ClinVar for Gene (Select 8492) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339874	NM_003619.4(PRSS12):c.2269_2270del (p.Arg757fs)	PRSS12 (R757fs)	Microsatellite (frameshift variant)	not specified	GUncertain significance
Select item 3339175	NM_003619.4(PRSS12):c.2155C>T (p.Arg719Ter)	PRSS12 (R719*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3310668	NM_003619.4(PRSS12):c.1098G>T (p.Glu366Asp)	PRSS12 (E366D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310667	NM_003619.4(PRSS12):c.400C>T (p.Arg134Cys)	PRSS12 (R134C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310666	NM_003619.4(PRSS12):c.550G>C (p.Glu184Gln)	PRSS12 (E184Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310665	NM_003619.4(PRSS12):c.2470G>C (p.Asp824His)	PRSS12 (D824H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310664	NM_003619.4(PRSS12):c.1243G>A (p.Gly415Ser)	PRSS12 (G415S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234204	NM_003619.4(PRSS12):c.2175T>C (p.Tyr725=)	PRSS12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3219810	NM_003619.4(PRSS12):c.986C>T (p.Ala329Val)	PRSS12 (A329V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219809	NM_003619.4(PRSS12):c.940G>T (p.Ala314Ser)	PRSS12 (A314S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219808	NM_003619.4(PRSS12):c.874C>T (p.Arg292Trp)	PRSS12 (R292W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219807	NM_003619.4(PRSS12):c.557A>G (p.Tyr186Cys)	PRSS12 (Y186C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219806	NM_003619.4(PRSS12):c.368C>T (p.Pro123Leu)	PRSS12 (P123L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219805	NM_003619.4(PRSS12):c.340G>A (p.Glu114Lys)	PRSS12 (E114K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219804	NM_003619.4(PRSS12):c.2497C>T (p.Arg833Trp)	PRSS12 (R833W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219803	NM_003619.4(PRSS12):c.2483C>T (p.Pro828Leu)	PRSS12 (P828L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219802	NM_003619.4(PRSS12):c.2390G>A (p.Arg797His)	PRSS12 (R797H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219800	NM_003619.4(PRSS12):c.2098C>T (p.Pro700Ser)	PRSS12 (P700S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219799	NM_003619.4(PRSS12):c.206C>T (p.Pro69Leu)	PRSS12 (P69L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219798	NM_003619.4(PRSS12):c.2069T>A (p.Val690Asp)	PRSS12 (V690D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219797	NM_003619.4(PRSS12):c.19G>C (p.Val7Leu)	PRSS12 (V7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219795	NM_003619.4(PRSS12):c.1987G>T (p.Ala663Ser)	PRSS12 (A663S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219794	NM_003619.4(PRSS12):c.1139C>T (p.Thr380Ile)	PRSS12 (T380I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 disorder	GLikely benign
Select item 3050882	NM_003619.4(PRSS12):c.1266C>T (p.Tyr422=)	PRSS12	Single nucleotide variant (synonymous variant)	PRSS12-related disorder	GLikely benign
Select item 3045211	NM_003619.4(PRSS12):c.180G>C (p.Pro60=)	PRSS12	Single nucleotide variant (synonymous variant)	PRSS12-related disorder	GLikely benign
Select item 3035667	NM_003619.4(PRSS12):c.1278A>G (p.Arg426=)	PRSS12	Single nucleotide variant (synonymous variant)	PRSS12-related disorder	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	HPGDS, SCRG1 +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	SPOCK3, SPRY1 +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 2664601	NM_003619.4(PRSS12):c.316G>C (p.Gly106Arg)	PRSS12 (G106R)	Single nucleotide variant (missense variant)	not provided	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)	not specified	GUncertain significance
Select item 2610320	NM_003619.4(PRSS12):c.2236G>A (p.Val746Ile)	PRSS12 (V746I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606544	NM_003619.4(PRSS12):c.2527G>A (p.Val843Met)	PRSS12 (V843M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604625	NM_003619.4(PRSS12):c.591C>A (p.Ser197Arg)	PRSS12 (S197R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601692	NM_003619.4(PRSS12):c.2525G>A (p.Gly842Glu)	PRSS12 (G842E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594726	NM_003619.4(PRSS12):c.818A>G (p.His273Arg)	PRSS12 (H273R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2588177	NM_003619.4(PRSS12):c.2552G>T (p.Gly851Val)	PRSS12 (G851V)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2557208	NM_003619.4(PRSS12):c.826A>G (p.Thr276Ala)	PRSS12 (T276A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2552908	NM_003619.4(PRSS12):c.1630A>G (p.Lys544Glu)	PRSS12 (K544E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552837	NM_003619.4(PRSS12):c.343G>A (p.Val115Met)	PRSS12 (V115M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545268	NM_003619.4(PRSS12):c.2216G>A (p.Cys739Tyr)	PRSS12 (C739Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538361	NM_003619.4(PRSS12):c.598G>A (p.Asp200Asn)	PRSS12 (D200N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534079	NM_003619.4(PRSS12):c.1397C>A (p.Ser466Tyr)	PRSS12 (S466Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508565	NM_003619.4(PRSS12):c.1615C>T (p.Arg539Cys)	PRSS12 (R539C)	Single nucleotide variant (missense variant)	not specified	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	Gno classifications from unflagged records
Select item 2500692	NM_003619.4(PRSS12):c.359A>C (p.Glu120Ala)	PRSS12 (E120A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1 +1 more	GUncertain significance
Select item 2482119	NM_003619.4(PRSS12):c.73C>G (p.Leu25Val)	PRSS12 (L25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480965	NM_003619.4(PRSS12):c.2492G>T (p.Cys831Phe)	PRSS12 (C831F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480826	NM_003619.4(PRSS12):c.2108T>G (p.Phe703Cys)	PRSS12 (F703C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472978	NM_003619.4(PRSS12):c.2164C>T (p.Arg722Cys)	PRSS12 (R722C)	Single nucleotide variant (missense variant)	not specified	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 +1 more	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)	not specified	GUncertain significance
Select item 2390870	NM_003619.4(PRSS12):c.2020G>T (p.Ala674Ser)	PRSS12 (A674S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382352	NM_003619.4(PRSS12):c.1919G>C (p.Gly640Ala)	PRSS12 (G640A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355894	NM_003619.4(PRSS12):c.332G>T (p.Arg111Leu)	PRSS12 (R111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338555	NM_003619.4(PRSS12):c.2534C>T (p.Ser845Phe)	PRSS12 (S845F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338013	NM_003619.4(PRSS12):c.2050A>C (p.Ser684Arg)	PRSS12 (S684R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337835	NM_003619.4(PRSS12):c.925T>C (p.Trp309Arg)	PRSS12 (W309R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330925	NM_003619.4(PRSS12):c.1432C>T (p.Arg478Cys)	PRSS12 (R478C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330861	NM_003619.4(PRSS12):c.2595T>G (p.Phe865Leu)	PRSS12 (F865L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328052	NM_003619.4(PRSS12):c.2401C>T (p.Arg801Trp)	PRSS12 (R801W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297208	NM_003619.4(PRSS12):c.142C>A (p.Pro48Thr)	PRSS12 (P48T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292455	NM_003619.4(PRSS12):c.1697A>C (p.Asn566Thr)	PRSS12 (N566T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285406	NM_003619.4(PRSS12):c.1286G>A (p.Gly429Glu)	PRSS12 (G429E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282687	NM_003619.4(PRSS12):c.913T>C (p.Cys305Arg)	PRSS12 (C305R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269930	NM_003619.4(PRSS12):c.1634G>T (p.Gly545Val)	PRSS12 (G545V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251451	NM_003619.4(PRSS12):c.419G>C (p.Ser140Thr)	PRSS12 (S140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234385	NM_003619.4(PRSS12):c.713G>A (p.Arg238His)	PRSS12 (R238H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233486	NM_003619.4(PRSS12):c.450C>A (p.Phe150Leu)	PRSS12 (F150L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1793834	NM_003619.4(PRSS12):c.2613T>C (p.Ser871=)	PRSS12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1792267	NM_003619.4(PRSS12):c.2502C>T (p.Pro834=)	PRSS12	Single nucleotide variant (synonymous variant)	not specified	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	TNIP3, TRPC3 +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)	not specified +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)	MAD2L1, METTL14 +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	GUncertain significance
Select item 1029732	NM_003619.4(PRSS12):c.235G>C (p.Ala79Pro)	PRSS12 (A79P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1 +1 more	GUncertain significance

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