PRIMA1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	ADSS1, AK7 +662 more	Copy number gain	See cases	GPathogenic
Select item 1063715	NM_178013.4(PRIMA1):c.455T>C (p.Val152Ala)	PRIMA1 (V152A)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 1520943	NM_178013.4(PRIMA1):c.451G>C (p.Ala151Pro)	PRIMA1 (A151P)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 1026361	NM_178013.4(PRIMA1):c.451G>A (p.Ala151Thr)	PRIMA1 (A151T)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 1576391	NM_178013.4(PRIMA1):c.450C>T (p.Asn150=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1147411	NM_178013.4(PRIMA1):c.444G>A (p.Val148=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1024518	NM_178013.4(PRIMA1):c.442G>A (p.Val148Met)	PRIMA1 (V148M)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 2038635	NM_178013.4(PRIMA1):c.441C>T (p.Asp147=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 941756	NM_178013.4(PRIMA1):c.441C>A (p.Asp147Glu)	PRIMA1 (D147E)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 2287011	NM_178013.4(PRIMA1):c.440A>G (p.Asp147Gly)	PRIMA1 (D147G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1419590	NM_178013.4(PRIMA1):c.433G>A (p.Gly145Arg)	PRIMA1 (G145R)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 843428	NM_178013.4(PRIMA1):c.431A>G (p.Lys144Arg)	PRIMA1 (K144R)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 960553	NM_178013.4(PRIMA1):c.426C>G (p.Ser142Arg)	PRIMA1 (S142R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 586377	NM_178013.4(PRIMA1):c.420G>A (p.Ser140=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy +1 more	GBenign
Select item 1045544	NM_178013.4(PRIMA1):c.419C>T (p.Ser140Leu)	PRIMA1 (S140L)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 2106710	NM_178013.4(PRIMA1):c.408C>G (p.Pro136=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 476373	NM_178013.4(PRIMA1):c.402G>A (p.Glu134=)	PRIMA1	Single nucleotide variant (synonymous variant)	PRIMA1-related disorder +1 more	GBenign/Likely benign
Select item 1401886	NM_178013.4(PRIMA1):c.398C>T (p.Ala133Val)	PRIMA1 (A133V)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 939389	NM_178013.4(PRIMA1):c.394G>A (p.Val132Ile)	PRIMA1 (V132I)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 1087850	NM_178013.4(PRIMA1):c.393C>T (p.Ser131=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 2724136	NM_178013.4(PRIMA1):c.387C>T (p.Gly129=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 2128241	NM_178013.4(PRIMA1):c.383A>G (p.Asn128Ser)	PRIMA1 (N128S)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 1445743	NM_178013.4(PRIMA1):c.379G>A (p.Glu127Lys)	PRIMA1 (E127K)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 542929	NM_178013.4(PRIMA1):c.378C>T (p.Asp126=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1138862	NM_178013.4(PRIMA1):c.366A>G (p.Pro122=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1019024	NM_178013.4(PRIMA1):c.365C>T (p.Pro122Leu)	PRIMA1 (P122L)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 845343	NM_178013.4(PRIMA1):c.364C>T (p.Pro122Ser)	PRIMA1 (P122S)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 799268	NM_178013.4(PRIMA1):c.360-4C>G	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1615123	NM_178013.4(PRIMA1):c.360-8A>G	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 2883231	NM_178013.4(PRIMA1):c.360-9C>T	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1154458	NM_178013.4(PRIMA1):c.360-9C>A	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1577982	NM_178013.4(PRIMA1):c.360-10C>T	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1663675	NM_178013.4(PRIMA1):c.360-11C>T	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 2736780	NM_178013.4(PRIMA1):c.360-12C>G	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 2165655	NM_178013.4(PRIMA1):c.360-12C>T	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1571914	NM_178013.4(PRIMA1):c.360-14C>A	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1621279	NM_178013.4(PRIMA1):c.360-15T>G	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1903491	NM_178013.4(PRIMA1):c.360-17C>T	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 2829780	NM_178013.4(PRIMA1):c.359+12C>G	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 2741387	NM_178013.4(PRIMA1):c.359+6_359+7insA	PRIMA1	Insertion (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1415717	NM_178013.4(PRIMA1):c.359+6T>A	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 1021283	NM_178013.4(PRIMA1):c.353T>C (p.Ile118Thr)	PRIMA1 (I118T)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 950669	NM_178013.4(PRIMA1):c.352A>G (p.Ile118Val)	PRIMA1 (I118V)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 2801850	NM_178013.4(PRIMA1):c.351C>T (p.Ala117=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1433934	NM_178013.4(PRIMA1):c.341G>A (p.Cys114Tyr)	PRIMA1 (C114Y)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 542926	NM_178013.4(PRIMA1):c.332T>C (p.Val111Ala)	PRIMA1 (V111A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2098747	NM_178013.4(PRIMA1):c.316T>A (p.Phe106Ile)	PRIMA1 (F106I)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 1147359	NM_178013.4(PRIMA1):c.315G>A (p.Val105=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1478746	NM_178013.4(PRIMA1):c.313G>A (p.Val105Met)	PRIMA1 (V105M)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 2192466	NM_178013.4(PRIMA1):c.308C>T (p.Ser103Phe)	PRIMA1 (S103F)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 1651515	NM_178013.4(PRIMA1):c.300C>T (p.Cys100=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 648361	NM_178013.4(PRIMA1):c.295G>A (p.Val99Ile)	PRIMA1 (V99I)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy +1 more	GUncertain significance
Select item 1671754	NM_178013.4(PRIMA1):c.294C>T (p.Ala98=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 654832	NM_178013.4(PRIMA1):c.292G>A (p.Ala98Thr)	PRIMA1 (A98T)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 2606961	NM_178013.4(PRIMA1):c.290T>C (p.Ile97Thr)	PRIMA1 (I97T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2816128	NM_178013.4(PRIMA1):c.285C>T (p.Ile95=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 2711131	NM_178013.4(PRIMA1):c.279G>A (p.Leu93=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1124342	NM_178013.4(PRIMA1):c.273G>A (p.Ser91=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1392873	NM_178013.4(PRIMA1):c.272C>T (p.Ser91Leu)	PRIMA1 (S91L)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 1345325	NM_178013.4(PRIMA1):c.272C>G (p.Ser91Trp)	PRIMA1 (S91W)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 1496815	NM_178013.4(PRIMA1):c.270G>A (p.Trp90Ter)	PRIMA1 (W90*)	Single nucleotide variant (nonsense)	Sleep-related hypermotor epilepsy	GPathogenic
Select item 772133	NM_178013.4(PRIMA1):c.252C>T (p.Pro84=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1392225	NM_178013.4(PRIMA1):c.250C>G (p.Pro84Ala)	PRIMA1 (P84A)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 2109230	NM_178013.4(PRIMA1):c.239C>G (p.Ser80Cys)	PRIMA1 (S80C)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 1522111	NM_178013.4(PRIMA1):c.236A>G (p.Asn79Ser)	PRIMA1 (N79S)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 2028445	NM_178013.4(PRIMA1):c.230-14_230-12del	PRIMA1	Deletion (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1573361	NM_178013.4(PRIMA1):c.230-20G>C	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1580803	NM_178013.4(PRIMA1):c.229+14C>T	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1968083	NM_178013.4(PRIMA1):c.229+11G>A	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 581545	NM_178013.4(PRIMA1):c.228A>T (p.Pro76=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 2101442	NM_178013.4(PRIMA1):c.226C>T (p.Pro76Ser)	PRIMA1 (P76S)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 1624345	NM_178013.4(PRIMA1):c.225C>G (p.Ala75=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1464852	NM_178013.4(PRIMA1):c.223G>A (p.Ala75Thr)	PRIMA1 (A75T)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 476372	NM_178013.4(PRIMA1):c.222C>T (p.Ser74=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GBenign
Select item 1140628	NM_178013.4(PRIMA1):c.201G>A (p.Pro67=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1055237	NM_178013.4(PRIMA1):c.186_194dup (p.Pro68_Pro70dup)	PRIMA1	Duplication (inframe_insertion)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 2696119	NM_178013.4(PRIMA1):c.192C>A (p.Pro64=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 3042019	NM_178013.4(PRIMA1):c.189G>C (p.Pro63=)	PRIMA1	Single nucleotide variant (synonymous variant)	PRIMA1-related disorder	GLikely benign
Select item 2102761	NM_178013.4(PRIMA1):c.189G>T (p.Pro63=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1549193	NM_178013.4(PRIMA1):c.189G>A (p.Pro63=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 2073791	NM_178013.4(PRIMA1):c.188C>T (p.Pro63Leu)	PRIMA1 (P63L)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 774092	NM_178013.4(PRIMA1):c.186G>A (p.Pro62=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1131767	NM_178013.4(PRIMA1):c.183C>T (p.Pro61=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 2906000	NM_178013.4(PRIMA1):c.177G>A (p.Pro59=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 860570	NM_178013.4(PRIMA1):c.176C>T (p.Pro59Leu)	PRIMA1 (P59L)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy +1 more	GUncertain significance
Select item 1078822	NM_178013.4(PRIMA1):c.171T>A (p.Pro57=)	PRIMA1	Single nucleotide variant (synonymous variant)	PRIMA1-related disorder +1 more	GLikely benign
Select item 1713851	NM_178013.4(PRIMA1):c.170C>A (p.Pro57His)	PRIMA1 (P57H)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 542927	NM_178013.4(PRIMA1):c.164G>A (p.Arg55Gln)	PRIMA1 (R55Q)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 1359842	NM_178013.4(PRIMA1):c.163C>T (p.Arg55Trp)	PRIMA1 (R55W)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy +1 more	GUncertain significance
Select item 965555	NM_178013.4(PRIMA1):c.151G>A (p.Val51Ile)	PRIMA1 (V51I)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 1023789	NM_178013.4(PRIMA1):c.149A>T (p.His50Leu)	PRIMA1 (H50L)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 860641	NM_178013.4(PRIMA1):c.146G>A (p.Arg49Gln)	PRIMA1 (R49Q)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 1080035	NM_178013.4(PRIMA1):c.120C>T (p.Ser40=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign

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