TULP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	HCG26, HCG27 +2581 more	Copy number gain	See cases	GPathogenic
Select item 356460	NM_003322.6(TULP1):c.*318T>G	TULP1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 15 +1 more	GBenign
Select item 356461	NM_003322.6(TULP1):c.*305G>A	TULP1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 15 +1 more	GUncertain significance
Select item 356462	NM_003322.6(TULP1):c.*278C>T	TULP1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 15 +1 more	GUncertain significance
Select item 356463	NM_003322.6(TULP1):c.*273del	TULP1	Deletion (3 prime UTR variant)	Leber congenital amaurosis +1 more	GLikely benign
Select item 905194	NM_003322.6(TULP1):c.*272C>G	TULP1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 15 +1 more	GUncertain significance
Select item 356464	NM_003322.6(TULP1):c.*268C>A	TULP1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 15 +1 more	GBenign
Select item 356465	NM_003322.6(TULP1):c.*31C>T	TULP1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 1109417	NM_003322.6(TULP1):c.1626G>A (p.Glu542=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791085	NM_003322.6(TULP1):c.1615C>T (p.Leu539=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1339036	NM_003322.6(TULP1):c.1612A>C (p.Lys538Gln)	TULP1 (K485Q +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 14	GUncertain significance
Select item 977979	NM_003322.6(TULP1):c.1612A>G (p.Lys538Glu)	TULP1 (K485E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466748	NM_003322.6(TULP1):c.1611G>T (p.Gly537=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1134398	NM_003322.6(TULP1):c.1608C>T (p.Asp536=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1053227	NM_003322.6(TULP1):c.1605C>A (p.Phe535Leu)	TULP1 (F482L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1059643	NM_003322.6(TULP1):c.1600A>G (p.Ser534Gly)	TULP1 (S481G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1297128	NM_003322.6(TULP1):c.1597T>C (p.Ser533Pro)	TULP1 (S480P +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 2912219	NM_003322.6(TULP1):c.1593C>A (p.Ala531=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 969183	NM_003322.6(TULP1):c.1591G>A (p.Ala531Thr)	TULP1 (A531T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1535571	NM_003322.6(TULP1):c.1590C>T (p.Ile530=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 30263	NM_003322.6(TULP1):c.1582_1587dup (p.Ala529_Ile530insPheAla)	TULP1	Duplication (inframe_insertion)	Leber congenital amaurosis 15	GPathogenic
Select item 2765079	NM_003322.6(TULP1):c.1584C>T (p.Phe528=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 865996	NM_003322.6(TULP1):c.1581del (p.Phe528fs)	TULP1 (F475fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 1615639	NM_003322.6(TULP1):c.1575G>C (p.Leu525=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722989	NM_003322.6(TULP1):c.1573C>T (p.Leu525=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2037722	NM_003322.6(TULP1):c.1572C>G (p.Ala524=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 287616	NM_003322.6(TULP1):c.1570G>A (p.Ala524Thr)	TULP1 (A524T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1478422	NM_003322.6(TULP1):c.1569C>A (p.Cys523Ter)	TULP1 (C470* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 905195	NM_003322.6(TULP1):c.1569C>T (p.Cys523=)	TULP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2125511	NM_003322.6(TULP1):c.1568G>A (p.Cys523Tyr)	TULP1 (C470Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1392591	NM_003322.6(TULP1):c.1564C>T (p.Leu522=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 906794	NM_003322.6(TULP1):c.1563G>A (p.Pro521=)	TULP1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 2818481	NM_003322.6(TULP1):c.1562C>T (p.Pro521Leu)	TULP1 (P521L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2166200	NM_003322.6(TULP1):c.1561C>A (p.Pro521Thr)	TULP1 (P468T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1977826	NM_003322.6(TULP1):c.1560C>G (p.Tyr520Ter)	TULP1 (Y467* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 802207	NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter)	TULP1 (Y467* +1 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 1 +1 more	GPathogenic
Select item 2796777	NM_003322.6(TULP1):c.1557G>C (p.Arg519=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1065757	NM_003322.6(TULP1):c.1553_1556dup (p.Tyr520fs)	TULP1 (Y467fs +1 more)	Duplication (frameshift variant)	Retinitis pigmentosa 14	GLikely pathogenic
Select item 2126758	NM_003322.6(TULP1):c.1555C>T (p.Arg519Trp)	TULP1 (R519W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722145	NM_003322.6(TULP1):c.1554C>T (p.Tyr518=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1428780	NM_003322.6(TULP1):c.1549G>C (p.Asp517His)	TULP1 (D464H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717172	NM_003322.6(TULP1):c.1548A>C (p.Leu516=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1045659	NM_003322.6(TULP1):c.1535A>G (p.Asp512Gly)	TULP1 (D459G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1542327	NM_003322.6(TULP1):c.1533G>A (p.Glu511=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1057845	NM_003322.6(TULP1):c.1530G>A (p.Ala510=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1314505	NM_003322.6(TULP1):c.1528G>A (p.Ala510Thr)	TULP1 (A457T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809926	NM_003322.6(TULP1):c.1526T>C (p.Val509Ala)	TULP1 (V509A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 813101	NM_003322.6(TULP1):c.1523G>A (p.Arg508His)	TULP1 (R508H +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 1352501	NM_003322.6(TULP1):c.1522C>A (p.Arg508Ser)	TULP1 (R455S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 977978	NM_003322.6(TULP1):c.1522C>T (p.Arg508Cys)	TULP1 (R455C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 7364	NM_003322.6(TULP1):c.1511_1521del (p.Leu504fs)	TULP1 (L451fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1379660	NM_003322.6(TULP1):c.1520G>T (p.Gly507Val)	TULP1 (G454V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1053291	NM_003322.6(TULP1):c.1519G>A (p.Gly507Ser)	TULP1 (G454S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438445	NM_003322.6(TULP1):c.1518C>A (p.Phe506Leu)	TULP1 (F453L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 772577	NM_003322.6(TULP1):c.1518C>T (p.Phe506=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1472762	NM_003322.6(TULP1):c.1513C>T (p.Gln505Ter)	TULP1 (Q452* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1149256	NM_003322.6(TULP1):c.1512G>A (p.Leu504=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1481732	NM_003322.6(TULP1):c.1507G>T (p.Val503Leu)	TULP1 (V503L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1408515	NM_003322.6(TULP1):c.1504A>T (p.Ile502Phe)	TULP1 (I449F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2153205	NM_003322.6(TULP1):c.1503T>C (p.Tyr501=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1421923	NM_003322.6(TULP1):c.1502A>T (p.Tyr501Phe)	TULP1 (Y501F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839951	NM_003322.6(TULP1):c.1500C>T (p.Asp500=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1547175	NM_003322.6(TULP1):c.1497C>T (p.Pro499=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982678	NM_003322.6(TULP1):c.1496-1G>C	TULP1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2840293	NM_003322.6(TULP1):c.1496-4A>G	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2719183	NM_003322.6(TULP1):c.1496-5C>T	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 99666	NM_003322.6(TULP1):c.1496-6C>A	TULP1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 14 +5 more	GPathogenic/Likely pathogenic
Select item 1107174	NM_003322.6(TULP1):c.1496-8G>A	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 866721	NM_003322.6(TULP1):c.1496-11T>G	TULP1	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 2772092	NM_003322.6(TULP1):c.1496-14T>C	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1606120	NM_003322.6(TULP1):c.1496-15G>A	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2012203	NM_003322.6(TULP1):c.1496-17C>A	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2717795	NM_003322.6(TULP1):c.1496-18C>T	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831243	NM_003322.6(TULP1):c.1496-20A>T	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804921	NM_003322.6(TULP1):c.1496-20del	TULP1	Deletion (intron variant)	not provided	GLikely benign
Select item 2759194	NM_003322.6(TULP1):c.1495+20G>C	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1577813	NM_003322.6(TULP1):c.1495+20G>A	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014004	NM_003322.6(TULP1):c.1495+17C>T	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 636207	NM_003322.6(TULP1):c.1495+6T>C	TULP1	Single nucleotide variant (intron variant)	Retinitis pigmentosa	GUncertain significance
Select item 906795	NM_003322.6(TULP1):c.1495+3G>A	TULP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 15 +2 more	GUncertain significance
Select item 812437	NM_003322.6(TULP1):c.1495+2dup	TULP1	Duplication (splice donor variant)	not provided	GPathogenic
Select item 99665	NM_003322.6(TULP1):c.1495+1G>A	TULP1	Single nucleotide variant (splice donor variant)	Retinal dystrophy +3 more	GPathogenic
Select item 852608	NM_003322.6(TULP1):c.1495C>T (p.Pro499Ser)	TULP1 (P446S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2797733	NM_003322.6(TULP1):c.1488T>G (p.Ala496=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1062420	NM_003322.6(TULP1):c.1487C>T (p.Ala496Val)	TULP1 (A443V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 99664	NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr)	TULP1 (A496T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1554046	NM_003322.6(TULP1):c.1485C>T (p.His495=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 865878	NM_003322.6(TULP1):c.1476G>C (p.Gln492His)	TULP1 (Q492H +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3064522	NM_003322.6(TULP1):c.1475A>G (p.Gln492Arg)	TULP1 (Q439R +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 15	GUncertain significance
Select item 7358	NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu)	TEAD3, TULP1 (F491L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 99663	NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg)	TULP1 (K489R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2760788	NM_003322.6(TULP1):c.1461A>G (p.Ser487=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1950198	NM_003322.6(TULP1):c.1453_1460del (p.Gln485fs)	TULP1 (Q432fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2789685	NM_003322.6(TULP1):c.1458C>T (p.Ala486=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3027731	NM_003322.6(TULP1):c.1457C>A (p.Ala486Asp)	TULP1 (A433D +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1409684	NM_003322.6(TULP1):c.1430_1453del (p.Leu477_Thr484del)	TULP1	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 866966	NM_003322.6(TULP1):c.1447G>A (p.Val483Ile)	TULP1 (V430I +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 977980	NM_003322.6(TULP1):c.1445G>A (p.Arg482Gln)	TULP1 (R429Q +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 14 +1 more	GPathogenic
Select item 7363	NM_003322.6(TULP1):c.1444C>T (p.Arg482Trp)	TULP1 (R482W +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2124777	NM_003322.6(TULP1):c.1443C>G (p.Gly481=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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