ClinVar for MedGen (Select 325056) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 33

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25008531.	NM_003322.6(TULP1):c.1113-1G>T GRCh37: Chr6:35471626 GRCh38: Chr6:35503849	TULP1		Retinitis pigmentosa 14	Likely pathogenic (May 2, 2023)	criteria provided, single submitter
Select item 17083782.	NM_003322.6(TULP1):c.162dup (p.Thr55fs) GRCh37: Chr6:35479984-35479985 GRCh38: Chr6:35512207-35512208	TULP1	T55fs	Retinitis pigmentosa 14, Pigmentary retinopathy	Pathogenic/Likely pathogenic (Dec 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13390363.	NM_003322.6(TULP1):c.1612A>C (p.Lys538Gln) GRCh37: Chr6:35466121 GRCh38: Chr6:35498344	TULP1	K485Q, K538Q	Retinitis pigmentosa 14	Uncertain significance	criteria provided, single submitter
Select item 12971274.	NM_003322.6(TULP1):c.1113-9_1113delinsCATC GRCh37: Chr6:35471625-35471634 GRCh38: Chr6:35503848-35503857	TULP1		Retinitis pigmentosa, Retinitis pigmentosa 14	Conflicting interpretations of pathogenicity (May 2, 2023)	criteria provided, conflicting interpretations
Select item 12905485.	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 11845536.	NC_000006.12:g.35506278_35506281del GRCh37: Chr6:35474053-35474056 GRCh38: Chr6:35506276-35506279	TULP1		Retinitis pigmentosa 14	Pathogenic	no assertion criteria provided
Select item 11845527.	NM_003322.6(TULP1):c.1066C>A (p.Pro356Thr) GRCh37: Chr6:35473564 GRCh38: Chr6:35505787	TULP1	P303T, P356T	Retinitis pigmentosa 14	Pathogenic	no assertion criteria provided
Select item 11700738.	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 10657689.	NM_003322.6(TULP1):c.187G>T (p.Gly63Ter) GRCh37: Chr6:35479960 GRCh38: Chr6:35512183	TULP1	G63*	TULP1-related condition, Retinitis pigmentosa 14	Pathogenic (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106575810.	NM_003322.6(TULP1):c.932G>A (p.Arg311Gln) GRCh37: Chr6:35473847 GRCh38: Chr6:35506070	TULP1	R258Q, R311Q	TULP1-related condition, Retinitis pigmentosa 14, not provided	Pathogenic/Likely pathogenic (Aug 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106575711.	NM_003322.6(TULP1):c.1553_1556dup (p.Tyr520fs) GRCh37: Chr6:35466176-35466177 GRCh38: Chr6:35498399-35498400	TULP1	Y467fs, Y520fs	Retinitis pigmentosa 14	Likely pathogenic (Apr 8, 2021)	criteria provided, single submitter
Select item 106567412.	NM_003322.6(TULP1):c.1016G>A (p.Gly339Asp) GRCh37: Chr6:35473614 GRCh38: Chr6:35505837	TULP1	G286D, G339D	Retinitis pigmentosa 14	Uncertain significance (Apr 8, 2021)	criteria provided, single submitter
Select item 104272513.	NM_003322.6(TULP1):c.1087G>A (p.Gly363Arg) GRCh37: Chr6:35473543 GRCh38: Chr6:35505766	TULP1	G310R, G363R	not provided, Retinitis pigmentosa 14	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 97798014.	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 93217215.	NM_006445.4(PRPF8):c.5619+2T>C GRCh37: Chr17:1559940 GRCh38: Chr17:1656646	PRPF8		Retinitis pigmentosa 14	Uncertain significance (Jun 4, 2020)	criteria provided, single submitter
Select item 86592116.	NM_003322.6(TULP1):c.821del (p.Lys274fs) GRCh37: Chr6:35476987 GRCh38: Chr6:35509210	TULP1	K274fs, K221fs	Retinitis pigmentosa 14, not provided, Retinal dystrophy	Pathogenic/Likely pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82815117.	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 80221018.	NM_003322.6(TULP1):c.931C>T (p.Arg311Trp) GRCh37: Chr6:35473848 GRCh38: Chr6:35506071	TULP1	R311W, R258W	Leber congenital amaurosis 1, Retinitis pigmentosa 14, not specified, not provided	Conflicting interpretations of pathogenicity (Aug 11, 2023)	criteria provided, conflicting interpretations
Select item 28686519.	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 14312620.	NM_003322.6(TULP1):c.349G>A (p.Glu117Lys) GRCh37: Chr6:35479425 GRCh38: Chr6:35511648	TULP1	E117K	not provided, Retinitis pigmentosa 14	Conflicting interpretations of pathogenicity (Mar 22, 2022)	criteria provided, conflicting interpretations
Select item 9967521.	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 9967122.	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 9966623.	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 9966524.	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 9966325.	NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg) GRCh37: Chr6:35467787 GRCh38: Chr6:35500010	TULP1	K489R, K436R	not provided	Pathogenic (Aug 31, 2022)	criteria provided, single submitter
Select item 9412726.	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 736527.	NM_003322.6(TULP1):c.718+2T>C GRCh37: Chr6:35477409 GRCh38: Chr6:35509632	TULP1		Retinitis pigmentosa 14	Pathogenic (Dec 1, 2007)	no assertion criteria provided
Select item 736428.	NM_003322.6(TULP1):c.1511_1521del (p.Leu504fs) GRCh37: Chr6:35466212-35466222 GRCh38: Chr6:35498435-35498445	TULP1	L451fs, L504fs	Retinitis pigmentosa 14	Pathogenic (Jul 1, 2007)	no assertion criteria provided
Select item 736329.	NM_003322.6(TULP1):c.1444C>T (p.Arg482Trp) GRCh37: Chr6:35467809 GRCh38: Chr6:35500032	TULP1	R482W, R429W	not provided	Conflicting interpretations of pathogenicity (Sep 13, 2022)	criteria provided, conflicting interpretations
Select item 736230.	NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser) GRCh37: Chr6:35471593 GRCh38: Chr6:35503816	TULP1	F382S, F329S	not provided	Pathogenic (Jun 29, 2022)	criteria provided, single submitter
Select item 735931.	NM_003322.6(TULP1):c.1376T>A (p.Ile459Lys) GRCh37: Chr6:35467877 GRCh38: Chr6:35500100	TULP1	I459K, I406K	not provided	Likely pathogenic (Oct 24, 2022)	criteria provided, single submitter
Select item 735832.	NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu) GRCh37: Chr6:35467782 GRCh38: Chr6:35500005	TEAD3, TULP1	F491L, F438L	Retinal dystrophy, not provided, Retinitis pigmentosa 14	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 735733.	NM_003322.6(TULP1):c.1259G>C (p.Arg420Pro) GRCh37: Chr6:35471400 GRCh38: Chr6:35503623	TULP1	R420P, R367P	not provided	Pathogenic (Oct 24, 2022)	criteria provided, single submitter

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 33