ClinVar for Gene (Select 145270) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309916	NM_178013.4(PRIMA1):c.104G>A (p.Gly35Asp)	PRIMA1 (G35D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244044	NC_000014.8:g.(?_94245502)_(94245677_?)del	PRIMA1	Deletion	Sleep-related hypermotor epilepsy	GPathogenic
Select item 3244043	NC_000014.8:g.(?_94187790)_(94254064_?)del	PRIMA1	Deletion	Sleep-related hypermotor epilepsy	GPathogenic
Select item 3218675	NM_178013.4(PRIMA1):c.25C>T (p.Arg9Cys)	PRIMA1 (R9C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2979609	NM_178013.4(PRIMA1):c.94-19C>T	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 2960078	NM_178013.4(PRIMA1):c.18G>A (p.Leu6=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 2913433	NM_178013.4(PRIMA1):c.80G>A (p.Trp27Ter)	PRIMA1 (W27*)	Single nucleotide variant (nonsense)	Sleep-related hypermotor epilepsy	GPathogenic
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 2883231	NM_178013.4(PRIMA1):c.360-9C>T	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 2865976	NM_178013.4(PRIMA1):c.54G>A (p.Leu18=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 2846369	NM_178013.4(PRIMA1):c.24G>A (p.Leu8=)	PRIMA1	Single nucleotide variant (synonymous 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 2823607	NM_178013.4(PRIMA1):c.51G>T (p.Leu17=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
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 2801850	NM_178013.4(PRIMA1):c.351C>T (p.Ala117=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 2779822	NM_178013.4(PRIMA1):c.16T>C (p.Leu6=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 2753700	NM_178013.4(PRIMA1):c.94-6G>A	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 2736780	NM_178013.4(PRIMA1):c.360-12C>G	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 2736522	NM_178013.4(PRIMA1):c.93+8G>C	PRIMA1	Single nucleotide variant (intron 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 2711131	NM_178013.4(PRIMA1):c.279G>A (p.Leu93=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
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 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
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 2570894	GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1	ASB2, ATXN3 +48 more	Copy number loss	not provided	GPathogenic
Select item 2427563	NC_000014.8:g.(?_94187790)_(94187912_?)del	PRIMA1	Deletion	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SNHG10, TDP1 +66 more	Duplication	not provided	GUncertain significance
Select item 2425046	NC_000014.8:g.(?_90429459)_(94856914_?)dup	SLC24A4, TC2N +42 more	Duplication	Achondrogenesis, type IA	GUncertain significance
Select item 2372095	NM_178013.4(PRIMA1):c.41G>T (p.Trp14Leu)	PRIMA1 (W14L)	Single nucleotide variant (missense variant)	not specified	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 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 2183873	NM_178013.4(PRIMA1):c.94-20A>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 2154997	NM_178013.4(PRIMA1):c.90G>T (p.Val30=)	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 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 2106710	NM_178013.4(PRIMA1):c.408C>G (p.Pro136=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 2103620	NM_178013.4(PRIMA1):c.93+20C>A	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	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 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 2098859	NM_178013.4(PRIMA1):c.93+7C>A	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
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 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 2038635	NM_178013.4(PRIMA1):c.441C>T (p.Asp147=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 2028445	NM_178013.4(PRIMA1):c.230-14_230-12del	PRIMA1	Deletion (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1981841	NM_178013.4(PRIMA1):c.48G>C (p.Ser16=)	PRIMA1	Single nucleotide variant (synonymous 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 1903491	NM_178013.4(PRIMA1):c.360-17C>T	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
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 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
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 1663675	NM_178013.4(PRIMA1):c.360-11C>T	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1663012	NM_178013.4(PRIMA1):c.94-12C>A	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1655289	NM_178013.4(PRIMA1):c.93+12C>G	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1652779	NM_178013.4(PRIMA1):c.93+18C>T	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
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 1644469	NM_178013.4(PRIMA1):c.94-18G>A	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GBenign
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 1621279	NM_178013.4(PRIMA1):c.360-15T>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 1612136	NM_178013.4(PRIMA1):c.93+7C>T	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 1577982	NM_178013.4(PRIMA1):c.360-10C>T	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign
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 1573361	NM_178013.4(PRIMA1):c.230-20G>C	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 1549193	NM_178013.4(PRIMA1):c.189G>A (p.Pro63=)	PRIMA1	Single nucleotide variant (synonymous variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 1527831	GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741)	ASB2, ATXN3 +50 more	Copy number loss	not specified	GPathogenic
Select item 1523644	NM_178013.4(PRIMA1):c.98C>T (p.Thr33Met)	PRIMA1 (T33M)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 1522910	NM_178013.4(PRIMA1):c.22C>G (p.Leu8Val)	PRIMA1 (L8V)	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 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 1506929	NM_178013.4(PRIMA1):c.94-10A>G	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 1500995	NM_178013.4(PRIMA1):c.33_34inv (p.Cys12Gly)	PRIMA1 (C12G)	Inversion (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 1498013	NM_178013.4(PRIMA1):c.11G>A (p.Arg4Gln)	PRIMA1 (R4Q)	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 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 1475815	NM_178013.4(PRIMA1):c.88G>A (p.Val30Met)	PRIMA1 (V30M)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
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 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 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 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 1415717	NM_178013.4(PRIMA1):c.359+6T>A	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 1414711	NM_178013.4(PRIMA1):c.82G>C (p.Gly28Arg)	PRIMA1 (G28R)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 1404346	NM_178013.4(PRIMA1):c.13G>A (p.Asp5Asn)	PRIMA1 (D5N)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
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 1396213	NM_178013.4(PRIMA1):c.8T>C (p.Leu3Pro)	PRIMA1 (L3P)	Single nucleotide variant (missense variant)	Sleep-related hypermotor epilepsy	GUncertain significance
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 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 1378161	NM_178013.4(PRIMA1):c.26G>T (p.Arg9Leu)	PRIMA1 (R9L)	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 1348382	NC_000014.8:g.(?_93687728)_(95560403_?)del	ASB2, BTBD7 +23 more	Deletion	DICER1-related tumor predisposition	GLikely pathogenic
Select item 1347960	NM_178013.4(PRIMA1):c.98_99delinsTA (p.Thr33Ile)	PRIMA1 (T33I)	Indel (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 1154458	NM_178013.4(PRIMA1):c.360-9C>A	PRIMA1	Single nucleotide variant (intron variant)	Sleep-related hypermotor epilepsy	GLikely benign

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