ClinVar for Gene (Select 8492) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3058694	NM_003619.4(PRSS12):c.1356C>T (p.Asp452=)	PRSS12	Single nucleotide variant (synonymous variant)	PRSS12-related condition	GLikely benign
Select item 3050882	NM_003619.4(PRSS12):c.1266C>T (p.Tyr422=)	PRSS12	Single nucleotide variant (synonymous variant)	PRSS12-related condition	GLikely benign
Select item 3045211	NM_003619.4(PRSS12):c.180G>C (p.Pro60=)	PRSS12	Single nucleotide variant (synonymous variant)	PRSS12-related condition	GLikely benign
Select item 3035667	NM_003619.4(PRSS12):c.1278A>G (p.Arg426=)	PRSS12	Single nucleotide variant (synonymous variant)	PRSS12-related condition	GLikely benign
Select item 3026235	NM_003619.4(PRSS12):c.2127T>A (p.Val709=)	PRSS12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2689833	NM_003619.4(PRSS12):c.1402C>T (p.Arg468Ter)	PRSS12 (R468*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 2682539	NM_003619.4(PRSS12):c.1843C>T (p.Leu615Phe)	PRSS12 (L615F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2682399	NM_003619.4(PRSS12):c.1888C>T (p.Arg630Trp)	PRSS12 (R630W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637652	NM_003619.4(PRSS12):c.1917-1G>C	PRSS12	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 2616075	NM_003619.4(PRSS12):c.1615C>A (p.Arg539Ser)	PRSS12 (R539S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610320	NM_003619.4(PRSS12):c.2236G>A (p.Val746Ile)	PRSS12 (V746I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606544	NM_003619.4(PRSS12):c.2527G>A (p.Val843Met)	PRSS12 (V843M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604625	NM_003619.4(PRSS12):c.591C>A (p.Ser197Arg)	PRSS12 (S197R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601692	NM_003619.4(PRSS12):c.2525G>A (p.Gly842Glu)	PRSS12 (G842E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594726	NM_003619.4(PRSS12):c.818A>G (p.His273Arg)	PRSS12 (H273R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2588177	NM_003619.4(PRSS12):c.2552G>T (p.Gly851Val)	PRSS12 (G851V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2581017	NM_003619.4(PRSS12):c.113C>T (p.Pro38Leu)	PRSS12 (P38L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 2573508	NM_003619.4(PRSS12):c.718C>T (p.Arg240Ter)	PRSS12 (R240*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2562007	NM_003619.4(PRSS12):c.2450G>A (p.Arg817His)	PRSS12 (R817H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557208	NM_003619.4(PRSS12):c.826A>G (p.Thr276Ala)	PRSS12 (T276A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2552908	NM_003619.4(PRSS12):c.1630A>G (p.Lys544Glu)	PRSS12 (K544E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552837	NM_003619.4(PRSS12):c.343G>A (p.Val115Met)	PRSS12 (V115M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545268	NM_003619.4(PRSS12):c.2216G>A (p.Cys739Tyr)	PRSS12 (C739Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538361	NM_003619.4(PRSS12):c.598G>A (p.Asp200Asn)	PRSS12 (D200N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534079	NM_003619.4(PRSS12):c.1397C>A (p.Ser466Tyr)	PRSS12 (S466Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508565	NM_003619.4(PRSS12):c.1615C>T (p.Arg539Cys)	PRSS12 (R539C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2502342	NM_003619.4(PRSS12):c.1501A>T (p.Arg501Ter)	PRSS12 (R501*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 1	GLikely pathogenic
Select item 2500692	NM_003619.4(PRSS12):c.359A>C (p.Glu120Ala)	PRSS12 (E120A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 2482119	NM_003619.4(PRSS12):c.73C>G (p.Leu25Val)	PRSS12 (L25V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480965	NM_003619.4(PRSS12):c.2492G>T (p.Cys831Phe)	PRSS12 (C831F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480826	NM_003619.4(PRSS12):c.2108T>G (p.Phe703Cys)	PRSS12 (F703C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472978	NM_003619.4(PRSS12):c.2164C>T (p.Arg722Cys)	PRSS12 (R722C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445956	NM_003619.4(PRSS12):c.2116G>T (p.Glu706Ter)	PRSS12 (E706*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2435267	NM_003619.4(PRSS12):c.1918G>C (p.Gly640Arg)	PRSS12 (G640R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 2435266	NM_003619.4(PRSS12):c.2268_2274delinsAC (p.Arg757fs)	PRSS12 (R757fs)	Indel (frameshift variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 2397842	NM_003619.4(PRSS12):c.595T>G (p.Trp199Gly)	PRSS12 (W199G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390870	NM_003619.4(PRSS12):c.2020G>T (p.Ala674Ser)	PRSS12 (A674S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382352	NM_003619.4(PRSS12):c.1919G>C (p.Gly640Ala)	PRSS12 (G640A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355894	NM_003619.4(PRSS12):c.332G>T (p.Arg111Leu)	PRSS12 (R111L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338555	NM_003619.4(PRSS12):c.2534C>T (p.Ser845Phe)	PRSS12 (S845F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338013	NM_003619.4(PRSS12):c.2050A>C (p.Ser684Arg)	PRSS12 (S684R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337835	NM_003619.4(PRSS12):c.925T>C (p.Trp309Arg)	PRSS12 (W309R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330925	NM_003619.4(PRSS12):c.1432C>T (p.Arg478Cys)	PRSS12 (R478C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330861	NM_003619.4(PRSS12):c.2595T>G (p.Phe865Leu)	PRSS12 (F865L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328052	NM_003619.4(PRSS12):c.2401C>T (p.Arg801Trp)	PRSS12 (R801W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297208	NM_003619.4(PRSS12):c.142C>A (p.Pro48Thr)	PRSS12 (P48T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292455	NM_003619.4(PRSS12):c.1697A>C (p.Asn566Thr)	PRSS12 (N566T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285406	NM_003619.4(PRSS12):c.1286G>A (p.Gly429Glu)	PRSS12 (G429E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282687	NM_003619.4(PRSS12):c.913T>C (p.Cys305Arg)	PRSS12 (C305R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269930	NM_003619.4(PRSS12):c.1634G>T (p.Gly545Val)	PRSS12 (G545V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251451	NM_003619.4(PRSS12):c.419G>C (p.Ser140Thr)	PRSS12 (S140T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234385	NM_003619.4(PRSS12):c.713G>A (p.Arg238His)	PRSS12 (R238H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233486	NM_003619.4(PRSS12):c.450C>A (p.Phe150Leu)	PRSS12 (F150L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1793834	NM_003619.4(PRSS12):c.2613T>C (p.Ser871=)	PRSS12	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1792267	NM_003619.4(PRSS12):c.2502C>T (p.Pro834=)	PRSS12	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1676513	NM_003619.4(PRSS12):c.441_442del (p.Trp148fs)	PRSS12 (W148fs)	Deletion	Intellectual disability, autosomal recessive 1	GLikely pathogenic
Select item 1527119	GRCh37/hg19 4q26-28.2(chr4:116888785-129649979)	ABHD18, ADAD1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1338330	NM_003619.4(PRSS12):c.192_193dup (p.Phe65fs)	PRSS12 (F65fs)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 1336997	NM_003619.4(PRSS12):c.2415A>C (p.Arg805Ser)	PRSS12 (R805S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336638	NM_003619.4(PRSS12):c.537T>C (p.Phe179=)	PRSS12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1336576	NM_003619.4(PRSS12):c.2146C>T (p.Arg716Trp)	PRSS12 (R716W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336217	NM_003619.4(PRSS12):c.2588C>T (p.Ser863Leu)	PRSS12 (S863L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336195	NM_003619.4(PRSS12):c.821-1G>A	PRSS12	Single nucleotide variant (splice acceptor variant)	not specified +1 more	GUncertain significance
Select item 1328453	GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1	ABHD18, ADAD1 +48 more	Copy number loss	not provided	GPathogenic
Select item 1299460	NM_003619.4(PRSS12):c.1435G>A (p.Glu479Lys)	PRSS12 (E479K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1176038	NM_003619.4(PRSS12):c.669G>T (p.Pro223=)	PRSS12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1047888	GRCh37/hg19 4q26-28.2(chr4:116833638-130232122)	FGF2, HSPA4L +43 more	Copy number loss	Delayed speech and language development +1 more	GPathogenic
Select item 1031345	NM_003619.4(PRSS12):c.910G>A (p.Val304Ile)	PRSS12 (V304I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 1031344	NM_003619.4(PRSS12):c.254C>A (p.Thr85Lys)	PRSS12 (T85K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 1031342	NM_003619.4(PRSS12):c.1238A>G (p.Asp413Gly)	PRSS12 (D413G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1 +1 more	GConflicting classifications of pathogenicity
Select item 1029732	NM_003619.4(PRSS12):c.235G>C (p.Ala79Pro)	PRSS12 (A79P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1029730	NM_003619.4(PRSS12):c.2040-1G>C	PRSS12	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 1029729	NM_003619.4(PRSS12):c.121C>T (p.Pro41Ser)	PRSS12 (P41S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 980131	GRCh37/hg19 4q26(chr4:119130975-119516973)x3	SNHG8, PRSS12 +1 more	Copy number gain	not provided	GLikely benign
Select item 903347	NM_003619.4(PRSS12):c.518G>A (p.Arg173His)	PRSS12 (R173H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 903346	NM_003619.4(PRSS12):c.524G>A (p.Gly175Asp)	PRSS12 (G175D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 903345	NM_003619.4(PRSS12):c.821-12C>G	PRSS12	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 903344	NM_003619.4(PRSS12):c.890A>G (p.His297Arg)	PRSS12 (H297R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 903343	NM_003619.4(PRSS12):c.916G>A (p.Asp306Asn)	PRSS12 (D306N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 903270	NM_003619.4(PRSS12):c.2149G>C (p.Glu717Gln)	PRSS12 (E717Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1 +1 more	GUncertain significance
Select item 903269	NM_003619.4(PRSS12):c.2173T>C (p.Tyr725His)	PRSS12 (Y725H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 903268	NM_003619.4(PRSS12):c.2179A>G (p.Ile727Val)	PRSS12 (I727V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 903267	NM_003619.4(PRSS12):c.2503G>A (p.Gly835Arg)	PRSS12 (G835R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 903207	NM_003619.4(PRSS12):c.*950A>C	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 903206	NM_003619.4(PRSS12):c.*1141T>C	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 903205	NM_003619.4(PRSS12):c.*1143C>T	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 903204	NM_003619.4(PRSS12):c.*1431C>T	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 903203	NM_003619.4(PRSS12):c.*1435A>G	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 903202	NM_003619.4(PRSS12):c.*1499A>G	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 903201	NM_003619.4(PRSS12):c.*1573G>A	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 902486	NM_003619.4(PRSS12):c.918T>G (p.Asp306Glu)	PRSS12 (D306E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 902485	NM_003619.4(PRSS12):c.1195C>T (p.Arg399Cys)	PRSS12 (R399C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 902414	NM_003619.4(PRSS12):c.2568T>A (p.Pro856=)	PRSS12	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 902413	NM_003619.4(PRSS12):c.*263A>G	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 902341	NM_003619.4(PRSS12):c.*1577A>G	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance

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