9129[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 57468	GRCh38/hg38 1q21.2(chr1:150034379-150414215)x1	ANP32E, APH1A +35 more	Copy number loss	See cases	GUncertain significance
Select item 149773	GRCh38/hg38 1q21.2(chr1:150214843-150565007)x3	ADAMTSL4, ADAMTSL4-AS1 +37 more	Copy number gain	See cases	GLikely benign
Select item 292492	NM_004698.3(PRPF3):c.-149_-147CGG[4]	PRPF3	Microsatellite (5 prime UTR variant +1 more)	Retinitis Pigmentosa, Dominant	GUncertain significance
Select item 292493	NM_004698.3(PRPF3):c.-139G>A	PRPF3	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis Pigmentosa, Dominant	GUncertain significance
Select item 292494	NM_004698.3(PRPF3):c.-133A>G	PRPF3	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis Pigmentosa, Dominant	GLikely benign
Select item 292495	NM_004698.3(PRPF3):c.-118T>C	PRPF3	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis Pigmentosa, Dominant	GUncertain significance
Select item 875175	NM_004698.4(PRPF3):c.-80C>T	PRPF3	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 1224950	NM_004698.4(PRPF3):c.-48-116C>A	PRPF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266369	NM_004698.4(PRPF3):c.-48-108T>C	PRPF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178706	NM_004698.4(PRPF3):c.-48-5_-48-3dup	PRPF3	Duplication (intron variant)	not provided	GBenign
Select item 801541	NM_004698.4(PRPF3):c.-48-2A>T	PRPF3	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 18	GUncertain significance
Select item 1348835	NM_004698.4(PRPF3):c.11C>T (p.Ser4Leu)	PRPF3 (S4L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2060845	NM_004698.4(PRPF3):c.43A>G (p.Ile15Val)	PRPF3 (I15V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1097453	NM_004698.4(PRPF3):c.48G>A (p.Glu16=)	PRPF3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2420978	NM_004698.4(PRPF3):c.87G>A (p.Thr29=)	PRPF3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1122865	NM_004698.4(PRPF3):c.102A>T (p.Ala34=)	PRPF3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1572826	NM_004698.4(PRPF3):c.108C>T (p.Asn36=)	PRPF3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1056185	NM_004698.4(PRPF3):c.123C>T (p.Gly41=)	PRPF3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2818746	NM_004698.4(PRPF3):c.127G>A (p.Asp43Asn)	PRPF3 (D43N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 839137	NM_004698.4(PRPF3):c.128A>G (p.Asp43Gly)	PRPF3 (D43G)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 956951	NM_004698.4(PRPF3):c.144C>T (p.Ala48=)	PRPF3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1963712	NM_004698.4(PRPF3):c.145+4T>A	PRPF3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1515163	NM_004698.4(PRPF3):c.145+6T>C	PRPF3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1671017	NM_004698.4(PRPF3):c.145+12del	PRPF3	Deletion (intron variant)	not provided	GLikely benign
Select item 1271800	NM_004698.4(PRPF3):c.146-194C>T	PRPF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2012598	NM_004698.4(PRPF3):c.146-20A>G	PRPF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930773	NM_004698.4(PRPF3):c.146-18C>T	PRPF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165123	NM_004698.4(PRPF3):c.146-17G>A	PRPF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1618690	NM_004698.4(PRPF3):c.146-7del	PRPF3	Deletion (intron variant)	not provided	GLikely benign
Select item 1964648	NM_004698.4(PRPF3):c.146-5G>T	PRPF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2015141	NM_004698.4(PRPF3):c.182G>C (p.Arg61Pro)	PRPF3 (R61P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1906028	NM_004698.4(PRPF3):c.182G>A (p.Arg61Gln)	PRPF3 (R61Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2063290	NM_004698.4(PRPF3):c.204G>C (p.Glu68Asp)	PRPF3 (E68D)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1483871	NM_004698.4(PRPF3):c.235T>G (p.Ser79Ala)	PRPF3 (S79A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1108074	NM_004698.4(PRPF3):c.243T>C (p.Ser81=)	PRPF3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 839654	NM_004698.4(PRPF3):c.247A>G (p.Ser83Gly)	PRPF3 (S83G)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1002166	NM_004698.4(PRPF3):c.266G>A (p.Arg89Gln)	PRPF3 (R89Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1944638	NM_004698.4(PRPF3):c.267A>G (p.Arg89=)	PRPF3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2805662	NM_004698.4(PRPF3):c.276+10A>G	PRPF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1530134	NM_004698.4(PRPF3):c.276+12T>C	PRPF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1548421	NM_004698.4(PRPF3):c.276+14T>C	PRPF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233667	NM_004698.4(PRPF3):c.277-52=	PRPF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1942409	NM_004698.4(PRPF3):c.277-5C>T	PRPF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798911	NM_004698.4(PRPF3):c.292G>A (p.Asp98Asn)	PRPF3 (D98N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2758916	NM_004698.4(PRPF3):c.298G>C (p.Glu100Gln)	PRPF3 (E100Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2007260	NM_004698.4(PRPF3):c.335G>A (p.Arg112Gln)	PRPF3 (R112Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1954171	NM_004698.4(PRPF3):c.344G>A (p.Arg115His)	PRPF3 (R115H)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1349167	NM_004698.4(PRPF3):c.366G>C (p.Glu122Asp)	PRPF3 (E122D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1993038	NM_004698.4(PRPF3):c.367C>A (p.Pro123Thr)	PRPF3 (P123T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 292496	NM_004698.4(PRPF3):c.378C>T (p.Ile126=)	PRPF3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 1547620	NM_004698.4(PRPF3):c.390A>G (p.Pro130=)	PRPF3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1091182	NM_004698.4(PRPF3):c.390A>C (p.Pro130=)	PRPF3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1910222	NM_004698.4(PRPF3):c.399C>T (p.Ser133=)	PRPF3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1149271	NM_004698.4(PRPF3):c.405C>A (p.Gly135=)	PRPF3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2814475	NM_004698.4(PRPF3):c.414T>C (p.Thr138=)	PRPF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1993865	NM_004698.4(PRPF3):c.423+7G>A	PRPF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242903	NM_004698.4(PRPF3):c.423+102_423+103dup	PRPF3	Duplication (intron variant)	not provided	GBenign
Select item 1227178	NM_004698.4(PRPF3):c.423+101_423+103dup	PRPF3	Duplication (intron variant)	not provided	GBenign
Select item 1961246	NM_004698.4(PRPF3):c.424-20A>G	PRPF3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1550282	NM_004698.4(PRPF3):c.424-11del	PRPF3	Deletion (intron variant)	not provided	GLikely benign
Select item 1673190	NM_004698.4(PRPF3):c.444A>G (p.Ala148=)	PRPF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1530502	NM_004698.4(PRPF3):c.459C>T (p.Ile153=)	PRPF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2132774	NM_004698.4(PRPF3):c.462G>A (p.Glu154=)	PRPF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1088345	NM_004698.4(PRPF3):c.471A>G (p.Lys157=)	PRPF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2128626	NM_004698.4(PRPF3):c.483C>T (p.Ser161=)	PRPF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3008207	NM_004698.4(PRPF3):c.487A>G (p.Ile163Val)	PRPF3 (I163V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3028173	NM_004698.4(PRPF3):c.493C>G (p.Pro165Ala)	PRPF3 (P165A +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 1057062	NM_004698.4(PRPF3):c.493C>T (p.Pro165Ser)	PRPF3 (P165S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3028175	NM_004698.4(PRPF3):c.497C>G (p.Pro166Arg)	PRPF3 (P166R +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 722572	NM_004698.4(PRPF3):c.498T>A (p.Pro166=)	PRPF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2970154	NM_004698.4(PRPF3):c.499A>G (p.Thr167Ala)	PRPF3 (T167A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 930598	NM_004698.4(PRPF3):c.500C>T (p.Thr167Ile)	PRPF3 (T167I +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 18	GUncertain significance
Select item 197766	NM_004698.4(PRPF3):c.501A>G (p.Thr167=)	PRPF3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2111217	NM_004698.4(PRPF3):c.507+12A>G	PRPF3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 932134	NM_004698.4(PRPF3):c.508-13C>G	PRPF3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1537456	NM_004698.4(PRPF3):c.508-10T>A	PRPF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1158106	NM_004698.4(PRPF3):c.508-9A>G	PRPF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1157614	NM_004698.4(PRPF3):c.508-9A>T	PRPF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1567452	NM_004698.4(PRPF3):c.508-7C>T	PRPF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827048	NM_004698.4(PRPF3):c.518C>T (p.Pro173Leu)	PRPF3 (P173L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 953676	NM_004698.4(PRPF3):c.520T>C (p.Ser174Pro)	PRPF3 (S39P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1656503	NM_004698.4(PRPF3):c.534A>G (p.Pro178=)	PRPF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1113272	NM_004698.4(PRPF3):c.537A>G (p.Glu179=)	PRPF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1038420	NM_004698.4(PRPF3):c.539G>A (p.Arg180Gln)	PRPF3 (R180Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1997716	NM_004698.4(PRPF3):c.544C>T (p.Pro182Ser)	PRPF3 (P182S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2016027	NM_004698.4(PRPF3):c.591dup (p.Asp198Ter)	PRPF3 (D63* +1 more)	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 1047084	NM_004698.4(PRPF3):c.601G>A (p.Glu201Lys)	PRPF3 (E201K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2995396	NM_004698.4(PRPF3):c.627G>A (p.Leu209=)	PRPF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1501029	NM_004698.4(PRPF3):c.665G>A (p.Gly222Glu)	PRPF3 (G222E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1656874	NM_004698.4(PRPF3):c.672C>T (p.Ile224=)	PRPF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1524947	NM_004698.4(PRPF3):c.673G>A (p.Gly225Ser)	PRPF3 (G225S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1020573	NM_004698.4(PRPF3):c.677A>G (p.Asn226Ser)	PRPF3 (N226S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1942874	NM_004698.4(PRPF3):c.705C>T (p.Leu235=)	PRPF3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1966523	NM_004698.4(PRPF3):c.714G>A (p.Met238Ile)	PRPF3 (M103I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1552438	NM_004698.4(PRPF3):c.723T>C (p.Ala241=)	PRPF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2982491	NM_004698.4(PRPF3):c.728C>T (p.Pro243Leu)	PRPF3 (P108L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1664037	NM_004698.4(PRPF3):c.728+16A>G	PRPF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278208	NM_004698.4(PRPF3):c.728+193=	PRPF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260919	NM_004698.4(PRPF3):c.729-136=	PRPF3	Single nucleotide variant (intron variant)	not provided	GBenign

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