Related gene-specific medical variations for Gene (Select 100507034) - ClinVar

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Links from Gene

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3213289	NM_014889.4(PITRM1):c.2590A>C (p.Asn864His)	PITRM1, PITRM1-AS1 (N766H +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213288	NM_014889.4(PITRM1):c.2182C>T (p.Arg728Trp)	PITRM1, PITRM1-AS1 (R293W +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3213287	NM_014889.4(PITRM1):c.2143C>A (p.Pro715Thr)	PITRM1, PITRM1-AS1 (P641T +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3213286	NM_014889.4(PITRM1):c.2131G>A (p.Ala711Thr)	PITRM1, PITRM1-AS1 (A637T +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3213285	NM_014889.4(PITRM1):c.1900G>A (p.Glu634Lys)	PITRM1, PITRM1-AS1 (E626K +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 3024763	NM_014889.4(PITRM1):c.2236G>T (p.Val746Leu)	PITRM1, PITRM1-AS1 (V311L +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3020386	NM_014889.4(PITRM1):c.2533-14A>G	PITRM1, PITRM1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2963136	NM_014889.4(PITRM1):c.2193G>A (p.Thr731=)	PITRM1, PITRM1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2745730	NM_014889.4(PITRM1):c.2267C>G (p.Thr756Arg)	PITRM1, PITRM1-AS1 (T551R +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2732326	NM_014889.4(PITRM1):c.2183G>A (p.Arg728Gln)	PITRM1, PITRM1-AS1 (R720Q +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2732251	NM_014889.4(PITRM1):c.2612G>A (p.Arg871Gln)	PITRM1, PITRM1-AS1 (R797Q +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2640281	NM_014889.4(PITRM1):c.1962C>T (p.Pro654=)	PITRM1, PITRM1-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	PITRM1-related condition +1 more	GBenign/Likely benign
Select item 2640280	NM_014889.4(PITRM1):c.2277A>G (p.Lys759=)	PITRM1, PITRM1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2640279	NM_014889.4(PITRM1):c.2442C>T (p.Arg814=)	PITRM1, PITRM1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2635861	NM_014889.4(PITRM1):c.2441G>A (p.Arg814His)	PITRM1, PITRM1-AS1 (R379H +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	PITRM1-related condition	GUncertain significance
Select item 2623543	NM_014889.4(PITRM1):c.1937T>C (p.Met646Thr)	PITRM1, PITRM1-AS1 (M211T +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2597438	NM_014889.4(PITRM1):c.1882G>A (p.Gly628Ser)	PITRM1, PITRM1-AS1 (G193S +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2591250	NM_014889.4(PITRM1):c.1954G>A (p.Val652Met)	PITRM1, PITRM1-AS1 (V652M +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GUncertain significance
Select item 2527304	NM_014889.4(PITRM1):c.2131G>C (p.Ala711Pro)	PITRM1, PITRM1-AS1 (A276P +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2516599	NM_014889.4(PITRM1):c.2024G>A (p.Arg675Gln)	PITRM1, PITRM1-AS1 (R676Q +4 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2488476	NM_014889.4(PITRM1):c.2296C>T (p.Pro766Ser)	PITRM1, PITRM1-AS1 (P668S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470420	NM_014889.4(PITRM1):c.1987G>A (p.Glu663Lys)	PITRM1, PITRM1-AS1 (E655K +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2421503	NM_014889.4(PITRM1):c.2622C>T (p.Pro874=)	PITRM1, PITRM1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2407345	NM_014889.4(PITRM1):c.2566C>A (p.His856Asn)	PITRM1, PITRM1-AS1 (H421N +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385262	NM_014889.4(PITRM1):c.2438T>C (p.Val813Ala)	PITRM1, PITRM1-AS1 (V739A +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2368424	NM_014889.4(PITRM1):c.2428C>T (p.Arg810Trp)	PITRM1, PITRM1-AS1 (R375W +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2355471	NM_014889.4(PITRM1):c.2300G>A (p.Arg767His)	PITRM1, PITRM1-AS1 (R693H +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2335831	NM_014889.4(PITRM1):c.2293C>T (p.Leu765Phe)	PITRM1, PITRM1-AS1 (L330F +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2291805	NM_014889.4(PITRM1):c.2029C>A (p.Leu677Met)	PITRM1, PITRM1-AS1 (L242M +4 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2286891	NM_014889.4(PITRM1):c.2372A>C (p.Gln791Pro)	PITRM1, PITRM1-AS1 (Q792P +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2244346	NM_014889.4(PITRM1):c.1906G>T (p.Ala636Ser)	PITRM1, PITRM1-AS1 (A201S +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2193748	NM_014889.4(PITRM1):c.2118C>T (p.Thr706=)	PITRM1, PITRM1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2140221	NM_014889.4(PITRM1):c.2299C>T (p.Arg767Cys)	PITRM1, PITRM1-AS1 (R759C +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2132166	NM_014889.4(PITRM1):c.2599G>A (p.Gly867Ser)	PITRM1, PITRM1-AS1 (G793S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2085793	NM_014889.4(PITRM1):c.2604A>C (p.Glu868Asp)	PITRM1, PITRM1-AS1 (E433D +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2084299	NM_014889.4(PITRM1):c.2533-9G>A	PITRM1, PITRM1-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2067441	NM_014889.4(PITRM1):c.2595C>T (p.Tyr865=)	PITRM1-AS1, PITRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2059783	NM_014889.4(PITRM1):c.2596G>A (p.Val866Met)	PITRM1, PITRM1-AS1 (V431M +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2044674	NM_014889.4(PITRM1):c.2233C>G (p.Gln745Glu)	PITRM1, PITRM1-AS1 (Q647E +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2044012	NM_014889.4(PITRM1):c.2410G>A (p.Gly804Ser)	PITRM1, PITRM1-AS1 (G369S +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2027339	NM_014889.4(PITRM1):c.2197G>A (p.Ala733Thr)	PITRM1, PITRM1-AS1 (A298T +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1959853	NM_014889.4(PITRM1):c.2119G>A (p.Ala707Thr)	PITRM1, PITRM1-AS1 (A609T +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1951481	NM_014889.4(PITRM1):c.2235+20C>G	PITRM1, PITRM1-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1925915	NM_014889.4(PITRM1):c.2357C>T (p.Pro786Leu)	PITRM1, PITRM1-AS1 (P712L +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 1920052	NM_014889.4(PITRM1):c.2458-19T>A	PITRM1, PITRM1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1666348	NM_014889.4(PITRM1):c.2490C>G (p.Ala830=)	PITRM1, PITRM1-AS1	Single nucleotide variant (synonymous variant +1 more)	PITRM1-related condition +1 more	GBenign
Select item 1647115	NM_014889.4(PITRM1):c.2337-19T>C	PITRM1, PITRM1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1640741	NM_014889.4(PITRM1):c.2645+9G>A	PITRM1-AS1, PITRM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1630871	NM_014889.4(PITRM1):c.2645+17C>T	PITRM1, PITRM1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599799	NM_014889.4(PITRM1):c.2298G>A (p.Pro766=)	PITRM1, PITRM1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1598881	NM_014889.4(PITRM1):c.2337-16A>G	PITRM1, PITRM1-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1592375	NM_014889.4(PITRM1):c.2202G>A (p.Gly734=)	PITRM1, PITRM1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1552281	NM_014889.4(PITRM1):c.2423A>G (p.Lys808Arg)	PITRM1, PITRM1-AS1 (K373R +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1533166	NM_014889.4(PITRM1):c.2075G>A (p.Cys692Tyr)	PITRM1, PITRM1-AS1 (C257Y +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1448544	NM_014889.4(PITRM1):c.2585C>T (p.Pro862Leu)	PITRM1, PITRM1-AS1 (P764L +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1403417	NM_014889.4(PITRM1):c.2440C>T (p.Arg814Cys)	PITRM1, PITRM1-AS1 (R379C +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1371271	NM_014889.4(PITRM1):c.2239C>T (p.Arg747Trp)	PITRM1, PITRM1-AS1 (R739W +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1347980	NM_014889.4(PITRM1):c.2617G>A (p.Val873Ile)	PITRM1, PITRM1-AS1 (V438I +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1120050	NM_014889.4(PITRM1):c.2236-1dup	PITRM1, PITRM1-AS1	Duplication (splice acceptor variant +1 more)	Infantile onset spinocerebellar ataxia	GPathogenic
Select item 783567	NM_014889.4(PITRM1):c.2627C>T (p.Thr876Met)	PITRM1, PITRM1-AS1 (T605M +8 more)	Single nucleotide variant (missense variant +1 more)	PITRM1-related condition +1 more	GBenign
Select item 768344	NM_014889.4(PITRM1):c.2414G>A (p.Arg805Gln)	PITRM1, PITRM1-AS1 (R731Q +8 more)	Single nucleotide variant (missense variant +1 more)	PITRM1-related condition +1 more	GBenign
Select item 741487	NM_014889.4(PITRM1):c.2240G>A (p.Arg747Gln)	PITRM1, PITRM1-AS1 (R312Q +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 730588	NM_014889.4(PITRM1):c.2196C>T (p.Pro732=)	PITRM1, PITRM1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 720677	NM_014889.4(PITRM1):c.2192C>T (p.Thr731Met)	PITRM1, PITRM1-AS1 (T633M +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 715910	NM_014889.4(PITRM1):c.2223C>T (p.Ser741=)	PITRM1, PITRM1-AS1	Single nucleotide variant (synonymous variant +1 more)	PITRM1-related condition +1 more	GLikely benign
Select item 221958	NM_014889.4(PITRM1):c.2420A>G (p.Lys807Arg)	PITRM1, PITRM1-AS1 (K808R +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Irido-corneo-trabecular dysgenesis	GLikely benign

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Items: 66