ClinVar for MedGen (Select 462556) - ClinVar

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Items: 71

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16752011.	NM_003322.6(TULP1):c.790C>T (p.Gln264Ter) GRCh37: Chr6:35477018 GRCh38: Chr6:35509241	TULP1	Q211, Q264	Leber congenital amaurosis, Leber congenital amaurosis 15	Pathogenic (Apr 5, 2022)	criteria provided, single submitter
Select item 15261532.	NM_003322.6(TULP1):c.999+5G>A GRCh37: Chr6:35473775 GRCh38: Chr6:35505998	TULP1		Leber congenital amaurosis 15	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 12905483.	NM_003322.6(TULP1):c.499+26C>T GRCh37: Chr6:35478612 GRCh38: Chr6:35510835	TULP1		not provided, Leber congenital amaurosis 15, Retinitis pigmentosa 14	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11700734.	NM_003322.6(TULP1):c.823-17G>C GRCh37: Chr6:35474073 GRCh38: Chr6:35506296	TULP1		Leber congenital amaurosis 15, Retinitis pigmentosa 14, not provided	Benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10321215.	NM_003322.6(TULP1):c.457G>A (p.Ala153Thr) GRCh37: Chr6:35478680 GRCh38: Chr6:35510903	TULP1	A100T, A153T	Inborn genetic diseases, not provided, Leber congenital amaurosis 15	Uncertain significance (Apr 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9873696.	NM_003322.6(TULP1):c.568G>T (p.Glu190Ter) GRCh37: Chr6:35477637 GRCh38: Chr6:35509860	TULP1	E137, E190	not provided, Leber congenital amaurosis 15	Pathogenic (Oct 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9779807.	NM_003322.6(TULP1):c.1445G>A (p.Arg482Gln) GRCh37: Chr6:35467808 GRCh38: Chr6:35500031	TULP1	R429Q, R482Q	not provided, Retinitis pigmentosa 14	Pathogenic (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9779798.	NM_003322.6(TULP1):c.1612A>G (p.Lys538Glu) GRCh37: Chr6:35466121 GRCh38: Chr6:35498344	TULP1	K485E, K538E	not provided	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 9779789.	NM_003322.6(TULP1):c.1522C>T (p.Arg508Cys) GRCh37: Chr6:35466211 GRCh38: Chr6:35498434	TULP1	R455C, R508C	not provided	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 97797710.	NM_003322.6(TULP1):c.1204G>A (p.Glu402Lys) GRCh37: Chr6:35471534 GRCh38: Chr6:35503757	TULP1	E349K, E402K	Leber congenital amaurosis 15	Likely pathogenic	no assertion criteria provided
Select item 97797611.	NM_003322.6(TULP1):c.1081del (p.Arg361fs) GRCh37: Chr6:35473549 GRCh38: Chr6:35505772	TULP1	R308fs, R361fs	Leber congenital amaurosis 15	Pathogenic	no assertion criteria provided
Select item 97797512.	NM_003322.6(TULP1):c.148del (p.Glu50fs) GRCh37: Chr6:35479999 GRCh38: Chr6:35512222	TULP1	E50fs	Leber congenital amaurosis 15	Pathogenic	no assertion criteria provided
Select item 93214113.	NM_003322.6(TULP1):c.139G>T (p.Glu47Ter) GRCh37: Chr6:35480008 GRCh38: Chr6:35512231	TULP1	E47*	Leber congenital amaurosis 15	Likely pathogenic (Aug 22, 2019)	criteria provided, single submitter
Select item 93183214.	NM_003322.6(TULP1):c.1112+2T>G GRCh37: Chr6:35473516 GRCh38: Chr6:35505739	TULP1		Leber congenital amaurosis 15	Pathogenic (Oct 22, 2018)	criteria provided, single submitter
Select item 93050815.	NM_003322.6(TULP1):c.1025G>A (p.Arg342Gln) GRCh37: Chr6:35473605 GRCh38: Chr6:35505828	TULP1	R289Q, R342Q	not provided, Leber congenital amaurosis 15	Conflicting interpretations of pathogenicity (Sep 16, 2022)	criteria provided, conflicting interpretations
Select item 93050716.	NM_003322.6(TULP1):c.1258C>T (p.Arg420Cys) GRCh37: Chr6:35471401 GRCh38: Chr6:35503624	TULP1	R367C, R420C	Leber congenital amaurosis 15	Likely pathogenic (Jun 1, 2019)	criteria provided, single submitter
Select item 90778117.	NM_003322.6(TULP1):c.904G>A (p.Gly302Ser) GRCh37: Chr6:35473875 GRCh38: Chr6:35506098	TULP1	G249S, G302S	Retinitis pigmentosa, not provided, Leber congenital amaurosis 15	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90778018.	NM_003322.6(TULP1):c.1112+8T>C GRCh37: Chr6:35473510 GRCh38: Chr6:35505733	TULP1		Retinitis pigmentosa, not provided, Leber congenital amaurosis 15	Conflicting interpretations of pathogenicity (May 7, 2022)	criteria provided, conflicting interpretations
Select item 90777919.	NM_003322.6(TULP1):c.1152C>T (p.Asn384=) GRCh37: Chr6:35471586 GRCh38: Chr6:35503809	TULP1		Leber congenital amaurosis 15, Retinitis pigmentosa, not provided	Conflicting interpretations of pathogenicity (Oct 14, 2022)	criteria provided, conflicting interpretations
Select item 90777820.	NM_003322.6(TULP1):c.1169G>A (p.Arg390His) GRCh37: Chr6:35471569 GRCh38: Chr6:35503792	TULP1	R390H, R337H	Leber congenital amaurosis 15, Inborn genetic diseases, Retinitis pigmentosa, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 90683821.	NM_003322.6(TULP1):c.647C>T (p.Ala216Val) GRCh37: Chr6:35477482 GRCh38: Chr6:35509705	TULP1	A216V, A163V	Leber congenital amaurosis 15, not provided, Retinitis pigmentosa	Uncertain significance (Dec 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90683722.	NM_003322.6(TULP1):c.682G>A (p.Glu228Lys) GRCh37: Chr6:35477447 GRCh38: Chr6:35509670	TULP1	E175K, E228K	Leber congenital amaurosis 15, Retinitis pigmentosa	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90683623.	NM_003322.6(TULP1):c.719G>A (p.Gly240Asp) GRCh37: Chr6:35477089 GRCh38: Chr6:35509312	TULP1	G240D, G187D	Leber congenital amaurosis 15, not provided, Retinitis pigmentosa	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90679524.	NM_003322.6(TULP1):c.1495+3G>A GRCh37: Chr6:35467755 GRCh38: Chr6:35499978	TULP1		Leber congenital amaurosis 15, not provided, Retinitis pigmentosa	Uncertain significance (May 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90679425.	NM_003322.6(TULP1):c.1563G>A (p.Pro521=) GRCh37: Chr6:35466170 GRCh38: Chr6:35498393	TULP1		Leber congenital amaurosis 15, not provided, Retinitis pigmentosa	Conflicting interpretations of pathogenicity (Feb 4, 2022)	criteria provided, conflicting interpretations
Select item 90530526.	NM_003322.6(TULP1):c.224C>T (p.Ser75Phe) GRCh37: Chr6:35479550 GRCh38: Chr6:35511773	TULP1	S75F	Leber congenital amaurosis 15, Retinitis pigmentosa	Uncertain significance (Apr 20, 2018)	criteria provided, single submitter
Select item 90519527.	NM_003322.6(TULP1):c.1569C>T (p.Cys523=) GRCh37: Chr6:35466164 GRCh38: Chr6:35498387	TULP1		Leber congenital amaurosis 15, not provided, Retinitis pigmentosa	Conflicting interpretations of pathogenicity (May 29, 2021)	criteria provided, conflicting interpretations
Select item 90519428.	NM_003322.6(TULP1):c.*272C>G GRCh37: Chr6:35465832 GRCh38: Chr6:35498055	TULP1		Leber congenital amaurosis 15, Retinitis pigmentosa	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90452129.	NM_003322.6(TULP1):c.541G>C (p.Val181Leu) GRCh37: Chr6:35477664 GRCh38: Chr6:35509887	TULP1	V128L, V181L	Leber congenital amaurosis 15, not provided, Retinitis pigmentosa	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90445530.	NM_003322.6(TULP1):c.901C>G (p.Gln301Glu) GRCh37: Chr6:35473878 GRCh38: Chr6:35506101	TULP1	Q248E, Q301E	Leber congenital amaurosis 15, not provided	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86708431.	NM_003322.6(TULP1):c.100C>T (p.Arg34Ter) GRCh37: Chr6:35480047 GRCh38: Chr6:35512270	TULP1	R34*	Retinal dystrophy, not provided	Pathogenic/Likely pathogenic (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86696732.	NM_003322.6(TULP1):c.1318C>T (p.Arg440Ter) GRCh37: Chr6:35471341 GRCh38: Chr6:35503564	TULP1	R387, R440	Retinal dystrophy, not provided	Pathogenic/Likely pathogenic (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85284733.	NM_003322.6(TULP1):c.1199G>A (p.Arg400Gln) GRCh37: Chr6:35471539 GRCh38: Chr6:35503762	TULP1	R400Q, R347Q	not provided	Pathogenic (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84424434.	NM_003322.6(TULP1):c.296A>G (p.Lys99Arg) GRCh37: Chr6:35479478 GRCh38: Chr6:35511701	TULP1	K99R	Leber congenital amaurosis 15, not provided, Inborn genetic diseases, Retinitis pigmentosa	Uncertain significance (Jan 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 82996835.	NM_003322.6(TULP1):c.794del (p.Lys265fs) GRCh37: Chr6:35477014 GRCh38: Chr6:35509237	TULP1	K265fs, K212fs	Leber congenital amaurosis 15	Pathogenic (Jun 6, 2019)	no assertion criteria provided
Select item 82815136.	NM_003322.6(TULP1):c.901C>T (p.Gln301Ter) GRCh37: Chr6:35473878 GRCh38: Chr6:35506101	TULP1	Q248, Q301	not provided, Leber congenital amaurosis, Abnormality of the eye	Pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 77984637.	NM_003322.6(TULP1):c.603G>A (p.Gly201=) GRCh37: Chr6:35477526 GRCh38: Chr6:35509749	TULP1		not provided, Leber congenital amaurosis 15, Retinitis pigmentosa	Conflicting interpretations of pathogenicity (Jul 1, 2023)	criteria provided, conflicting interpretations
Select item 77298738.	NM_003322.6(TULP1):c.771G>A (p.Thr257=) GRCh37: Chr6:35477037 GRCh38: Chr6:35509260	TULP1		Retinitis pigmentosa, not provided, Leber congenital amaurosis 15	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 76711439.	NM_003322.6(TULP1):c.823-4A>G GRCh37: Chr6:35474060 GRCh38: Chr6:35506283	TULP1		not provided, not specified, Retinitis pigmentosa, Leber congenital amaurosis 15	Conflicting interpretations of pathogenicity (Oct 30, 2022)	criteria provided, conflicting interpretations
Select item 45000540.	NM_003322.6(TULP1):c.1024C>T (p.Arg342Ter) GRCh37: Chr6:35473606 GRCh38: Chr6:35505829	TULP1	R342, R289	Leber congenital amaurosis 15, not provided	Pathogenic/Likely pathogenic (Jun 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35647741.	NM_003322.6(TULP1):c.26G>A (p.Arg9Gln) GRCh37: Chr6:35480610 GRCh38: Chr6:35512833	TULP1	R9Q	Leber congenital amaurosis 15, Retinitis pigmentosa	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35647642.	NM_003322.6(TULP1):c.85C>T (p.Arg29Trp) GRCh37: Chr6:35480430 GRCh38: Chr6:35512653	TULP1	R29W	Leber congenital amaurosis 15, Retinitis pigmentosa	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35647543.	NM_003322.6(TULP1):c.192T>C (p.Ala64=) GRCh37: Chr6:35479582 GRCh38: Chr6:35511805	TULP1		Leber congenital amaurosis 15, Retinitis pigmentosa	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35647444.	NM_003322.6(TULP1):c.249G>A (p.Ala83=) GRCh37: Chr6:35479525 GRCh38: Chr6:35511748	TULP1		Leber congenital amaurosis 15, Retinitis pigmentosa, not provided	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 35647345.	NM_003322.6(TULP1):c.254A>G (p.Gln85Arg) GRCh37: Chr6:35479520 GRCh38: Chr6:35511743	TULP1	Q85R	Leber congenital amaurosis 15, Retinitis pigmentosa, not provided	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35647246.	NM_003322.6(TULP1):c.477G>C (p.Arg159Ser) GRCh37: Chr6:35478660 GRCh38: Chr6:35510883	TULP1	R159S, R106S	Retinitis pigmentosa, Inborn genetic diseases, not provided, Leber congenital amaurosis 15	Uncertain significance (Jul 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35647147.	NM_003322.6(TULP1):c.499+12G>C GRCh37: Chr6:35478626 GRCh38: Chr6:35510849	TULP1		Leber congenital amaurosis 15, Retinitis pigmentosa, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 35647048.	NM_003322.6(TULP1):c.544A>G (p.Arg182Gly) GRCh37: Chr6:35477661 GRCh38: Chr6:35509884	TULP1	R182G, R129G	not provided, Leber congenital amaurosis 15, Retinitis pigmentosa	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 35646949.	NM_003322.6(TULP1):c.559C>T (p.Pro187Ser) GRCh37: Chr6:35477646 GRCh38: Chr6:35509869	TULP1	P187S, P134S	Leber congenital amaurosis 15, Retinitis pigmentosa	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35646850.	NM_003322.6(TULP1):c.823-8G>A GRCh37: Chr6:35474064 GRCh38: Chr6:35506287	TULP1		Retinitis pigmentosa, not provided, Leber congenital amaurosis 15	Conflicting interpretations of pathogenicity (Jul 13, 2022)	criteria provided, conflicting interpretations
Select item 35646751.	NM_003322.6(TULP1):c.875G>A (p.Arg292Gln) GRCh37: Chr6:35473904 GRCh38: Chr6:35506127	TULP1	R292Q, R239Q	Retinitis pigmentosa, not provided, Leber congenital amaurosis 15	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35646552.	NM_003322.6(TULP1):c.*31C>T GRCh37: Chr6:35466073 GRCh38: Chr6:35498296	TULP1		Retinitis pigmentosa, Leber congenital amaurosis 15	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35646453.	NM_003322.6(TULP1):c.*268C>A GRCh37: Chr6:35465836 GRCh38: Chr6:35498059	TULP1		Retinitis pigmentosa, Leber congenital amaurosis 15	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35646254.	NM_003322.6(TULP1):c.*278C>T GRCh37: Chr6:35465826 GRCh38: Chr6:35498049	TULP1		Leber congenital amaurosis 15, Retinitis pigmentosa	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35646155.	NM_003322.6(TULP1):c.*305G>A GRCh37: Chr6:35465799 GRCh38: Chr6:35498022	TULP1		Leber congenital amaurosis 15, Retinitis pigmentosa	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35646056.	NM_003322.6(TULP1):c.*318T>G GRCh37: Chr6:35465786 GRCh38: Chr6:35498009	TULP1		Leber congenital amaurosis 15, Retinitis pigmentosa	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 28734057.	NM_003322.6(TULP1):c.846G>A (p.Pro282=) GRCh37: Chr6:35473933 GRCh38: Chr6:35506156	TULP1		not provided, Retinitis pigmentosa, Leber congenital amaurosis 15	Conflicting interpretations of pathogenicity (Nov 2, 2022)	criteria provided, conflicting interpretations
Select item 28686558.	NM_003322.6(TULP1):c.200C>G (p.Thr67Arg) GRCh37: Chr6:35479574 GRCh38: Chr6:35511797	TULP1	T67R	not provided, Retinitis pigmentosa, not specified, Leber congenital amaurosis 15, Retinitis pigmentosa 14	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19635959.	NM_003322.6(TULP1):c.184C>T (p.Pro62Ser) GRCh37: Chr6:35479963 GRCh38: Chr6:35512186	TULP1	P62S	Inborn genetic diseases, Leber congenital amaurosis 15, not provided, Retinitis pigmentosa	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9967560.	NM_003322.6(TULP1):c.99+1G>A GRCh37: Chr6:35480415 GRCh38: Chr6:35512638	TULP1		not provided, Retinitis pigmentosa 14	Pathogenic/Likely pathogenic (Apr 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9967161.	NM_003322.6(TULP1):c.776T>C (p.Ile259Thr) GRCh37: Chr6:35477032 GRCh38: Chr6:35509255	TULP1	I259T, I206T	not specified, not provided, Retinitis pigmentosa, Leber congenital amaurosis 15, Leber congenital amaurosis 1, Retinitis pigmentosa 14	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9966662.	NM_003322.6(TULP1):c.1496-6C>A GRCh37: Chr6:35466243 GRCh38: Chr6:35498466	TULP1		Leber congenital amaurosis 15, Retinitis pigmentosa 14, Leber congenital amaurosis, not provided, Retinitis pigmentosa, Retinitis pigmentosa 14, Retinal dystrophy	Pathogenic/Likely pathogenic (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9966563.	NM_003322.6(TULP1):c.1495+1G>A GRCh37: Chr6:35467757 GRCh38: Chr6:35499980	TULP1		not provided, Leber congenital amaurosis 15, Retinitis pigmentosa 14, Retinal dystrophy	Pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9966464.	NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr) GRCh37: Chr6:35467767 GRCh38: Chr6:35499990	TULP1	A496T, A443T	not specified, Leber congenital amaurosis 15, Retinitis pigmentosa, not provided	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 9966165.	NM_003322.6(TULP1):c.1362G>A (p.Thr454=) GRCh37: Chr6:35467891 GRCh38: Chr6:35500114	TULP1		not provided, Leber congenital amaurosis 15, Retinitis pigmentosa	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9412866.	NM_003322.6(TULP1):c.797G>T (p.Gly266Val) GRCh37: Chr6:35477011 GRCh38: Chr6:35509234	TULP1	G266V, G213V	not provided, Retinitis pigmentosa, Leber congenital amaurosis 15	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9412767.	NM_003322.6(TULP1):c.783G>C (p.Lys261Asn) GRCh37: Chr6:35477025 GRCh38: Chr6:35509248	TULP1	K261N, K208N	not specified, not provided, Retinitis pigmentosa, Leber congenital amaurosis 15, Leber congenital amaurosis 1, Retinitis pigmentosa 14	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3026368.	NM_003322.6(TULP1):c.1582_1587dup (p.Ala529_Ile530insPheAla) GRCh37: Chr6:35466145-35466146 GRCh38: Chr6:35498368-35498369	TULP1		Leber congenital amaurosis 15	Pathogenic (Nov 1, 2007)	no assertion criteria provided
Select item 3026269.	NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp) GRCh37: Chr6:35473528 GRCh38: Chr6:35505751	TULP1	G368W, G315W	not provided	Pathogenic (Oct 24, 2022)	criteria provided, single submitter
Select item 3026170.	NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp) GRCh37: Chr6:35471540 GRCh38: Chr6:35503763	TULP1	R400W, R347W	Brachydactyly, Polydactyly, postaxial, type A1, Syndactyly, Retinal degeneration	Pathogenic (Feb 1, 2019)	criteria provided, single submitter
Select item 3026071.	NM_003322.6(TULP1):c.1204G>T (p.Glu402Ter) GRCh37: Chr6:35471534 GRCh38: Chr6:35503757	TULP1	E402, E349	Leber congenital amaurosis 15	Pathogenic (Apr 1, 2004)	no assertion criteria provided

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Items: 71