"PreventionGenetics, part of Exact Sciences"[submitter] AND "TRRAP"[ge - ClinVar

Search results

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2636996	NM_001375524.1(TRRAP):c.38A>C (p.Asp13Ala)	TRRAP (D13A)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 3041424	NM_001375524.1(TRRAP):c.49T>C (p.Leu17=)	TRRAP	Single nucleotide variant (synonymous variant)	TRRAP-related disorder	GLikely benign
Select item 2631205	NM_001375524.1(TRRAP):c.203G>A (p.Arg68Gln)	TRRAP (R68Q)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 2635618	NM_001375524.1(TRRAP):c.342G>T (p.Leu114Phe)	TRRAP (L114F)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 2058502	NM_001375524.1(TRRAP):c.531A>G (p.Gln177=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2194289	NM_001375524.1(TRRAP):c.540C>A (p.Pro180=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2627150	NM_001375524.1(TRRAP):c.619A>G (p.Ser207Gly)	TRRAP (S207G)	Single nucleotide variant (missense variant)	TRRAP-related disorder +1 more	GUncertain significance
Select item 1690872	NM_001375524.1(TRRAP):c.634-3C>T	TRRAP	Single nucleotide variant (intron variant)	TRRAP-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1907471	NM_001375524.1(TRRAP):c.660T>G (p.Leu220=)	TRRAP	Single nucleotide variant (synonymous variant)	TRRAP-related disorder +1 more	GLikely benign
Select item 2657699	NM_001375524.1(TRRAP):c.862T>C (p.Leu288=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2632476	NM_001375524.1(TRRAP):c.1036+1G>A	TRRAP	Single nucleotide variant (splice donor variant)	TRRAP-related disorder	GUncertain significance
Select item 1600310	NM_001375524.1(TRRAP):c.1115+6A>C	TRRAP	Single nucleotide variant (intron variant)	TRRAP-related disorder +1 more	GBenign/Likely benign
Select item 2418020	NM_001375524.1(TRRAP):c.1116-5C>T	TRRAP	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2170349	NM_001375524.1(TRRAP):c.1116-4G>A	TRRAP	Single nucleotide variant (intron variant)	TRRAP-related disorder +1 more	GLikely benign
Select item 2630119	NM_001375524.1(TRRAP):c.1227G>T (p.Glu409Asp)	TRRAP (E409D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2975659	NM_001375524.1(TRRAP):c.1351-5G>A	TRRAP	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2657700	NM_001375524.1(TRRAP):c.1500A>C (p.Pro500=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3054153	NM_001375524.1(TRRAP):c.1506T>C (p.Pro502=)	TRRAP	Single nucleotide variant (synonymous variant)	TRRAP-related disorder	GLikely benign
Select item 3050107	NM_001375524.1(TRRAP):c.1506T>A (p.Pro502=)	TRRAP	Single nucleotide variant (synonymous variant)	TRRAP-related disorder	GLikely benign
Select item 3038630	NM_001375524.1(TRRAP):c.1512T>G (p.Pro504=)	TRRAP	Single nucleotide variant (synonymous variant)	TRRAP-related disorder	GLikely benign
Select item 1519562	NM_001375524.1(TRRAP):c.2087G>A (p.Arg696His)	TRRAP (R696H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2635555	NM_001375524.1(TRRAP):c.2105C>A (p.Ser702Tyr)	TRRAP (S702Y)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 3030079	NM_001375524.1(TRRAP):c.2366-5C>G	TRRAP	Single nucleotide variant (intron variant)	TRRAP-related disorder	GLikely benign
Select item 2045602	NM_001375524.1(TRRAP):c.2601G>A (p.Pro867=)	TRRAP	Single nucleotide variant (synonymous variant)	TRRAP-related disorder +1 more	GBenign/Likely benign
Select item 2099740	NM_001375524.1(TRRAP):c.3253A>C (p.Lys1085Gln)	TRRAP (K1085Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2053328	NM_001375524.1(TRRAP):c.3592-6T>A	TRRAP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1558687	NM_001375524.1(TRRAP):c.4091C>T (p.Pro1364Leu)	TRRAP (P1364L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2163308	NM_001375524.1(TRRAP):c.4161C>T (p.Ile1387=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1315061	NM_001375524.1(TRRAP):c.4405-5A>G	TRRAP	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3036201	NM_001375524.1(TRRAP):c.4578C>T (p.Asn1526=)	TRRAP	Single nucleotide variant (synonymous variant)	TRRAP-related disorder	GLikely benign
Select item 1583405	NM_001375524.1(TRRAP):c.4656G>A (p.Ala1552=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2055184	NM_001375524.1(TRRAP):c.4671G>A (p.Ala1557=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2071845	NM_001375524.1(TRRAP):c.4685G>A (p.Arg1562Gln)	TRRAP (R1537Q +2 more)	Single nucleotide variant (missense variant)	TRRAP-related disorder +1 more	GUncertain significance
Select item 2902007	NM_001375524.1(TRRAP):c.4954-10T>C	LOC126860121, TRRAP	Single nucleotide variant (intron variant)	TRRAP-related disorder +1 more	GLikely benign
Select item 3040479	NM_001375524.1(TRRAP):c.5385G>A (p.Gly1795=)	TRRAP	Single nucleotide variant (synonymous variant)	TRRAP-related disorder	GLikely benign
Select item 3054579	NM_001375524.1(TRRAP):c.5431C>A (p.Pro1811Thr)	TRRAP (P1786T +2 more)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 1897706	NM_001375524.1(TRRAP):c.5454T>C (p.Phe1818=)	TRRAP	Single nucleotide variant (synonymous variant)	TRRAP-related disorder +1 more	GLikely benign
Select item 2741738	NM_001375524.1(TRRAP):c.5757C>T (p.His1919=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2636797	NM_001375524.1(TRRAP):c.6058G>A (p.Val2020Ile)	TRRAP (V1995I +2 more)	Single nucleotide variant (missense variant)	TRRAP-related disorder +1 more	GUncertain significance
Select item 724271	NM_001375524.1(TRRAP):c.6145G>A (p.Val2049Ile)	TRRAP (V2024I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2584944	NM_001375524.1(TRRAP):c.6199C>T (p.Arg2067Cys)	TRRAP (R2042C +2 more)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism +1 more	GUncertain significance
Select item 1672270	NM_001375524.1(TRRAP):c.6213C>G (p.Ala2071=)	TRRAP	Single nucleotide variant (synonymous variant)	TRRAP-related disorder +1 more	GBenign/Likely benign
Select item 2180884	NM_001375524.1(TRRAP):c.6216C>T (p.Thr2072=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1599685	NM_001375524.1(TRRAP):c.6381G>A (p.Glu2127=)	TRRAP	Single nucleotide variant (synonymous variant)	TRRAP-related disorder +1 more	GBenign/Likely benign
Select item 2629205	NM_001375524.1(TRRAP):c.6392G>A (p.Arg2131His)	TRRAP (R2106H +2 more)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 2636761	NM_001375524.1(TRRAP):c.6415A>T (p.Thr2139Ser)	TRRAP (T2114S +2 more)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 2635073	NM_001375524.1(TRRAP):c.6512A>G (p.Tyr2171Cys)	TRRAP (Y2146C +2 more)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 712664	NM_001375524.1(TRRAP):c.6528G>A (p.Thr2176=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2630262	NM_001375524.1(TRRAP):c.6642G>T (p.Lys2214Asn)	TRRAP (K2189N +2 more)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 3040097	NM_001375524.1(TRRAP):c.6684C>T (p.Ser2228=)	TRRAP	Single nucleotide variant (synonymous variant)	TRRAP-related disorder	GLikely benign
Select item 3029617	NM_001375524.1(TRRAP):c.6718G>T (p.Ala2240Ser)	TRRAP (A2215S +2 more)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 713101	NM_001375524.1(TRRAP):c.6759C>T (p.Val2253=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3032731	NM_001375524.1(TRRAP):c.6785C>A (p.Thr2262Asn)	TRRAP (T2237N +2 more)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 2791943	NM_001375524.1(TRRAP):c.6977-4G>A	TRRAP	Single nucleotide variant (intron variant)	TRRAP-related disorder +1 more	GBenign/Likely benign
Select item 1977932	NM_001375524.1(TRRAP):c.7131C>T (p.Ile2377=)	TRRAP	Single nucleotide variant (synonymous variant)	TRRAP-related disorder +1 more	GLikely benign
Select item 3051189	NM_001375524.1(TRRAP):c.7461G>A (p.Ser2487=)	TRRAP	Single nucleotide variant (synonymous variant)	TRRAP-related disorder	GLikely benign
Select item 2637267	NM_001375524.1(TRRAP):c.7652A>T (p.Gln2551Leu)	TRRAP (Q2526L +2 more)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 3048451	NM_001375524.1(TRRAP):c.7661G>A (p.Arg2554Gln)	TRRAP (R2529Q +2 more)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 778938	NM_001375524.1(TRRAP):c.7839+9G>A	TRRAP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2042864	NM_001375524.1(TRRAP):c.7859C>G (p.Ala2620Gly)	TRRAP (A2595G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3037851	NM_001375524.1(TRRAP):c.7944T>C (p.Ser2648=)	TRRAP	Single nucleotide variant (synonymous variant)	TRRAP-related disorder	GLikely benign
Select item 1906738	NM_001375524.1(TRRAP):c.7962A>G (p.Ala2654=)	TRRAP	Single nucleotide variant (synonymous variant)	TRRAP-related disorder +1 more	GLikely benign
Select item 2190674	NM_001375524.1(TRRAP):c.8274T>C (p.Leu2758=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2068929	NM_001375524.1(TRRAP):c.8355T>A (p.Ile2785=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 721022	NM_001375524.1(TRRAP):c.8415T>C (p.Asp2805=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 790356	NM_001375524.1(TRRAP):c.8634+7C>T	TRRAP	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2630423	NM_001375524.1(TRRAP):c.8976G>C (p.Leu2992Phe)	TRRAP (L2967F +2 more)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 2166447	NM_001375524.1(TRRAP):c.9202A>G (p.Ile3068Val)	TRRAP (I3068V +2 more)	Single nucleotide variant (missense variant)	TRRAP-related disorder +1 more	GUncertain significance
Select item 2636343	NM_001375524.1(TRRAP):c.9214T>A (p.Phe3072Ile)	TRRAP (F3047I +2 more)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 2140849	NM_001375524.1(TRRAP):c.9262G>A (p.Val3088Ile)	TRRAP (V3088I +2 more)	Single nucleotide variant (missense variant)	TRRAP-related disorder +1 more	GBenign/Likely benign
Select item 2052860	NM_001375524.1(TRRAP):c.9288+4C>A	TRRAP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2041898	NM_001375524.1(TRRAP):c.9780G>A (p.Ala3260=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2630167	NM_001375524.1(TRRAP):c.10431A>T (p.Glu3477Asp)	TRRAP (E3434D +2 more)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 2629653	NM_001375524.1(TRRAP):c.10635G>A (p.Met3545Ile)	TRRAP (M3502I +2 more)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 2020078	NM_001375524.1(TRRAP):c.10753+6G>T	TRRAP	Single nucleotide variant (intron variant)	TRRAP-related disorder +1 more	GLikely benign
Select item 2873321	NM_001375524.1(TRRAP):c.10754-3C>T	TRRAP	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2635441	NM_001375524.1(TRRAP):c.10876A>G (p.Ile3626Val)	TRRAP (I3583V +2 more)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 2394985	NM_001375524.1(TRRAP):c.11042C>T (p.Thr3681Met)	TRRAP (T3667M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 2919825	NM_001375524.1(TRRAP):c.11088G>A (p.Ala3696=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1306216	NM_001375524.1(TRRAP):c.11191G>A (p.Ala3731Thr)	TRRAP (A3688T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2673113	NM_001375524.1(TRRAP):c.11266A>G (p.Ile3756Val)	TRRAP (I3713V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2633734	NM_001375524.1(TRRAP):c.11282C>T (p.Pro3761Leu)	TRRAP (P3718L +2 more)	Single nucleotide variant (missense variant)	TRRAP-related disorder +1 more	GUncertain significance
Select item 2728212	NM_001375524.1(TRRAP):c.11283G>A (p.Pro3761=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2986782	NM_001375524.1(TRRAP):c.11307C>T (p.Val3769=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2054150	NM_001375524.1(TRRAP):c.11313G>T (p.Arg3771=)	TRRAP	Single nucleotide variant (synonymous variant)	TRRAP-related disorder +1 more	GLikely benign
Select item 3036167	NM_001375524.1(TRRAP):c.11409G>A (p.Thr3803=)	TRRAP	Single nucleotide variant (synonymous variant)	TRRAP-related disorder	GLikely benign
Select item 2197652	NM_001375524.1(TRRAP):c.11430C>T (p.Ala3810=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1922015	NM_001375524.1(TRRAP):c.11526C>T (p.Phe3842=)	TRRAP	Single nucleotide variant (synonymous variant)	TRRAP-related disorder +1 more	GLikely benign

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Items: 88