ClinVar for MedGen (Select 462556) - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065889	NM_003322.6(TULP1):c.283C>T (p.Pro95Ser)	TULP1 (P95S)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 15	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 3064521	NM_003322.6(TULP1):c.1135T>C (p.Phe379Leu)	TULP1 (F326L +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 15	GUncertain significance
Select item 1675201	NM_003322.6(TULP1):c.790C>T (p.Gln264Ter)	TULP1 (Q211* +1 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis +1 more	GPathogenic
Select item 1526153	NM_003322.6(TULP1):c.999+5G>A	TULP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 15	GUncertain significance
Select item 1290548	NM_003322.6(TULP1):c.499+26C>T	TULP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 15 +2 more	GBenign
Select item 1170073	NM_003322.6(TULP1):c.823-17G>C	TULP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 15 +2 more	GBenign
Select item 1032121	NM_003322.6(TULP1):c.457G>A (p.Ala153Thr)	TULP1 (A100T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 987369	NM_003322.6(TULP1):c.568G>T (p.Glu190Ter)	TULP1 (E137* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 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 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 977977	NM_003322.6(TULP1):c.1204G>A (p.Glu402Lys)	TULP1 (E349K +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 15	GLikely pathogenic
Select item 977976	NM_003322.6(TULP1):c.1081del (p.Arg361fs)	TULP1 (R308fs +1 more)	Deletion (frameshift variant)	Leber congenital amaurosis 15	GPathogenic
Select item 977975	NM_003322.6(TULP1):c.148del (p.Glu50fs)	TULP1 (E50fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 932141	NM_003322.6(TULP1):c.139G>T (p.Glu47Ter)	TULP1 (E47*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 15	GLikely pathogenic
Select item 931832	NM_003322.6(TULP1):c.1112+2T>G	TULP1	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 15	GPathogenic
Select item 930508	NM_003322.6(TULP1):c.1025G>A (p.Arg342Gln)	TULP1 (R289Q +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 15 +1 more	GConflicting classifications of pathogenicity
Select item 930507	NM_003322.6(TULP1):c.1258C>T (p.Arg420Cys)	TULP1 (R367C +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 15	GLikely pathogenic
Select item 907781	NM_003322.6(TULP1):c.904G>A (p.Gly302Ser)	TULP1 (G249S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 907780	NM_003322.6(TULP1):c.1112+8T>C	TULP1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 907779	NM_003322.6(TULP1):c.1152C>T (p.Asn384=)	TULP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 907778	NM_003322.6(TULP1):c.1169G>A (p.Arg390His)	TULP1 (R390H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 906838	NM_003322.6(TULP1):c.647C>T (p.Ala216Val)	TULP1 (A216V +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 15 +2 more	GUncertain significance
Select item 906837	NM_003322.6(TULP1):c.682G>A (p.Glu228Lys)	TULP1 (E175K +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 15 +1 more	GUncertain significance
Select item 906836	NM_003322.6(TULP1):c.719G>A (p.Gly240Asp)	TULP1 (G240D +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 15 +2 more	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 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 905305	NM_003322.6(TULP1):c.224C>T (p.Ser75Phe)	TULP1 (S75F)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 15 +1 more	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 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 904521	NM_003322.6(TULP1):c.541G>C (p.Val181Leu)	TULP1 (V128L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 904455	NM_003322.6(TULP1):c.901C>G (p.Gln301Glu)	TULP1 (Q248E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 867084	NM_003322.6(TULP1):c.100C>T (p.Arg34Ter)	TULP1 (R34*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 866967	NM_003322.6(TULP1):c.1318C>T (p.Arg440Ter)	TULP1 (R387* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 852847	NM_003322.6(TULP1):c.1199G>A (p.Arg400Gln)	TULP1 (R400Q +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 844244	NM_003322.6(TULP1):c.296A>G (p.Lys99Arg)	TULP1 (K99R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 829968	NM_003322.6(TULP1):c.794del (p.Lys265fs)	TULP1 (K265fs +1 more)	Deletion (frameshift variant)	Leber congenital amaurosis 15	GPathogenic
Select item 828151	NM_003322.6(TULP1):c.901C>T (p.Gln301Ter)	TULP1 (Q248* +1 more)	Single nucleotide variant (nonsense)	Abnormality of the eye +3 more	GPathogenic
Select item 779846	NM_003322.6(TULP1):c.603G>A (p.Gly201=)	TULP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 772987	NM_003322.6(TULP1):c.771G>A (p.Thr257=)	TULP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 15 +3 more	GConflicting classifications of pathogenicity
Select item 767114	NM_003322.6(TULP1):c.823-4A>G	TULP1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 450005	NM_003322.6(TULP1):c.1024C>T (p.Arg342Ter)	TULP1 (R342* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 356477	NM_003322.6(TULP1):c.26G>A (p.Arg9Gln)	TULP1 (R9Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 15 +1 more	GUncertain significance
Select item 356476	NM_003322.6(TULP1):c.85C>T (p.Arg29Trp)	TULP1 (R29W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 15 +1 more	GUncertain significance
Select item 356475	NM_003322.6(TULP1):c.192T>C (p.Ala64=)	TULP1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 15 +1 more	GUncertain significance
Select item 356474	NM_003322.6(TULP1):c.249G>A (p.Ala83=)	TULP1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 15 +2 more	GConflicting classifications of pathogenicity
Select item 356473	NM_003322.6(TULP1):c.254A>G (p.Gln85Arg)	TULP1 (Q85R)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 15 +2 more	GUncertain significance
Select item 356472	NM_003322.6(TULP1):c.477G>C (p.Arg159Ser)	TULP1 (R159S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 356471	NM_003322.6(TULP1):c.499+12G>C	TULP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 15 +2 more	GConflicting classifications of pathogenicity
Select item 356470	NM_003322.6(TULP1):c.544A>G (p.Arg182Gly)	TULP1 (R182G +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 356469	NM_003322.6(TULP1):c.559C>T (p.Pro187Ser)	TULP1 (P187S +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 15 +1 more	GUncertain significance
Select item 356468	NM_003322.6(TULP1):c.823-8G>A	TULP1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 356467	NM_003322.6(TULP1):c.875G>A (p.Arg292Gln)	TULP1 (R292Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 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 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 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 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 287340	NM_003322.6(TULP1):c.846G>A (p.Pro282=)	TULP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 286865	NM_003322.6(TULP1):c.200C>G (p.Thr67Arg)	TULP1 (T67R)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GBenign
Select item 196359	NM_003322.6(TULP1):c.184C>T (p.Pro62Ser)	TULP1 (P62S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 99675	NM_003322.6(TULP1):c.99+1G>A	TULP1	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 14 +1 more	GPathogenic/Likely pathogenic
Select item 99671	NM_003322.6(TULP1):c.776T>C (p.Ile259Thr)	TULP1 (I259T +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 more	GBenign
Select item 99666	NM_003322.6(TULP1):c.1496-6C>A	TULP1	Single nucleotide variant (intron variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
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 99664	NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr)	TULP1 (A496T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 99661	NM_003322.6(TULP1):c.1362G>A (p.Thr454=)	TULP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 94128	NM_003322.6(TULP1):c.797G>T (p.Gly266Val)	TULP1 (G266V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 94127	NM_003322.6(TULP1):c.783G>C (p.Lys261Asn)	TULP1 (K261N +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 more	GBenign
Select item 30263	NM_003322.6(TULP1):c.1582_1587dup (p.Ala529_Ile530insPheAla)	TULP1	Duplication (inframe_insertion)	Leber congenital amaurosis 15	GPathogenic
Select item 30262	NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp)	TULP1 (G368W +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 30261	NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp)	TULP1 (R400W +1 more)	Single nucleotide variant (missense variant)	Brachydactyly +4 more	GPathogenic
Select item 30260	NM_003322.6(TULP1):c.1204G>T (p.Glu402Ter)	TULP1 (E402* +1 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 15	GPathogenic

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Items: 74