ClinVar for OMIM (Select 249500) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 +1 more	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 1676513	NM_003619.4(PRSS12):c.441_442del (p.Trp148fs)	PRSS12 (W148fs)	Deletion	Intellectual disability, autosomal recessive 1	GLikely pathogenic
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 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)	PRSS12-related disorder +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)	not specified +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 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
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 900824	NM_003619.4(PRSS12):c.-10C>T	PRSS12	Single nucleotide variant (5 prime UTR variant)	Intellectual disability, autosomal recessive 1	GLikely benign
Select item 900746	NM_003619.4(PRSS12):c.1293-10A>G	PRSS12	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 900745	NM_003619.4(PRSS12):c.1381A>G (p.Arg461Gly)	PRSS12 (R461G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 900744	NM_003619.4(PRSS12):c.1490-15T>C	PRSS12	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 900743	NM_003619.4(PRSS12):c.1722G>A (p.Arg574=)	PRSS12	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 1	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 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 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 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 899735	NM_003619.4(PRSS12):c.177G>A (p.Pro59=)	PRSS12	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 899734	NM_003619.4(PRSS12):c.195C>T (p.Phe65=)	PRSS12	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 899733	NM_003619.4(PRSS12):c.274G>C (p.Gly92Arg)	PRSS12 (G92R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 899732	NM_003619.4(PRSS12):c.365C>T (p.Ser122Leu)	PRSS12 (S122L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 899672	NM_003619.4(PRSS12):c.1903A>G (p.Lys635Glu)	PRSS12 (K635E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 899671	NM_003619.4(PRSS12):c.1916+11C>T	PRSS12	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 899670	NM_003619.4(PRSS12):c.1917-4T>C	PRSS12	Single nucleotide variant (intron 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 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 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 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 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 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 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 899598	NM_003619.4(PRSS12):c.*912G>A	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GBenign
Select item 786046	NM_003619.4(PRSS12):c.440C>T (p.Pro147Leu)	PRSS12 (P147L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1 +1 more	GBenign/Likely benign
Select item 736046	NM_003619.4(PRSS12):c.966C>T (p.Gly322=)	PRSS12	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 1 +1 more	GConflicting classifications of pathogenicity
Select item 720348	NM_003619.4(PRSS12):c.645A>G (p.Gly215=)	PRSS12	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 1 +1 more	GBenign/Likely benign
Select item 719126	NM_003619.4(PRSS12):c.1144C>T (p.Leu382=)	PRSS12	Single nucleotide variant (synonymous variant)	PRSS12-related disorder +2 more	GBenign
Select item 634474	NM_003619.4(PRSS12):c.1879C>T (p.Arg627Trp)	PRSS12 (R627W)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 632429	NM_003619.4(PRSS12):c.781C>T (p.Gln261Ter)	PRSS12 (Q261*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 632428	NM_003619.4(PRSS12):c.1395T>A (p.Cys465Ter)	PRSS12 (C465*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 632427	NM_003619.4(PRSS12):c.1837+1G>A	PRSS12	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal recessive 1	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 445857	NM_003619.4(PRSS12):c.28C>G (p.Leu10Val)	PRSS12 (L10V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 440998	NM_003619.4(PRSS12):c.37G>A (p.Gly13Arg)	PRSS12 (G13R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1 +1 more	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 436431	NM_003619.4(PRSS12):c.936C>T (p.Ala312=)	PRSS12	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 347404	NM_003619.4(PRSS12):c.315C>T (p.Phe105=)	PRSS12	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 347403	NM_003619.4(PRSS12):c.480G>C (p.Trp160Cys)	PRSS12 (W160C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 347402	NM_003619.4(PRSS12):c.511C>T (p.Arg171Ter)	PRSS12 (R171*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 347401	NM_003619.4(PRSS12):c.669G>A (p.Pro223=)	PRSS12	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 347399	NM_003619.4(PRSS12):c.1277G>A (p.Arg426Gln)	PRSS12 (R426Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 347398	NM_003619.4(PRSS12):c.1512T>C (p.Asp504=)	PRSS12	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 347397	NM_003619.4(PRSS12):c.1640C>A (p.Ala547Asp)	PRSS12 (A547D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1 +1 more	GUncertain significance
Select item 347396	NM_003619.4(PRSS12):c.1773C>T (p.His591=)	PRSS12	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 347395	NM_003619.4(PRSS12):c.1788A>T (p.Gly596=)	PRSS12	Single nucleotide variant (synonymous 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 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 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 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 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 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 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 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 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 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 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 347380	NM_003619.4(PRSS12):c.*672C>T	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GBenign
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 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 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 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 347375	NM_003619.4(PRSS12):c.*920G>C	PRSS12	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal recessive 1	GUncertain significance

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