1909[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 147312	GRCh38/hg38 4q31.21-31.23(chr4:143588844-148514027)x1	ABCE1, ANAPC10 +123 more	Copy number loss	See cases	GPathogenic
Select item 153878	GRCh38/hg38 4q31.21-31.23(chr4:144742003-148490914)x1	ABCE1, ANAPC10 +111 more	Copy number loss	See cases	GLikely pathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 153740	GRCh38/hg38 4q31.22-31.23(chr4:147172571-147792924)x3	ARHGAP10, EDNRA +19 more	Copy number gain	See cases	GUncertain significance
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 146056	GRCh38/hg38 4q31.22-31.23(chr4:147396786-147788662)x3	ARHGAP10, EDNRA +17 more	Copy number gain	See cases	GUncertain significance
Select item 16642	NM_001957.4(EDNRA):c.-230G>A	EDNRA	Single nucleotide variant (5 prime UTR variant +1 more)	Migraine, resistance to	Gprotective
Select item 1237630	NM_001957.4(EDNRA):c.-70-231T>C	EDNRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1166335	NM_001957.4(EDNRA):c.24A>G (p.Ala8=)	EDNRA	Single nucleotide variant (synonymous variant +1 more)	Migraine with or without aura, susceptibility to, 1 +2 more	GBenign/Likely benign
Select item 2817064	NM_001957.4(EDNRA):c.84A>G (p.Thr28=)	EDNRA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2962658	NM_001957.4(EDNRA):c.88C>A (p.Leu30Ile)	EDNRA (L30I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3012016	NM_001957.4(EDNRA):c.98A>G (p.His33Arg)	EDNRA (H33R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2655114	NM_001957.4(EDNRA):c.143T>C (p.Leu48Pro)	EDNRA (L48P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1930339	NM_001957.4(EDNRA):c.179C>A (p.Pro60His)	EDNRA (P60H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1592194	NM_001957.4(EDNRA):c.189C>T (p.Gly63=)	EDNRA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3274515	NM_001957.4(EDNRA):c.209C>T (p.Pro70Leu)	EDNRA (P70L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2834898	NM_001957.4(EDNRA):c.233C>T (p.Ala78Val)	EDNRA (A78V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 745145	NM_001957.4(EDNRA):c.243C>T (p.Tyr81=)	EDNRA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1429637	NM_001957.4(EDNRA):c.244A>C (p.Ile82Leu)	EDNRA (I82L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2620131	NM_001957.4(EDNRA):c.249C>A (p.Asn83Lys)	EDNRA (N83K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1537732	NM_001957.4(EDNRA):c.256A>G (p.Ile86Val)	EDNRA (I86V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2180854	NM_001957.4(EDNRA):c.277G>A (p.Val93Met)	EDNRA (V93M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2335919	NM_001957.4(EDNRA):c.286G>A (p.Val96Met)	EDNRA (V96M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 748956	NM_001957.4(EDNRA):c.303G>C (p.Leu101=)	EDNRA	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1517505	NM_001957.4(EDNRA):c.308G>T (p.Arg103Met)	EDNRA (R103M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2155831	NM_001957.4(EDNRA):c.348C>T (p.Asn116=)	EDNRA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2070038	NM_001957.4(EDNRA):c.350C>T (p.Ala117Val)	EDNRA (A117V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 721740	NM_001957.4(EDNRA):c.354G>A (p.Leu118=)	EDNRA	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 3337069	NM_001957.4(EDNRA):c.386A>G (p.Tyr129Cys)	EDNRA (Y129C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 190323	NM_001957.4(EDNRA):c.386A>T (p.Tyr129Phe)	EDNRA (Y129F)	Single nucleotide variant (missense variant +1 more)	Mandibulofacial dysostosis with alopecia	GPathogenic
Select item 1497121	NM_001957.4(EDNRA):c.397G>A (p.Asp133Asn)	EDNRA (D133N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1593512	NM_001957.4(EDNRA):c.420+12C>G	EDNRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1573717	NM_001957.4(EDNRA):c.420+13C>T	EDNRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226469	NM_001957.4(EDNRA):c.420+26G>A	EDNRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707449	Single allele	ARHGAP10, EDNRA +21 more	Duplication	not specified	GUncertain significance
Select item 2461249	NM_001957.4(EDNRA):c.463G>A (p.Val155Ile)	EDNRA (V155I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 520836	NM_001957.4(EDNRA):c.503C>T (p.Ser168Leu)	EDNRA (S168L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2913754	NM_001957.4(EDNRA):c.504G>A (p.Ser168=)	EDNRA	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2709408	NM_001957.4(EDNRA):c.505G>T (p.Val169Leu)	EDNRA (V169L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1225984	NM_001957.4(EDNRA):c.548+9G>A	EDNRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1990449	NM_001957.4(EDNRA):c.548+16C>T	EDNRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869125	NM_001957.4(EDNRA):c.549-10T>G	EDNRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 723006	NM_001957.4(EDNRA):c.549-10T>C	EDNRA	Single nucleotide variant (intron variant)	Mandibulofacial dysostosis with alopecia +2 more	GLikely benign
Select item 1425933	NM_001957.4(EDNRA):c.648G>A (p.Leu216=)	EDNRA	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3087204	NM_001957.4(EDNRA):c.665T>C (p.Ile222Thr)	EDNRA (I222T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1449022	NM_001957.4(EDNRA):c.673G>A (p.Val225Ile)	EDNRA (V225I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3026326	NM_001957.4(EDNRA):c.704A>G (p.Gln235Arg)	EDNRA (Q235R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3343351	NM_001957.4(EDNRA):c.730A>G (p.Thr244Ala)	EDNRA (T244A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1581444	NM_001957.4(EDNRA):c.732A>T (p.Thr244=)	EDNRA	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2593527	NM_001957.4(EDNRA):c.742A>G (p.Met248Val)	EDNRA (M248V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1684702	NM_001957.4(EDNRA):c.743T>C (p.Met248Thr)	EDNRA (M248T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2012625	NM_001957.4(EDNRA):c.747+10G>T	EDNRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244390	NM_001957.4(EDNRA):c.748-11dup	EDNRA	Duplication (intron variant)	not provided	GBenign
Select item 1247926	NM_001957.4(EDNRA):c.748-11del	EDNRA	Deletion (intron variant)	not provided	GBenign
Select item 1256683	NM_001957.4(EDNRA):c.748-19_748-18insCT	EDNRA	Insertion (intron variant)	not provided +2 more	GBenign
Select item 1935091	NM_001957.4(EDNRA):c.748-15T>C	EDNRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 730822	NM_001957.4(EDNRA):c.748-9A>T	EDNRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2304624	NM_001957.4(EDNRA):c.756A>C (p.Gln252His)	EDNRA (Q143H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1988796	NM_001957.4(EDNRA):c.780C>T (p.Phe260=)	EDNRA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1513720	NM_001957.4(EDNRA):c.804G>A (p.Leu268=)	EDNRA	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2204782	NM_001957.4(EDNRA):c.815C>T (p.Ala272Val)	EDNRA (A163V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2903296	NM_001957.4(EDNRA):c.816G>A (p.Ala272=)	EDNRA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1940696	NM_001957.4(EDNRA):c.828C>G (p.Thr276=)	EDNRA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 728822	NM_001957.4(EDNRA):c.828C>T (p.Thr276=)	EDNRA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2038529	NM_001957.4(EDNRA):c.856A>G (p.Arg286Gly)	EDNRA (R177G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2970242	NM_001957.4(EDNRA):c.869T>G (p.Leu290Trp)	EDNRA (L181W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2682252	NM_001957.4(EDNRA):c.870G>A (p.Leu290=)	EDNRA	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2117947	NM_001957.4(EDNRA):c.900+10A>G	EDNRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294714	NM_001957.4(EDNRA):c.900+145T>G	EDNRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174366	NM_001957.4(EDNRA):c.900+178G>A	EDNRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266192	NM_001957.4(EDNRA):c.901-195T>C	EDNRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230980	NM_001957.4(EDNRA):c.901-179C>G	EDNRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269686	NM_001957.4(EDNRA):c.901-138G>A	EDNRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2481291	NM_001957.4(EDNRA):c.901C>T (p.Arg301Cys)	EDNRA (R192C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 190324	NM_001957.4(EDNRA):c.907G>A (p.Glu303Lys)	EDNRA (E303K +1 more)	Single nucleotide variant (missense variant +1 more)	Mandibulofacial dysostosis with alopecia	GPathogenic
Select item 3236382	NM_001957.4(EDNRA):c.955T>A (p.Trp319Arg)	EDNRA (W210R +1 more)	Single nucleotide variant (missense variant +1 more)	Mandibulofacial dysostosis with alopecia	GUncertain significance
Select item 1244028	NM_001957.4(EDNRA):c.969T>C (p.His323=)	EDNRA	Single nucleotide variant (synonymous variant +1 more)	Mandibulofacial dysostosis with alopecia +1 more	GBenign
Select item 1255371	NM_001957.4(EDNRA):c.1005G>A (p.Glu335=)	EDNRA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2597473	NM_001957.4(EDNRA):c.1007T>C (p.Met336Thr)	EDNRA (M336T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298041	NM_001957.4(EDNRA):c.1030C>G (p.Leu344Val)	EDNRA (L235V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1654745	NM_001957.4(EDNRA):c.1034+19G>A	EDNRA	Single nucleotide variant (intron variant)	Migraine with or without aura, susceptibility to, 1 +2 more	GBenign/Likely benign
Select item 1235906	NM_001957.4(EDNRA):c.1034+52T>C	EDNRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233007	NM_001957.4(EDNRA):c.1035-151G>A	EDNRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2573691	NM_001957.4(EDNRA):c.1072G>A (p.Ala358Thr)	EDNRA (A249T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 745811	NM_001957.4(EDNRA):c.1110T>C (p.Tyr370=)	EDNRA	Single nucleotide variant (synonymous variant +1 more)	Migraine with or without aura, susceptibility to, 1 +2 more	GBenign/Likely benign
Select item 635169	NM_001957.4(EDNRA):c.1142A>C (p.Gln381Pro)	EDNRA (Q381P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1175503	NM_001957.4(EDNRA):c.1143+54A>C	EDNRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2020760	NM_001957.4(EDNRA):c.1144-7C>T	EDNRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1982257	NM_001957.4(EDNRA):c.1144-3C>A	EDNRA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 711201	NM_001957.4(EDNRA):c.1146A>G (p.Ser382=)	EDNRA	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 2034240	NM_001957.4(EDNRA):c.1161C>T (p.Cys387=)	EDNRA	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2184892	NM_001957.4(EDNRA):c.1173C>G (p.Ser391=)	EDNRA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2712721	NM_001957.4(EDNRA):c.1190C>T (p.Ser397Leu)	EDNRA (S288L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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