ClinVar for Gene (Select 8082) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3170428	NM_005086.5(SSPN):c.92A>G (p.Lys31Arg)	SSPN (K31R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170426	NM_005086.5(SSPN):c.545C>T (p.Thr182Met)	ITPR2-AS1, SSPN (T79M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3170425	NM_005086.5(SSPN):c.478G>A (p.Asp160Asn)	ITPR2-AS1, SSPN (D160N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3170424	NM_005086.5(SSPN):c.391C>G (p.Leu131Val)	ITPR2-AS1, SSPN (L131V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3170423	NM_005086.5(SSPN):c.133C>T (p.Arg45Trp)	SSPN (R45W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133823	NM_030762.3(BHLHE41):c.299C>A (p.Thr100Asn)	BHLHE41, SSPN (T100N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133822	NM_030762.3(BHLHE41):c.1337C>G (p.Pro446Arg)	BHLHE41, SSPN (P446R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133821	NM_030762.3(BHLHE41):c.1334A>C (p.His445Pro)	BHLHE41, SSPN (H445P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133820	NM_030762.3(BHLHE41):c.1264C>T (p.Pro422Ser)	BHLHE41, SSPN (P422S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133818	NM_030762.3(BHLHE41):c.1196C>T (p.Ala399Val)	BHLHE41, SSPN (A399V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133817	NM_030762.3(BHLHE41):c.1006C>T (p.Pro336Ser)	BHLHE41, SSPN (P336S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3057054	NM_030762.3(BHLHE41):c.893C>T (p.Ala298Val)	BHLHE41, SSPN (A298V)	Single nucleotide variant (missense variant)	BHLHE41-related disorder	GBenign
Select item 3055569	NM_030762.3(BHLHE41):c.1116G>C (p.Leu372=)	BHLHE41, SSPN	Single nucleotide variant (synonymous variant)	BHLHE41-related disorder	GBenign
Select item 3046538	NM_030762.3(BHLHE41):c.844C>T (p.Leu282=)	BHLHE41, SSPN	Single nucleotide variant (synonymous variant)	BHLHE41-related disorder	GLikely benign
Select item 3046119	NM_030762.3(BHLHE41):c.1281CGC[5] (p.Ala431_Thr432insAla)	BHLHE41, SSPN	Microsatellite (inframe insertion)	BHLHE41-related disorder	GLikely benign
Select item 3045908	NM_030762.3(BHLHE41):c.279G>A (p.Leu93=)	BHLHE41, SSPN	Single nucleotide variant (synonymous variant)	BHLHE41-related disorder	GLikely benign
Select item 3041662	NM_030762.3(BHLHE41):c.1323T>A (p.Leu441=)	SSPN, BHLHE41	Single nucleotide variant (synonymous variant)	BHLHE41-related disorder	GLikely benign
Select item 3039300	NM_030762.3(BHLHE41):c.1282G>A (p.Ala428Thr)	BHLHE41, SSPN (A428T)	Single nucleotide variant (missense variant)	BHLHE41-related disorder	GBenign
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2642802	NM_005086.5(SSPN):c.63C>G (p.Ala21=)	SSPN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642801	NM_030762.3(BHLHE41):c.100A>C (p.Arg34=)	SSPN, BHLHE41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642800	NM_030762.3(BHLHE41):c.435C>T (p.Tyr145=)	BHLHE41, SSPN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617439	NM_030762.3(BHLHE41):c.860G>A (p.Gly287Asp)	BHLHE41, SSPN (G287D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615984	NM_030762.3(BHLHE41):c.663C>G (p.Ile221Met)	BHLHE41, SSPN (I221M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596509	NM_030762.3(BHLHE41):c.896C>T (p.Ala299Val)	BHLHE41, SSPN (A299V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591925	NM_005086.5(SSPN):c.339A>C (p.Glu113Asp)	ITPR2-AS1, SSPN (E113D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554901	NM_030762.3(BHLHE41):c.34C>G (p.Gln12Glu)	BHLHE41, SSPN (Q12E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553014	NM_030762.3(BHLHE41):c.658G>A (p.Val220Ile)	BHLHE41, SSPN (V220I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547158	NM_005086.5(SSPN):c.35G>C (p.Arg12Thr)	SSPN (R12T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546991	NM_030762.3(BHLHE41):c.847G>C (p.Asp283His)	BHLHE41, SSPN (D283H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540384	NM_005086.5(SSPN):c.199G>A (p.Val67Met)	SSPN (V67M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537296	NM_030762.3(BHLHE41):c.1364T>G (p.Leu455Arg)	BHLHE41, SSPN (L455R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534645	NM_005086.5(SSPN):c.226A>G (p.Ser76Gly)	SSPN (S76G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530905	NM_005086.5(SSPN):c.403G>T (p.Val135Phe)	ITPR2-AS1, SSPN (V32F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520017	NM_030762.3(BHLHE41):c.820T>A (p.Ser274Thr)	BHLHE41, SSPN (S274T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515380	NM_005086.5(SSPN):c.475C>G (p.Leu159Val)	ITPR2-AS1, SSPN (L159V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511990	NM_030762.3(BHLHE41):c.865A>G (p.Ser289Gly)	BHLHE41, SSPN (S289G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511137	NM_030762.3(BHLHE41):c.1232C>A (p.Ala411Glu)	BHLHE41, SSPN (A411E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507515	NM_030762.3(BHLHE41):c.901G>A (p.Ala301Thr)	BHLHE41, SSPN (A301T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471449	NM_030762.3(BHLHE41):c.1171G>A (p.Gly391Ser)	BHLHE41, SSPN (G391S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2404346	NM_030762.3(BHLHE41):c.950G>A (p.Arg317Lys)	BHLHE41, SSPN (R317K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401545	NM_030762.3(BHLHE41):c.1381C>G (p.Arg461Gly)	BHLHE41, SSPN (R461G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379562	NM_030762.3(BHLHE41):c.373C>G (p.Gln125Glu)	BHLHE41, SSPN (Q125E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369641	NM_005086.5(SSPN):c.686G>A (p.Arg229Lys)	ITPR2-AS1, SSPN (R126K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366493	NM_005086.5(SSPN):c.709G>A (p.Glu237Lys)	ITPR2-AS1, SSPN (E237K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347182	NM_030762.3(BHLHE41):c.1322T>C (p.Leu441Pro)	BHLHE41, SSPN (L441P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2345506	NM_005086.5(SSPN):c.701C>T (p.Thr234Met)	ITPR2-AS1, SSPN (T234M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331899	NM_030762.3(BHLHE41):c.767A>G (p.Lys256Arg)	BHLHE41, SSPN (K256R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327392	NM_005086.5(SSPN):c.208G>A (p.Val70Met)	SSPN (V70M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317754	NM_005086.5(SSPN):c.341G>A (p.Arg114Gln)	ITPR2-AS1, SSPN (R114Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306080	NM_005086.5(SSPN):c.541G>A (p.Val181Met)	ITPR2-AS1, SSPN (V78M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279541	NM_030762.3(BHLHE41):c.883G>C (p.Gly295Arg)	BHLHE41, SSPN (G295R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277249	NM_030762.3(BHLHE41):c.1093C>T (p.Pro365Ser)	BHLHE41, SSPN (P365S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261707	NM_030762.3(BHLHE41):c.1016A>C (p.Gln339Pro)	BHLHE41, SSPN (Q339P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257146	NM_030762.3(BHLHE41):c.550G>A (p.Val184Ile)	BHLHE41, SSPN (V184I)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2250675	NM_030762.3(BHLHE41):c.188G>A (p.Cys63Tyr)	BHLHE41, SSPN (C63Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246619	NM_030762.3(BHLHE41):c.932C>A (p.Ala311Asp)	BHLHE41, SSPN (A311D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238622	NM_005086.5(SSPN):c.616G>A (p.Gly206Ser)	ITPR2-AS1, SSPN (G206S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228763	NM_030762.3(BHLHE41):c.467A>G (p.Glu156Gly)	BHLHE41, SSPN (E156G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220678	NM_030762.3(BHLHE41):c.356C>T (p.Ser119Phe)	BHLHE41, SSPN (S119F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218422	NM_030762.3(BHLHE41):c.71A>G (p.Tyr24Cys)	BHLHE41, SSPN (Y24C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214768	NM_005086.5(SSPN):c.443C>T (p.Ser148Leu)	ITPR2-AS1, SSPN (S148L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209718	NM_030762.3(BHLHE41):c.349G>A (p.Glu117Lys)	BHLHE41, SSPN (E117K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527688	GRCh37/hg19 12p12.3-11.23(chr12:17884992-26704895)	ABCC9, AEBP2 +35 more	Copy number gain	not specified	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1340043	GRCh37/hg19 12p12.1-11.22(chr12:23693737-29545102)x1	BCAT1, BHLHE41 +27 more	Copy number loss	not provided	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 782779	NM_005086.5(SSPN):c.534C>T (p.Tyr178=)	ITPR2-AS1, SSPN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 758237	NM_005086.5(SSPN):c.513G>A (p.Pro171=)	SSPN, ITPR2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712110	NM_030762.3(BHLHE41):c.1080C>G (p.Ala360=)	BHLHE41, SSPN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711572	NM_005086.5(SSPN):c.401C>T (p.Thr134Met)	ITPR2-AS1, SSPN (T31M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 691289	NM_030762.3(BHLHE41):c.1084T>C (p.Tyr362His)	BHLHE41, SSPN (Y362H)	Single nucleotide variant (missense variant)	Short sleep, familial natural, 1	GAffects
Select item 689124	GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)x1	SMCO2, SOX5 +48 more	Copy number loss	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 395235	GRCh37/hg19 12p12.3-11.23(chr12:18037107-26681362)x3	ABCC9, AEBP2 +35 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 148423	GRCh38/hg38 12p12.1-11.23(chr12:26202582-26720731)x3	LOC130007573, LOC130007574 +15 more	Copy number gain	See cases	GUncertain significance
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 58988	GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1	ABCC9, AEBP2 +179 more	Copy number loss	See cases	GPathogenic

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