.7(CHRNA4):c.1815G>A (p.Met605Ile)	CHRNA4 (M429I +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GLikely benign
Select item 1162861	NM_000744.7(CHRNA4):c.1814T>A (p.Met605Lys)	CHRNA4 (M429K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1528797	NM_000744.7(CHRNA4):c.1803C>T (p.Ile601=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 3050602	NM_000744.7(CHRNA4):c.1801A>G (p.Ile601Val)	CHRNA4 (I425V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1039294	NM_000744.7(CHRNA4):c.1800C>T (p.Arg600=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 939463	NM_000744.7(CHRNA4):c.1799G>A (p.Arg600His)	CHRNA4 (R424H +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 420395	NM_000744.7(CHRNA4):c.1792A>G (p.Ile598Val)	CHRNA4 (I598V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy 1 +2 more	GUncertain significance
Select item 848534	NM_000744.7(CHRNA4):c.1786A>G (p.Met596Val)	CHRNA4 (M596V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2012467	NM_000744.7(CHRNA4):c.1782G>A (p.Val594=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1438426	NM_000744.7(CHRNA4):c.1780G>T (p.Val594Leu)	CHRNA4 (V418L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 205053	NM_000744.7(CHRNA4):c.1780G>A (p.Val594Met)	CHRNA4 (V594M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 699507	NM_000744.7(CHRNA4):c.1779C>T (p.Tyr593=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2809844	NM_000744.7(CHRNA4):c.1777T>G (p.Tyr593Asp)	CHRNA4 (Y593D +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 426597	NM_000744.7(CHRNA4):c.1765G>A (p.Glu589Lys)	CHRNA4 (E589K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3011562	NM_000744.7(CHRNA4):c.1762_1764del (p.Lys588del)	CHRNA4 (K412del +1 more)	Deletion (inframe_deletion +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2297435	NM_000744.7(CHRNA4):c.1759G>C (p.Val587Leu)	CHRNA4 (V411L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1083771	NM_000744.7(CHRNA4):c.1759-4G>A	CHRNA4	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 136764	NM_000744.7(CHRNA4):c.1759-14G>A	CHRNA4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1405659	NM_000744.7(CHRNA4):c.1759-15C>T	CHRNA4	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2144603	NM_000744.7(CHRNA4):c.1759-16G>A	CHRNA4	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2429164	NM_000744.7(CHRNA4):c.1759-17G>C	CHRNA4	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1592819	NM_000744.7(CHRNA4):c.1759-17G>A	CHRNA4	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2057169	NM_000744.7(CHRNA4):c.1759-18C>T	CHRNA4	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2171028	NM_000744.7(CHRNA4):c.1759-19A>C	CHRNA4	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1214679	NM_000744.7(CHRNA4):c.1759-35G>T	CHRNA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668093	NM_000744.7(CHRNA4):c.1759-309A>G	CHRNA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194847	NM_000744.7(CHRNA4):c.1758+238G>A	CHRNA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681356	NM_000744.7(CHRNA4):c.1758+192G>C	CHRNA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677370	NM_000744.7(CHRNA4):c.1758+191C>T	CHRNA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254684	NM_000744.7(CHRNA4):c.1758+29G>A	CHRNA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632466	NM_000744.7(CHRNA4):c.1758+17G>A	CHRNA4	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 136763	NM_000744.7(CHRNA4):c.1758+16G>A	CHRNA4	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 93429	NM_000744.7(CHRNA4):c.1758+14A>G	CHRNA4	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 136762	NM_000744.7(CHRNA4):c.1758+11C>T	CHRNA4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2169666	NM_000744.7(CHRNA4):c.1758+10G>A	CHRNA4	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 381055	NM_000744.7(CHRNA4):c.1758+9C>T	CHRNA4	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GLikely benign
Select item 2727333	NM_000744.7(CHRNA4):c.1758+8C>T	CHRNA4	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2772627	NM_000744.7(CHRNA4):c.1758+1G>T	CHRNA4	Single nucleotide variant (splice donor variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2051410	NM_000744.7(CHRNA4):c.1758G>A (p.Ser586=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 205039	NM_000744.7(CHRNA4):c.1757C>T (p.Ser586Leu)	CHRNA4 (S586L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2029001	NM_000744.7(CHRNA4):c.1752C>T (p.Asp584=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 572064	NM_000744.7(CHRNA4):c.1748_1749del (p.Thr583fs)	CHRNA4 (T583fs +1 more)	Microsatellite (frameshift variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1078120	NM_000744.7(CHRNA4):c.1746C>T (p.Asp582=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1303856	NM_000744.7(CHRNA4):c.1742A>G (p.Glu581Gly)	CHRNA4 (E405G +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 1033118	NM_000744.7(CHRNA4):c.1741G>A (p.Glu581Lys)	CHRNA4 (E405K +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy 1 +2 more	GConflicting classifications of pathogenicity
Select item 2072435	NM_000744.7(CHRNA4):c.1740C>T (p.Ala580=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GBenign
Select item 421633	NM_000744.7(CHRNA4):c.1738G>A (p.Ala580Thr)	CHRNA4 (A580T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 512164	NM_000744.7(CHRNA4):c.1732C>T (p.Leu578=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GLikely benign
Select item 2070186	NM_000744.7(CHRNA4):c.1729C>T (p.His577Tyr)	CHRNA4 (H401Y +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 3042465	NM_000744.7(CHRNA4):c.1728C>T (p.Asp576=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	CHRNA4-related disorder	GLikely benign

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