Related gene-specific medical variations for Gene (Select 10210) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2994492	NM_005802.5(TOPORS):c.2T>C (p.Met1Thr)	SMIM27, TOPORS (M1T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2793958	NM_005802.5(TOPORS):c.3+2T>C	SMIM27, TOPORS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2659140	NM_005802.5(TOPORS):c.4-193G>T	LOC130001630, SMIM27 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2005006	NM_005802.5(TOPORS):c.3+10C>T	SMIM27, TOPORS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1904086	NM_005802.5(TOPORS):c.3+17A>T	SMIM27, TOPORS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1151217	NM_005802.5(TOPORS):c.3+8G>A	SMIM27, TOPORS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1020362	NM_005802.5(TOPORS):c.3+1G>A	SMIM27, TOPORS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 987446	NM_005802.5(TOPORS):c.2558_2559insT (p.His855fs)	TOPORS (H790fs +1 more)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 976633	NM_005802.5(TOPORS):c.-61G>A	SMIM27, TOPORS	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa	GLikely benign
Select item 931667	NM_005802.5(TOPORS):c.223T>C (p.Phe75Leu)	TOPORS (F10L +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 31	GUncertain significance
Select item 915085	NM_005802.5(TOPORS):c.3+3A>G	SMIM27, TOPORS	Single nucleotide variant (5 prime UTR variant +2 more)	Retinitis pigmentosa	GUncertain significance
Select item 866852	NM_005802.5(TOPORS):c.3068C>T (p.Ser1023Leu)	TOPORS (S958L +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866096	NM_005802.5(TOPORS):c.79G>A (p.Gly27Ser)	TOPORS (G27S)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 865844	NM_005802.5(TOPORS):c.2587dup (p.Arg863fs)	TOPORS (R798fs +1 more)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 858769	NM_005802.5(TOPORS):c.1A>G (p.Met1Val)	SMIM27, TOPORS (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 811354	NM_005802.5(TOPORS):c.842T>A (p.Ile281Asn)	TOPORS (I216N +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 31	GUncertain significance
Select item 618438	NM_005802.5(TOPORS):c.2006G>A (p.Arg669Lys)	TOPORS (R669K +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 31	GUncertain significance
Select item 523486	NM_005802.5(TOPORS):c.1379G>C (p.Gly460Ala)	TOPORS (G460A +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 31 +4 more	GUncertain significance
Select item 366575	NM_005802.5(TOPORS):c.-64C>T	SMIM27, TOPORS	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 366574	NM_005802.5(TOPORS):c.-28G>C	SMIM27, TOPORS (D10E)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa +1 more	GBenign
Select item 161562	NM_005802.5(TOPORS):c.2808A>C (p.Gln936His)	TOPORS (Q871H +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance

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Links from Gene

Items: 21