8492[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	ABCE1, ABHD18 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 153741	GRCh38/hg38 4q26(chr4:117786007-118526099)x3	LINC02264, LOC126807142 +7 more	Copy number gain	See cases	GLikely benign
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 347369	NM_003619.4(PRSS12):c.*1865T>C	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GLikely benign
Select item 347370	NM_003619.4(PRSS12):c.*1699T>C	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 347371	NM_003619.4(PRSS12):c.*1660T>C	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 347372	NM_003619.4(PRSS12):c.*1615C>T	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 902340	NM_003619.4(PRSS12):c.*1595A>G	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GBenign
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
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 347373	NM_003619.4(PRSS12):c.1558_1559del	PRSS12	Deletion (3 prime UTR variant)	Intellectual Disability, Recessive	GBenign
Select item 347374	NM_003619.4(PRSS12):c.*1504G>A	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GLikely benign
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 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 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 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 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 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 347375	NM_003619.4(PRSS12):c.*920G>C	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 899598	NM_003619.4(PRSS12):c.*912G>A	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GBenign
Select item 899599	NM_003619.4(PRSS12):c.*906A>G	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 899600	NM_003619.4(PRSS12):c.*904A>T	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 899601	NM_003619.4(PRSS12):c.*849C>T	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 347376	NM_003619.4(PRSS12):c.*842C>G	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 899602	NM_003619.4(PRSS12):c.*839T>C	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 347377	NM_003619.4(PRSS12):c.*830C>T	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 347378	NM_003619.4(PRSS12):c.*807G>A	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GLikely benign
Select item 900666	NM_003619.4(PRSS12):c.*800G>A	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 347379	NM_003619.4(PRSS12):c.*764A>G	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GLikely benign
Select item 347380	NM_003619.4(PRSS12):c.*672C>T	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GBenign
Select item 900667	NM_003619.4(PRSS12):c.*658C>T	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 900668	NM_003619.4(PRSS12):c.*604A>C	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 347381	NM_003619.4(PRSS12):c.*583del	PRSS12	Deletion (3 prime UTR variant)	Intellectual Disability, Recessive	GUncertain significance
Select item 900669	NM_003619.4(PRSS12):c.*574A>G	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 347382	NM_003619.4(PRSS12):c.*531C>A	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 347383	NM_003619.4(PRSS12):c.*526T>A	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 347384	NM_003619.4(PRSS12):c.*278T>A	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 347385	NM_003619.4(PRSS12):c.*260CCTA[1]	PRSS12	Microsatellite (3 prime UTR variant)	Intellectual Disability, Recessive	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 347386	NM_003619.4(PRSS12):c.*260C>T	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 347387	NM_003619.4(PRSS12):c.*233G>C	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 347388	NM_003619.4(PRSS12):c.*221A>T	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 347389	NM_003619.4(PRSS12):c.*208C>T	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GLikely benign
Select item 347390	NM_003619.4(PRSS12):c.*73GA[1]	PRSS12	Microsatellite (3 prime UTR variant)	Intellectual Disability, Recessive	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 2330861	NM_003619.4(PRSS12):c.2595T>G (p.Phe865Leu)	PRSS12 (F865L)	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 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 2588177	NM_003619.4(PRSS12):c.2552G>T (p.Gly851Val)	PRSS12 (G851V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 347391	NM_003619.4(PRSS12):c.2535C>T (p.Ser845=)	PRSS12	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 1 +1 more	GBenign
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 2606544	NM_003619.4(PRSS12):c.2527G>A (p.Val843Met)	PRSS12 (V843M)	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 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 1792267	NM_003619.4(PRSS12):c.2502C>T (p.Pro834=)	PRSS12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 130047	NM_003619.4(PRSS12):c.2498G>A (p.Arg833Gln)	PRSS12 (R833Q)	Single nucleotide variant (missense variant)	Intellectual Disability, Recessive	GLikely benign
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 2480965	NM_003619.4(PRSS12):c.2492G>T (p.Cys831Phe)	PRSS12 (C831F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 632426	NM_003619.4(PRSS12):c.2488_2489del (p.Met830fs)	PRSS12 (M830fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 347392	NM_003619.4(PRSS12):c.2460C>T (p.Ser820=)	PRSS12	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 1	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 1336997	NM_003619.4(PRSS12):c.2415A>C (p.Arg805Ser)	PRSS12 (R805S)	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 3219802	NM_003619.4(PRSS12):c.2390G>A (p.Arg797His)	PRSS12 (R797H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 130046	NM_003619.4(PRSS12):c.2389C>T (p.Arg797Cys)	PRSS12 (R797C)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 436424	NM_003619.4(PRSS12):c.2376G>A (p.Arg792=)	PRSS12	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 130045	NM_003619.4(PRSS12):c.2324G>A (p.Arg775Gln)	PRSS12 (R775Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 211960	NM_003619.4(PRSS12):c.2320+6G>C	PRSS12	Single nucleotide variant (intron variant)	not specified +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 753995	NM_003619.4(PRSS12):c.2250T>C (p.Cys750=)	PRSS12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2545268	NM_003619.4(PRSS12):c.2216G>A (p.Cys739Tyr)	PRSS12 (C739Y)	Single nucleotide variant (missense variant)	not specified	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 3234204	NM_003619.4(PRSS12):c.2175T>C (p.Tyr725=)	PRSS12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2472978	NM_003619.4(PRSS12):c.2164C>T (p.Arg722Cys)	PRSS12 (R722C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 903270	NM_003619.4(PRSS12):c.2149G>C (p.Glu717Gln)	PRSS12 (E717Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 436425	NM_003619.4(PRSS12):c.2147G>A (p.Arg716Gln)	PRSS12 (R716Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 436436	NM_003619.4(PRSS12):c.2128dup (p.Gln710fs)	PRSS12 (Q710fs)	Duplication (frameshift variant)	not specified +1 more	GUncertain significance
Select item 3026235	NM_003619.4(PRSS12):c.2127T>A (p.Val709=)	PRSS12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2445956	NM_003619.4(PRSS12):c.2116G>T (p.Glu706Ter)	PRSS12 (E706*)	Single nucleotide variant (nonsense)	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 3219800	NM_003619.4(PRSS12):c.2098C>T (p.Pro700Ser)	PRSS12 (P700S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 347393	NM_003619.4(PRSS12):c.2088T>C (p.His696=)	PRSS12	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 752816	NM_003619.4(PRSS12):c.2073G>A (p.Arg691=)	PRSS12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 436426	NM_003619.4(PRSS12):c.2054C>T (p.Thr685Ile)	PRSS12 (T685I)	Single nucleotide variant (missense variant)	not specified +1 more	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 899667	NM_003619.4(PRSS12):c.2050A>G (p.Ser684Gly)	PRSS12 (S684G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	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 347394	NM_003619.4(PRSS12):c.2034C>G (p.Phe678Leu)	PRSS12 (F678L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	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 3219795	NM_003619.4(PRSS12):c.1987G>T (p.Ala663Ser)	PRSS12 (A663S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 899668	NM_003619.4(PRSS12):c.1975C>T (p.Leu659Phe)	PRSS12 (L659F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 899669	NM_003619.4(PRSS12):c.1974G>T (p.Arg658Ser)	PRSS12 (R658S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 211959	NM_003619.4(PRSS12):c.1946G>A (p.Arg649Gln)	PRSS12 (R649Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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