"PITRM1-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1628450	NM_014889.4(PITRM1):c.3049G>A (p.Gly1017Ser)	PITRM1 (G1009S +8 more)	Single nucleotide variant (missense variant +1 more)	PITRM1-related disorder +1 more	GBenign
Select item 1600998	NM_014889.4(PITRM1):c.3039G>A (p.Lys1013=)	PITRM1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
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 +1 more	GBenign
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 +1 more	GBenign
Select item 714094	NM_014889.4(PITRM1):c.2709C>T (p.Gly903=)	PITRM1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
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 +1 more	GBenign/Likely 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 +1 more	GBenign
Select item 1666348	NM_014889.4(PITRM1):c.2490C>G (p.Ala830=)	PITRM1, PITRM1-AS1	Single nucleotide variant (synonymous variant +1 more)	PITRM1-related disorder +1 more	GBenign
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 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 disorder +1 more	GBenign
Select item 715910	NM_014889.4(PITRM1):c.2223C>T (p.Ser741=)	PITRM1, PITRM1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2640281	NM_014889.4(PITRM1):c.1962C>T (p.Pro654=)	PITRM1, PITRM1-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1300268	NM_014889.4(PITRM1):c.1861G>A (p.Val621Ile)	PITRM1 (V186I +4 more)	Single nucleotide variant (missense variant +1 more)	PITRM1-related disorder +1 more	GBenign
Select item 1613440	NM_014889.4(PITRM1):c.1854C>G (p.Phe618Leu)	PITRM1 (F183L +4 more)	Single nucleotide variant (missense variant +1 more)	PITRM1-related disorder +1 more	GBenign
Select item 3043419	NM_014889.4(PITRM1):c.1848C>T (p.Pro616=)	PITRM1	Single nucleotide variant (synonymous variant +1 more)	PITRM1-related disorder	GLikely benign
Select item 2044730	NM_014889.4(PITRM1):c.1661C>A (p.Ala554Asp)	PITRM1 (A119D +4 more)	Single nucleotide variant (missense variant +1 more)	PITRM1-related disorder +1 more	GLikely benign
Select item 769361	NM_014889.4(PITRM1):c.1622-15_1622-3del	PITRM1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1545469	NM_014889.4(PITRM1):c.1533C>T (p.His511=)	PITRM1	Single nucleotide variant (synonymous variant +1 more)	PITRM1-related disorder +1 more	GBenign/Likely benign
Select item 2083507	NM_014889.4(PITRM1):c.1502C>T (p.Thr501Ile)	PITRM1 (T469I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 789609	NM_014889.4(PITRM1):c.1271G>A (p.Arg424Gln)	PITRM1 (R392Q +3 more)	Single nucleotide variant (missense variant +2 more)	PITRM1-related disorder +1 more	GBenign/Likely benign
Select item 1633957	NM_014889.4(PITRM1):c.1233G>A (p.Thr411=)	PITRM1	Single nucleotide variant (synonymous variant +2 more)	PITRM1-related disorder +1 more	GBenign
Select item 790078	NM_014889.4(PITRM1):c.1064C>G (p.Ser355Cys)	PITRM1 (S347C +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 708492	NM_014889.4(PITRM1):c.1008-9dup	PITRM1	Duplication (intron variant)	PITRM1-related disorder +1 more	GBenign
Select item 791629	NM_014889.4(PITRM1):c.791+9T>G	PITRM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2195673	NM_014889.4(PITRM1):c.533+7C>T	PITRM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1600892	NM_014889.4(PITRM1):c.506T>C (p.Phe169Ser)	PITRM1 (F137S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 1592796	NM_014889.4(PITRM1):c.433C>G (p.Leu145Val)	PITRM1 (L113V +2 more)	Single nucleotide variant (missense variant +3 more)	PITRM1-related disorder +1 more	GBenign
Select item 1546017	NM_014889.4(PITRM1):c.327C>T (p.Thr109=)	PITRM1	Single nucleotide variant (synonymous variant +2 more)	PITRM1-related disorder +1 more	GBenign
Select item 2498457	NM_014889.4(PITRM1):c.95G>A (p.Arg32Gln)	PITRM1 (R24Q +1 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GBenign/Likely benign
Select item 3041629	NM_014889.4(PITRM1):c.56+545C>G	PITRM1	Single nucleotide variant (intron variant)	PITRM1-related disorder	GBenign
Select item 768346	NM_014889.4(PITRM1):c.26G>T (p.Gly9Val)	LOC130003177, PITRM1 (G9V)	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GBenign
Select item 1571743	NM_014889.4(PITRM1):c.23A>G (p.Gln8Arg)	LOC130003177, PITRM1 (Q8R)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GBenign
Select item 3041420	NM_001242307.1(PITRM1):c.-11C>G	LOC130003177, PITRM1	Single nucleotide variant (5 prime UTR variant)	PITRM1-related disorder	GBenign

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Items: 33