PITRM1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 347

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 58710	GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1	ADARB2, ADARB2-AS1 +276 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC130003153, LOC130003154 +421 more	Copy number gain	See cases	GPathogenic
Select item 57431	GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3	ADARB2, ADARB2-AS1 +298 more	Copy number gain	See cases	GPathogenic
Select item 57407	GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3	ADARB2, ADARB2-AS1 +352 more	Copy number gain	See cases	GPathogenic
Select item 149271	GRCh38/hg38 10p15.3-15.2(chr10:538646-3636571)x1	ADARB2, ADARB2-AS1 +86 more	Copy number loss	See cases	GUncertain significance
Select item 154099	GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3	ADARB2, AKR1C1 +304 more	Copy number gain	See cases	GLikely pathogenic
Select item 151443	GRCh38/hg38 10p15.3-15.2(chr10:2366657-3164173)x3	LINC02645, LOC105376350 +16 more	Copy number gain	See cases	GUncertain significance
Select item 147381	GRCh38/hg38 10p15.3-15.2(chr10:2496252-3191229)x3	LINC02645, LOC105376350 +19 more	Copy number gain	See cases	GUncertain significance
Select item 545134	Single allele	LOC130003188, LOC130003189 +195 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 221732	GRCh38/hg38 10p15.2(chr10:3105924-3160299)x1	PITRM1, PITRM1-AS1 +2 more	Copy number loss	Premature ovarian failure	GBenign
Select item 1711252	NC_000010.11:g.3137566G>A	PITRM1	Single nucleotide variant	not provided	GBenign
Select item 1671282	NM_014889.4(PITRM1):c.3113G>A (p.Ter1038=)	PITRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1598743	NM_014889.4(PITRM1):c.3110A>G (p.Gln1037Arg)	PITRM1 (Q1029R +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1956773	NM_014889.4(PITRM1):c.3093C>T (p.Asp1031=)	PITRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2545096	NM_014889.4(PITRM1):c.3070G>A (p.Glu1024Lys)	PITRM1 (E753K +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2722184	NM_014889.4(PITRM1):c.3063C>T (p.Leu1021=)	PITRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2266895	NM_014889.4(PITRM1):c.3061C>A (p.Leu1021Ile)	PITRM1 (L586I +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1628450	NM_014889.4(PITRM1):c.3049G>A (p.Gly1017Ser)	PITRM1 (G1009S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 721117	NM_014889.4(PITRM1):c.3048C>T (p.His1016=)	PITRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2974243	NM_014889.4(PITRM1):c.3045A>G (p.Thr1015=)	PITRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1600998	NM_014889.4(PITRM1):c.3039G>A (p.Lys1013=)	PITRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1452057	NM_014889.4(PITRM1):c.3027C>T (p.Leu1009=)	PITRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1600344	NM_014889.4(PITRM1):c.3021A>G (p.Arg1007=)	PITRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1652564	NM_014889.4(PITRM1):c.3021-18C>T	PITRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1987386	NM_014889.4(PITRM1):c.3020+14G>A	PITRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2978882	NM_014889.4(PITRM1):c.3020+10G>A	PITRM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1435139	NM_014889.4(PITRM1):c.3016G>C (p.Asp1006His)	PITRM1 (D735H +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3213295	NM_014889.4(PITRM1):c.3010G>A (p.Val1004Met)	PITRM1 (V1004M +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2077496	NM_014889.4(PITRM1):c.3007G>A (p.Ala1003Thr)	PITRM1 (A732T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 725162	NM_014889.4(PITRM1):c.3006G>A (p.Leu1002=)	PITRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3213294	NM_014889.4(PITRM1):c.2995G>C (p.Asp999His)	PITRM1 (D901H +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213293	NM_014889.4(PITRM1):c.2995G>A (p.Asp999Asn)	PITRM1 (D1000N +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1992536	NM_014889.4(PITRM1):c.2991C>T (p.Ser997=)	PITRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2491968	NM_014889.4(PITRM1):c.2990G>C (p.Ser997Thr)	PITRM1 (S562T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1415639	NM_014889.4(PITRM1):c.2990G>A (p.Ser997Asn)	PITRM1 (S923N +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1508685	NM_014889.4(PITRM1):c.2986G>C (p.Val996Leu)	PITRM1 (V898L +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2015316	NM_014889.4(PITRM1):c.2960_2963del (p.Gln987fs)	PITRM1 (Q987fs +8 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1419956	NM_014889.4(PITRM1):c.2945C>T (p.Ser982Leu)	PITRM1 (S777L +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1467398	NM_014889.4(PITRM1):c.2920A>G (p.Met974Val)	PITRM1 (M539V +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1566181	NM_014889.4(PITRM1):c.2906C>T (p.Pro969Leu)	PITRM1 (P534L +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2287335	NM_014889.4(PITRM1):c.2903C>T (p.Ala968Val)	PITRM1 (A697V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2709166	NM_014889.4(PITRM1):c.2901C>T (p.Val967=)	PITRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1487451	NM_014889.4(PITRM1):c.2893G>A (p.Ala965Thr)	PITRM1 (A760T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1600719	NM_014889.4(PITRM1):c.2887G>A (p.Val963Ile)	PITRM1 (V528I +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1879129	NM_014889.4(PITRM1):c.2886C>T (p.Thr962=)	PITRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2202025	NM_014889.4(PITRM1):c.2860G>A (p.Glu954Lys)	PITRM1 (E749K +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2072995	NM_014889.4(PITRM1):c.2859C>T (p.Asp953=)	PITRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2200763	NM_014889.4(PITRM1):c.2856C>T (p.Ile952=)	PITRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 774555	NM_014889.4(PITRM1):c.2856C>G (p.Ile952Met)	PITRM1 (I854M +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1962151	NM_014889.4(PITRM1):c.2841C>T (p.Phe947=)	PITRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1360275	NM_014889.4(PITRM1):c.2827A>G (p.Lys943Glu)	PITRM1 (K943E +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1412231	NM_014889.4(PITRM1):c.2825C>T (p.Ala942Val)	PITRM1 (A671V +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2201666	NM_014889.4(PITRM1):c.2818G>A (p.Asp940Asn)	PITRM1 (D735N +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2208825	NM_014889.4(PITRM1):c.2806G>A (p.Gly936Arg)	PITRM1 (G731R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306743	NM_014889.4(PITRM1):c.2804T>C (p.Phe935Ser)	PITRM1 (F500S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213292	NM_014889.4(PITRM1):c.2804T>G (p.Phe935Cys)	PITRM1 (F730C +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1175724	NM_014889.4(PITRM1):c.2792C>T (p.Thr931Met)	PITRM1 (T931M +8 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia, autosomal recessive 30	GPathogenic
Select item 3213291	NM_014889.4(PITRM1):c.2779A>G (p.Asn927Asp)	PITRM1 (N919D +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1498168	NM_014889.4(PITRM1):c.2777C>T (p.Pro926Leu)	PITRM1 (P852L +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2180992	NM_014889.4(PITRM1):c.2769C>T (p.Tyr923=)	PITRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2205159	NM_014889.4(PITRM1):c.2767T>G (p.Tyr923Asp)	PITRM1 (Y488D +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1990471	NM_014889.4(PITRM1):c.2727C>T (p.Gly909=)	PITRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1899264	NM_014889.4(PITRM1):c.2710G>A (p.Gly904Ser)	PITRM1 (G469S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 714094	NM_014889.4(PITRM1):c.2709C>T (p.Gly903=)	PITRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2969492	NM_014889.4(PITRM1):c.2688T>C (p.His896=)	PITRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2404721	NM_014889.4(PITRM1):c.2684T>G (p.Leu895Trp)	PITRM1 (L624W +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515890	NM_014889.4(PITRM1):c.2663G>A (p.Arg888His)	PITRM1 (R453H +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1990148	NM_014889.4(PITRM1):c.2660C>T (p.Ala887Val)	PITRM1 (A452V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 684532	NM_014889.4(PITRM1):c.2647C>T (p.Leu883Phe)	PITRM1 (L448F +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely 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 1640741	NM_014889.4(PITRM1):c.2645+9G>A	PITRM1, PITRM1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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)	not provided	GBenign
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 1347980	NM_014889.4(PITRM1):c.2617G>A (p.Val873Ile)	PITRM1, PITRM1-AS1 (V438I +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
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 2085793	NM_014889.4(PITRM1):c.2604A>C (p.Glu868Asp)	PITRM1, PITRM1-AS1 (E433D +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 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 2067441	NM_014889.4(PITRM1):c.2595C>T (p.Tyr865=)	PITRM1, PITRM1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 2084299	NM_014889.4(PITRM1):c.2533-9G>A	PITRM1, PITRM1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 1666348	NM_014889.4(PITRM1):c.2490C>G (p.Ala830=)	PITRM1, PITRM1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 disorder	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 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 3337460	NM_014889.4(PITRM1):c.2423del (p.Lys808fs)	PITRM1, PITRM1-AS1 (K373fs +8 more)	Deletion (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
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 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

<< First< Prev

Page of 4