ClinVar for MedGen (Select 325056) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236015	NM_003322.6(TULP1):c.1207C>G (p.Leu403Val)	TULP1 (L350V +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 14	GUncertain significance
Select item 2500853	NM_003322.6(TULP1):c.1113-1G>T	TULP1	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 14	GLikely pathogenic
Select item 1708378	NM_003322.6(TULP1):c.162dup (p.Thr55fs)	TULP1 (T55fs)	Duplication (frameshift variant)	Retinitis pigmentosa 14 +1 more	GPathogenic/Likely pathogenic
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 1297127	NM_003322.6(TULP1):c.1113-9_1113delinsCATC	TULP1	Indel (splice acceptor variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
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 1184553	NC_000006.12:g.35506278_35506281del	TULP1	Deletion	Retinitis pigmentosa 14	GPathogenic
Select item 1184552	NM_003322.6(TULP1):c.1066C>A (p.Pro356Thr)	TULP1 (P303T +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 14	GPathogenic
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 1065768	NM_003322.6(TULP1):c.187G>T (p.Gly63Ter)	TULP1 (G63*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1065758	NM_003322.6(TULP1):c.932G>A (p.Arg311Gln)	TULP1 (R258Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 1065674	NM_003322.6(TULP1):c.1016G>A (p.Gly339Asp)	TULP1 (G286D +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 14	GUncertain significance
Select item 1042725	NM_003322.6(TULP1):c.1087G>A (p.Gly363Arg)	TULP1 (G310R +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 14 +1 more	GConflicting classifications of pathogenicity
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 932172	NM_006445.4(PRPF8):c.5619+2T>C	PRPF8	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 14	GUncertain significance
Select item 865921	NM_003322.6(TULP1):c.821del (p.Lys274fs)	TULP1 (K274fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 802210	NM_003322.6(TULP1):c.931C>T (p.Arg311Trp)	TULP1 (R311W +1 more)	Single nucleotide variant (missense variant)	not specified +3 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)	Leber congenital amaurosis 15 +5 more	GBenign
Select item 143126	NM_003322.6(TULP1):c.349G>A (p.Glu117Lys)	TULP1 (E117K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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)	Retinitis pigmentosa 14 +5 more	GPathogenic/Likely pathogenic
Select item 99665	NM_003322.6(TULP1):c.1495+1G>A	TULP1	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 14 +3 more	GPathogenic
Select item 99663	NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg)	TULP1 (K489R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 94127	NM_003322.6(TULP1):c.783G>C (p.Lys261Asn)	TULP1 (K261N +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign
Select item 7365	NM_003322.6(TULP1):c.718+2T>C	TULP1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
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 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 7362	NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser)	TULP1 (F382S +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic
Select item 7359	NM_003322.6(TULP1):c.1376T>A (p.Ile459Lys)	TULP1 (I459K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 7357	NM_003322.6(TULP1):c.1259G>C (p.Arg420Pro)	TULP1 (R420P +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Items: 34