"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PRPF4"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 143058	NC_000009.12:g.113275630TGTCAGTGACGCACTTCC[1]	PRPF4	Microsatellite	not provided +1 more	GUncertain significance
Select item 2784359	NC_000009.12:g.113275634A>G	PRPF4	Single nucleotide variant	not provided	GUncertain significance
Select item 2785060	NC_000009.12:g.113275646C>T	PRPF4	Single nucleotide variant	not provided	GUncertain significance
Select item 999774	NC_000009.12:g.113275652A>G	PRPF4	Single nucleotide variant	not provided	GLikely benign
Select item 1483463	NC_000009.12:g.113275654T>C	PRPF4	Single nucleotide variant	not provided	GUncertain significance
Select item 1460817	NC_000009.12:g.113275656A>T	PRPF4	Single nucleotide variant	not provided	GUncertain significance
Select item 1474851	NC_000009.12:g.113275657C>T	PRPF4	Single nucleotide variant	not provided	GUncertain significance
Select item 2036222	NM_001244926.2(PRPF4):c.-83C>G	PRPF4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1059544	NM_001244926.2(PRPF4):c.4G>A (p.Ala2Thr)	PRPF4 (A2T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 933299	NM_001244926.2(PRPF4):c.8C>T (p.Ser3Phe)	PRPF4 (S3F)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2110008	NM_001244926.2(PRPF4):c.17C>T (p.Ala6Val)	PRPF4 (A6V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1167335	NM_001244926.2(PRPF4):c.18C>G (p.Ala6=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1407386	NM_001244926.2(PRPF4):c.25A>G (p.Thr9Ala)	PRPF4 (T9A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1124482	NM_001244926.2(PRPF4):c.27+8G>T	PRPF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920245	NM_001244926.2(PRPF4):c.27+12G>A	PRPF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1118950	NM_001244926.2(PRPF4):c.27+17C>T	PRPF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1531366	NM_001244926.2(PRPF4):c.28-22A>T	PRPF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2124380	NM_001244926.2(PRPF4):c.28-21T>A	PRPF4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1554080	NM_001244926.2(PRPF4):c.28-19C>T	PRPF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2124418	NM_001244926.2(PRPF4):c.28-11T>G	PRPF4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1352654	NM_001244926.2(PRPF4):c.28-9A>G	PRPF4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2035599	NM_001244926.2(PRPF4):c.28-4G>C	PRPF4	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 1443983	NM_001244926.2(PRPF4):c.31A>T (p.Thr11Ser)	PRPF4 (T11S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 844172	NM_001244926.2(PRPF4):c.49G>A (p.Asp17Asn)	PRPF4 (D17N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1161172	NM_001244926.2(PRPF4):c.51C>T (p.Asp17=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2192734	NM_001244926.2(PRPF4):c.65C>T (p.Pro22Leu)	PRPF4 (P22L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1983324	NM_001244926.2(PRPF4):c.72G>A (p.Val24=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1542341	NM_001244926.2(PRPF4):c.78A>G (p.Lys26=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1491304	NM_001244926.2(PRPF4):c.85A>C (p.Ile29Leu)	PRPF4 (I30L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1639831	NM_001244926.2(PRPF4):c.87C>T (p.Ile29=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1569022	NM_001244926.2(PRPF4):c.93T>C (p.Tyr31=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2864265	NM_001244926.2(PRPF4):c.108G>A (p.Glu36=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1645725	NM_001244926.2(PRPF4):c.111G>A (p.Lys37=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1345736	NM_001244926.2(PRPF4):c.116G>A (p.Arg39Lys)	PRPF4 (R39K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1362296	NM_001244926.2(PRPF4):c.119A>G (p.Glu40Gly)	PRPF4 (E40G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1130387	NM_001244926.2(PRPF4):c.120G>A (p.Glu40=)	PRPF4	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2997197	NM_001244926.2(PRPF4):c.143G>C (p.Gly48Ala)	PRPF4 (G49A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2886024	NM_001244926.2(PRPF4):c.148T>C (p.Leu50=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1930131	NM_001244926.2(PRPF4):c.150G>A (p.Leu50=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1147795	NM_001244926.2(PRPF4):c.159C>T (p.Asp53=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 938112	NM_001244926.2(PRPF4):c.160G>A (p.Gly54Arg)	PRPF4 (G55R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1081020	NM_001244926.2(PRPF4):c.171A>G (p.Ala57=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2966540	NM_001244926.2(PRPF4):c.191T>C (p.Ile64Thr)	PRPF4 (I64T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1506632	NM_001244926.2(PRPF4):c.194A>G (p.Asn65Ser)	PRPF4 (N65S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2132420	NM_001244926.2(PRPF4):c.196A>G (p.Ile66Val)	PRPF4 (I67V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2020954	NM_001244926.2(PRPF4):c.205+4A>G	PRPF4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1169006	NM_001244926.2(PRPF4):c.205+14T>C	PRPF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1959419	NM_001244926.2(PRPF4):c.205+17G>C	PRPF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1533646	NM_001244926.2(PRPF4):c.205+20C>T	PRPF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901535	NM_001244926.2(PRPF4):c.206-3T>C	PRPF4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1390159	NM_001244926.2(PRPF4):c.220_225del (p.Ile74_Glu75del)	PRPF4	Deletion (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 2006210	NM_001244926.2(PRPF4):c.219A>G (p.Glu73=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 788648	NM_001244926.2(PRPF4):c.230A>G (p.His77Arg)	PRPF4 (H77R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1903696	NM_001244926.2(PRPF4):c.237C>T (p.Ser79=)	PRPF4	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1965319	NM_001244926.2(PRPF4):c.238G>A (p.Glu80Lys)	PRPF4 (E80K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 964682	NM_001244926.2(PRPF4):c.238G>C (p.Glu80Gln)	PRPF4 (E80Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2000594	NM_001244926.2(PRPF4):c.241C>A (p.Arg81=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1671133	NM_001244926.2(PRPF4):c.276G>A (p.Arg92=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1656095	NM_001244926.2(PRPF4):c.280C>A (p.Arg94=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1040623	NM_001244926.2(PRPF4):c.296A>G (p.Asn99Ser)	PRPF4 (N99S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 728471	NM_001244926.2(PRPF4):c.297T>C (p.Asn99=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2987653	NM_001244926.2(PRPF4):c.330C>T (p.Cys110=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1348636	NM_001244926.2(PRPF4):c.343G>T (p.Gly115Trp)	PRPF4 (G116W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 759693	NM_001244926.2(PRPF4):c.363T>C (p.Phe121=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1521001	NM_001244926.2(PRPF4):c.392+6C>T	PRPF4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1129642	NM_001244926.2(PRPF4):c.392+7T>A	PRPF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674073	NM_001244926.2(PRPF4):c.392+16A>G	PRPF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2098094	NM_001244926.2(PRPF4):c.392+20A>G	PRPF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674134	NM_001244926.2(PRPF4):c.393-12T>C	PRPF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636078	NM_001244926.2(PRPF4):c.393-10T>A	PRPF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638895	NM_001244926.2(PRPF4):c.393-6T>A	PRPF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972648	NM_001244926.2(PRPF4):c.393-5A>T	PRPF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2127160	NM_001244926.2(PRPF4):c.393-5A>G	PRPF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2055947	NM_001244926.2(PRPF4):c.393G>A (p.Arg131=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2809927	NM_001244926.2(PRPF4):c.409T>C (p.Ser137Pro)	PRPF4 (S137P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1554047	NM_001244926.2(PRPF4):c.411A>G (p.Ser137=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1170602	NM_001244926.2(PRPF4):c.417C>G (p.Val139=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1164910	NM_001244926.2(PRPF4):c.417C>T (p.Val139=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2052269	NM_001244926.2(PRPF4):c.418G>A (p.Gly140Ser)	PRPF4 (G141S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1578494	NM_001244926.2(PRPF4):c.429C>G (p.Ala143=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2005711	NM_001244926.2(PRPF4):c.434A>G (p.Lys145Arg)	PRPF4 (K145R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2027163	NM_001244926.2(PRPF4):c.435A>G (p.Lys145=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2134431	NM_001244926.2(PRPF4):c.456G>A (p.Glu152=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 967637	NM_001244926.2(PRPF4):c.460T>C (p.Ser154Pro)	PRPF4 (S154P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1165174	NM_001244926.2(PRPF4):c.465A>G (p.Lys155=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2914540	NM_001244926.2(PRPF4):c.469T>G (p.Ser157Ala)	PRPF4 (S157A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 959416	NM_001244926.2(PRPF4):c.474A>C (p.Lys158Asn)	PRPF4 (K158N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2857472	NM_001244926.2(PRPF4):c.480+19T>G	PRPF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640455	NM_001244926.2(PRPF4):c.480+19T>C	PRPF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2114567	NM_001244926.2(PRPF4):c.481-20G>T	PRPF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632262	NM_001244926.2(PRPF4):c.481-18T>C	PRPF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 849605	NM_001244926.2(PRPF4):c.481-2A>G	PRPF4	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1371087	NM_001244926.2(PRPF4):c.485A>G (p.Gln162Arg)	PRPF4 (Q162R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1393649	NM_001244926.2(PRPF4):c.489A>G (p.Gln163=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2982974	NM_001244926.2(PRPF4):c.490A>G (p.Thr164Ala)	PRPF4 (T164A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1079492	NM_001244926.2(PRPF4):c.501T>C (p.His167=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1597235	NM_001244926.2(PRPF4):c.534A>G (p.Leu178=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1494773	NM_001244926.2(PRPF4):c.540T>G (p.Ile180Met)	PRPF4 (I180M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2958870	NM_001244926.2(PRPF4):c.542C>G (p.Ala181Gly)	PRPF4 (A181G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2182933	NM_001244926.2(PRPF4):c.546T>C (p.Asn182=)	PRPF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign

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