"Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg"[subm - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248801	NM_003322.6(TULP1):c.1550A>G (p.Asp517Gly)	TULP1 (D464G +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
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 99666	NM_003322.6(TULP1):c.1496-6C>A	TULP1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +5 more	GPathogenic/Likely pathogenic
Select item 812437	NM_003322.6(TULP1):c.1495+2dup	TULP1	Duplication (splice donor variant)	not provided	GPathogenic
Select item 99663	NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg)	TULP1 (K489R +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 15 +4 more	GPathogenic/Likely pathogenic
Select item 3248831	NM_003322.6(TULP1):c.1450A>C (p.Thr484Pro)	TULP1 (T431P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3248700	NM_003322.6(TULP1):c.1394C>G (p.Pro465Arg)	TULP1 (P412R +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3248794	NM_003322.6(TULP1):c.1382del (p.Leu461fs)	TULP1 (L408fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 194380	NM_003322.6(TULP1):c.1376T>C (p.Ile459Thr)	TULP1 (I459T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 866967	NM_003322.6(TULP1):c.1318C>T (p.Arg440Ter)	TULP1 (R387* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 770046	NM_003322.6(TULP1):c.1297G>A (p.Glu433Lys)	TULP1 (E380K +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 191207	NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln)	TULP1 (R419Q +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 14 +3 more	GConflicting classifications of pathogenicity
Select item 813100	NM_003322.6(TULP1):c.1201C>T (p.Gln401Ter)	TULP1 (Q348* +1 more)	Single nucleotide variant (nonsense)	Stargardt disease +2 more	GPathogenic
Select item 30261	NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp)	TULP1 (R400W +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 1482437	NM_003322.6(TULP1):c.1132C>T (p.Arg378Cys)	TULP1 (R378C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3248986	NM_003322.6(TULP1):c.1113-2A>G	TULP1	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GPathogenic
Select item 3248791	NM_003322.6(TULP1):c.1102G>C (p.Gly368Arg)	TULP1 (G315R +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 30262	NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp)	TULP1 (G368W +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 2136379	NM_003322.6(TULP1):c.1081C>T (p.Arg361Ter)	TULP1 (R308* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic
Select item 812440	NM_003322.6(TULP1):c.1047T>G (p.Asn349Lys)	TULP1 (N296K +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1484399	NM_003322.6(TULP1):c.1010T>C (p.Leu337Ser)	TULP1 (L284S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1584781	NM_003322.6(TULP1):c.999+11A>C	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3249008	NM_003322.6(TULP1):c.917G>A (p.Arg306His)	TULP1 (R253H +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3248821	NM_003322.6(TULP1):c.916C>T (p.Arg306Cys)	TULP1 (R253C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 904455	NM_003322.6(TULP1):c.901C>G (p.Gln301Glu)	TULP1 (Q248E +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 15 +1 more	GUncertain significance
Select item 956775	NM_003322.6(TULP1):c.853C>G (p.Pro285Ala)	TULP1 (P232A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 94128	NM_003322.6(TULP1):c.797G>T (p.Gly266Val)	TULP1 (G266V +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GUncertain significance
Select item 7365	NM_003322.6(TULP1):c.718+2T>C	TULP1	Single nucleotide variant (splice donor variant)	Retinal dystrophy +1 more	GPathogenic
Select item 1467032	NM_003322.6(TULP1):c.538C>T (p.Arg180Cys)	TULP1 (R127C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 3248800	NM_003322.6(TULP1):c.499+5G>T	TULP1	Single nucleotide variant (intron variant)	Retinal dystrophy	GLikely pathogenic
Select item 3248998	NM_003322.6(TULP1):c.349+2T>C	TULP1	Single nucleotide variant (intron variant +1 more)	Retinal dystrophy	GPathogenic
Select item 844244	NM_003322.6(TULP1):c.296A>G (p.Lys99Arg)	TULP1 (K99R)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 15 +3 more	GUncertain significance
Select item 838266	NM_003322.6(TULP1):c.263A>G (p.Tyr88Cys)	TULP1 (Y88C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 33