LOC126863087[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 103

<< First< Prev

Page of 2

	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	Seizure	GLikely pathogenic
Select item 3255314	NM_000744.7(CHRNA4):c.383+464G>C	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255299	NM_000744.7(CHRNA4):c.383+378A>G	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1217837	NM_000744.7(CHRNA4):c.383+279G>C	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178815	NM_000744.7(CHRNA4):c.383+198G>A	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 506620	NM_000744.7(CHRNA4):c.383+15_383+32del	CHRNA4, LOC126863087	Microsatellite (splice donor variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GBenign/Likely benign
Select item 1608992	NM_000744.7(CHRNA4):c.383+16C>T	CHRNA4, LOC126863087	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1916534	NM_000744.7(CHRNA4):c.383+14A>G	CHRNA4, LOC126863087	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1660403	NM_000744.7(CHRNA4):c.383+13C>T	CHRNA4, LOC126863087	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 136766	NM_000744.7(CHRNA4):c.383+7C>T	CHRNA4, LOC126863087	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 2825891	NM_000744.7(CHRNA4):c.383+3G>A	CHRNA4, LOC126863087	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1387220	NM_000744.7(CHRNA4):c.382_383+1dup	CHRNA4, LOC126863087	Duplication (5 prime UTR variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 804690	NM_000744.7(CHRNA4):c.383+1G>A	CHRNA4, LOC126863087	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 1959326	NM_000744.7(CHRNA4):c.378CAA[1] (p.Asn128del)	CHRNA4, LOC126863087 (N128del)	Microsatellite (inframe_deletion +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2749398	NM_000744.7(CHRNA4):c.380A>G (p.Asn127Ser)	CHRNA4, LOC126863087 (N127S)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 582135	NM_000744.7(CHRNA4):c.373C>T (p.Leu125Phe)	CHRNA4, LOC126863087 (L125F)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 543551	NM_000744.7(CHRNA4):c.372C>T (p.Val124=)	CHRNA4, LOC126863087	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 793258	NM_000744.7(CHRNA4):c.369C>T (p.Ile123=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1063842	NM_000744.7(CHRNA4):c.367A>G (p.Ile123Val)	CHRNA4, LOC126863087 (I123V)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 2190204	NM_000744.7(CHRNA4):c.366C>T (p.Asp122=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1091706	NM_000744.7(CHRNA4):c.363G>C (p.Pro121=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 954127	NM_000744.7(CHRNA4):c.363G>A (p.Pro121=)	CHRNA4, LOC126863087	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 581212	NM_000744.7(CHRNA4):c.362C>T (p.Pro121Leu)	CHRNA4, LOC126863087 (P121L)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GUncertain significance
Select item 1621487	NM_000744.7(CHRNA4):c.358C>A (p.Arg120=)	LOC126863087, CHRNA4	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 205046	NM_000744.7(CHRNA4):c.358C>T (p.Arg120Trp)	CHRNA4, LOC126863087 (R120W)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +3 more	GConflicting classifications of pathogenicity
Select item 1475080	NM_000744.7(CHRNA4):c.348G>C (p.Glu116Asp)	LOC126863087, CHRNA4 (E116D)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1021047	NM_000744.7(CHRNA4):c.345C>A (p.Ser115=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 477010	NM_000744.7(CHRNA4):c.345C>T (p.Ser115=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GLikely benign
Select item 2904335	NM_000744.7(CHRNA4):c.341C>T (p.Pro114Leu)	CHRNA4, LOC126863087 (P114L)	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2752874	NM_000744.7(CHRNA4):c.335G>A (p.Arg112His)	CHRNA4, LOC126863087 (R112H)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1025892	NM_000744.7(CHRNA4):c.334C>T (p.Arg112Cys)	CHRNA4, LOC126863087 (R112C)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 718112	NM_000744.7(CHRNA4):c.327C>T (p.Thr109=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 804689	NM_000744.7(CHRNA4):c.326C>T (p.Thr109Ile)	CHRNA4, LOC126863087 (T109I)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 1803400	NM_000744.7(CHRNA4):c.325A>G (p.Thr109Ala)	CHRNA4, LOC126863087 (T109A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2742584	NM_000744.7(CHRNA4):c.315T>C (p.Tyr105=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 937064	NM_000744.7(CHRNA4):c.311A>C (p.Asp104Ala)	CHRNA4, LOC126863087 (D104A)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 1025372	NM_000744.7(CHRNA4):c.305C>T (p.Pro102Leu)	CHRNA4, LOC126863087 (P102L)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 641471	NM_000744.7(CHRNA4):c.301G>A (p.Asp101Asn)	CHRNA4, LOC126863087 (D101N)	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 205045	NM_000744.7(CHRNA4):c.296G>A (p.Arg99His)	CHRNA4, LOC126863087 (R99H)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 2797103	NM_000744.7(CHRNA4):c.295C>T (p.Arg99Cys)	LOC126863087, CHRNA4 (R99C)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 205044	NM_000744.7(CHRNA4):c.283G>A (p.Asp95Asn)	CHRNA4, LOC126863087 (D95N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1151069	NM_000744.7(CHRNA4):c.282C>T (p.His94=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	CHRNA4-related disorder +1 more	GLikely benign
Select item 205043	NM_000744.7(CHRNA4):c.274G>C (p.Glu92Gln)	CHRNA4, LOC126863087 (E92Q)	Single nucleotide variant (missense variant +2 more)	CHRNA4-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 963252	NM_000744.7(CHRNA4):c.274-1G>A	CHRNA4, LOC126863087	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 2752438	NM_000744.7(CHRNA4):c.274-3C>T	CHRNA4, LOC126863087	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1089365	NM_000744.7(CHRNA4):c.274-9C>T	CHRNA4, LOC126863087	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 393060	NM_000744.7(CHRNA4):c.274-13C>G	CHRNA4, LOC126863087	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1531783	NM_000744.7(CHRNA4):c.274-14C>T	CHRNA4, LOC126863087	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1907569	NM_000744.7(CHRNA4):c.274-16G>A	CHRNA4, LOC126863087	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2197274	NM_000744.7(CHRNA4):c.274-17C>T	CHRNA4, LOC126863087	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1611872	NM_000744.7(CHRNA4):c.274-19C>G	CHRNA4, LOC126863087	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2722580	NM_000744.7(CHRNA4):c.274-20C>T	CHRNA4, LOC126863087	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1223973	NM_000744.7(CHRNA4):c.274-40C>T	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237828	NM_000744.7(CHRNA4):c.274-63T>G	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232192	NM_000744.7(CHRNA4):c.274-75A>C	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192834	NM_000744.7(CHRNA4):c.274-136C>T	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206616	NM_000744.7(CHRNA4):c.273+49C>T	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1589170	NM_000744.7(CHRNA4):c.273+14C>A	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1571895	NM_000744.7(CHRNA4):c.273+13G>A	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2857877	NM_000744.7(CHRNA4):c.273+9G>A	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GLikely benign
Select item 388461	NM_000744.7(CHRNA4):c.273+7G>A	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GLikely benign
Select item 1604703	NM_000744.7(CHRNA4):c.270G>A (p.Lys90=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1514420	NM_000744.7(CHRNA4):c.264G>A (p.Trp88Ter)	CHRNA4, LOC126863087 (W88*)	Single nucleotide variant (nonsense +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1125350	NM_000744.7(CHRNA4):c.261A>C (p.Val87=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1793622	NM_000744.7(CHRNA4):c.259G>T (p.Val87Leu)	CHRNA4, LOC126863087 (V87L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1202916	NM_000744.7(CHRNA4):c.258C>A (p.Asn86Lys)	CHRNA4, LOC126863087 (N86K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 377670	NM_000744.7(CHRNA4):c.258C>T (p.Asn86=)	LOC126863087, CHRNA4	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 392155	NM_000744.7(CHRNA4):c.255G>A (p.Thr85=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GLikely benign
Select item 377110	NM_000744.7(CHRNA4):c.254C>T (p.Thr85Met)	CHRNA4, LOC126863087 (T85M)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 2813772	NM_000744.7(CHRNA4):c.252C>T (p.Thr84=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 984910	NM_000744.7(CHRNA4):c.245T>C (p.Met82Thr)	CHRNA4, LOC126863087 (M82T)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy 1	GUncertain significance
Select item 2632953	NM_000744.7(CHRNA4):c.240C>A (p.Asn80Lys)	CHRNA4, LOC126863087 (N80K)	Single nucleotide variant (missense variant +2 more)	CHRNA4-related disorder	GUncertain significance
Select item 1087585	NM_000744.7(CHRNA4):c.237G>A (p.Lys79=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 570989	NM_000744.7(CHRNA4):c.229G>A (p.Asp77Asn)	CHRNA4, LOC126863087 (D77N)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1627504	NM_000744.7(CHRNA4):c.229-5C>T	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 593527	NM_000744.7(CHRNA4):c.229-10G>T	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 582974	NM_000744.7(CHRNA4):c.229-10G>A	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 386652	NM_000744.7(CHRNA4):c.229-11C>T	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GLikely benign
Select item 1583613	NM_000744.7(CHRNA4):c.229-17C>T	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign

<< First< Prev

Page of 2