Related gene-specific medical variations for Gene (Select 8295) - ClinVar

Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064776	NM_001375524.1(TRRAP):c.7021C>T (p.Arg2341Cys)	TRRAP (R2316C +2 more)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 3023695	NM_001375524.1(TRRAP):c.5088C>T (p.Asn1696=)	LOC126860121, TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011998	NM_001375524.1(TRRAP):c.5112C>A (p.Ala1704=)	LOC126860121, TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984886	NM_001375524.1(TRRAP):c.5254A>G (p.Ser1752Gly)	LOC126860121, TRRAP (S1727G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977913	NM_001375524.1(TRRAP):c.5283T>C (p.Phe1761=)	LOC126860121, TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975808	NM_001375524.1(TRRAP):c.5084C>G (p.Thr1695Ser)	LOC126860121, TRRAP (T1670S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960384	NM_001375524.1(TRRAP):c.4990C>T (p.Leu1664=)	LOC126860121, TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907742	NM_001375524.1(TRRAP):c.5022G>A (p.Leu1674=)	LOC126860121, TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905628	NM_001375524.1(TRRAP):c.5285G>A (p.Arg1762His)	LOC126860121, TRRAP (R1762H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902007	NM_001375524.1(TRRAP):c.4954-10T>C	LOC126860121, TRRAP	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2899129	NM_001375524.1(TRRAP):c.5181C>T (p.Ala1727=)	LOC126860121, TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890772	NM_001375524.1(TRRAP):c.5145C>T (p.Tyr1715=)	LOC126860121, TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2850904	NM_001375524.1(TRRAP):c.5290G>A (p.Val1764Ile)	LOC126860121, TRRAP (V1739I +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2806817	NM_001375524.1(TRRAP):c.5074A>C (p.Met1692Leu)	LOC126860121, TRRAP (M1667L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802329	NM_001375524.1(TRRAP):c.5096A>C (p.Glu1699Ala)	LOC126860121, TRRAP (E1692A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799909	NM_001375524.1(TRRAP):c.5238G>C (p.Glu1746Asp)	LOC126860121, TRRAP (E1739D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2769654	NM_001375524.1(TRRAP):c.5135+14C>T	LOC126860121, TRRAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2749593	NM_001375524.1(TRRAP):c.5082C>T (p.Ala1694=)	LOC126860121, TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2749587	NM_001375524.1(TRRAP):c.5121G>C (p.Leu1707=)	LOC126860121, TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747236	NM_001375524.1(TRRAP):c.5194T>C (p.Phe1732Leu)	LOC126860121, TRRAP (F1707L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721336	NM_001375524.1(TRRAP):c.4977C>T (p.Asn1659=)	LOC126860121, TRRAP	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2705899	NM_001375524.1(TRRAP):c.5302G>A (p.Asp1768Asn)	LOC126860121, TRRAP (D1743N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700731	NM_001375524.1(TRRAP):c.5111C>T (p.Ala1704Val)	LOC126860121, TRRAP (A1679V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672150	NM_001375524.1(TRRAP):c.2258C>T (p.Pro753Leu)	TRRAP (P753L)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 2582728	NM_001375524.1(TRRAP):c.6727T>C (p.Tyr2243His)	TRRAP (Y2218H +2 more)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 2582431	NM_001375524.1(TRRAP):c.11291C>T (p.Ala3764Val)	TRRAP (A3721V +2 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 75 +1 more	GUncertain significance
Select item 2579807	NM_001375524.1(TRRAP):c.5005T>A (p.Ser1669Thr)	LOC126860121, TRRAP (S1644T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573031	NM_001375524.1(TRRAP):c.10684C>G (p.Leu3562Val)	TRRAP (L3519V +2 more)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 2544433	NM_001375524.1(TRRAP):c.5147G>C (p.Gly1716Ala)	LOC126860121, TRRAP (G1691A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536790	NM_001375524.1(TRRAP):c.5305C>T (p.Pro1769Ser)	LOC126860121, TRRAP (P1762S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501495	NM_001375524.1(TRRAP):c.5039G>T (p.Ser1680Ile)	LOC126860121, TRRAP (S1655I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498330	NM_001375524.1(TRRAP):c.7143G>A (p.Trp2381Ter)	TRRAP (W2356* +2 more)	Single nucleotide variant (nonsense)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 2498014	NM_001375524.1(TRRAP):c.5023C>T (p.Arg1675Ter)	LOC126860121, TRRAP (R1650* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2442113	NM_001375524.1(TRRAP):c.4804A>G (p.Lys1602Glu)	TRRAP (K1577E +2 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 75 +1 more	GUncertain significance
Select item 2442046	NM_001375524.1(TRRAP):c.8750T>C (p.Met2917Thr)	TRRAP (M2892T +2 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 75 +1 more	GUncertain significance
Select item 2441838	NM_001375524.1(TRRAP):c.5974A>C (p.Met1992Leu)	TRRAP (M1967L +2 more)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism +1 more	GUncertain significance
Select item 2437379	NM_001375524.1(TRRAP):c.8167G>A (p.Glu2723Lys)	TRRAP (E2698K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437378	NM_001375524.1(TRRAP):c.2622+3A>G	TRRAP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2437375	NM_001375524.1(TRRAP):c.6083T>A (p.Ile2028Asn)	TRRAP (I2003N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437373	NM_001375524.1(TRRAP):c.5807C>T (p.Pro1936Leu)	TRRAP (P1911L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437372	NM_001375524.1(TRRAP):c.2143A>G (p.Lys715Glu)	TRRAP (K715E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437371	NM_001375524.1(TRRAP):c.6189G>C (p.Gln2063His)	TRRAP (Q2038H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437370	NM_001375524.1(TRRAP):c.11402A>G (p.Glu3801Gly)	TRRAP (E3758G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437369	NM_001375524.1(TRRAP):c.6485C>T (p.Thr2162Ile)	TRRAP (T2137I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437368	NM_001375524.1(TRRAP):c.610C>A (p.Arg204Ser)	TRRAP (R204S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437366	NM_001375524.1(TRRAP):c.6829G>A (p.Gly2277Arg)	TRRAP (G2252R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437365	NM_001375524.1(TRRAP):c.4130A>G (p.Asn1377Ser)	TRRAP (N1377S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437364	NM_001375524.1(TRRAP):c.4711C>T (p.Arg1571Ter)	TRRAP (R1546* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2437363	NM_001375524.1(TRRAP):c.979C>T (p.Leu327Phe)	TRRAP (L327F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437362	NM_001375524.1(TRRAP):c.2858_2860dup (p.Ala953_Asn954insThr)	TRRAP	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2437361	NM_001375524.1(TRRAP):c.4884G>C (p.Gln1628His)	TRRAP (Q1603H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437360	NM_001375524.1(TRRAP):c.1722G>T (p.Gln574His)	TRRAP (Q574H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437358	NM_001375524.1(TRRAP):c.1026G>C (p.Glu342Asp)	TRRAP (E342D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437357	NM_001375524.1(TRRAP):c.9128T>C (p.Ile3043Thr)	TRRAP (I3018T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437356	NM_001375524.1(TRRAP):c.366+2dup	TRRAP	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2437355	NM_001375524.1(TRRAP):c.8407G>A (p.Ala2803Thr)	TRRAP (A2778T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437352	NM_001375524.1(TRRAP):c.10993C>T (p.Leu3665Phe)	TRRAP (L3622F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437351	NM_001375524.1(TRRAP):c.2659A>G (p.Ile887Val)	TRRAP (I887V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431844	NM_001375524.1(TRRAP):c.5166C>A (p.Phe1722Leu)	LOC126860121, TRRAP (F1697L +2 more)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 2428509	NM_001375524.1(TRRAP):c.5273C>T (p.Ala1758Val)	LOC126860121, TRRAP (A1733V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420792	NM_001375524.1(TRRAP):c.5259C>T (p.Ile1753=)	LOC126860121, TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2297968	NM_001375524.1(TRRAP):c.5284C>T (p.Arg1762Cys)	LOC126860121, TRRAP (R1755C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2184212	NM_001375524.1(TRRAP):c.5298C>A (p.Phe1766Leu)	LOC126860121, TRRAP (F1759L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2106506	NM_001375524.1(TRRAP):c.5189G>A (p.Gly1730Asp)	LOC126860121, TRRAP (G1730D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2076221	NM_001375524.1(TRRAP):c.4954-3C>T	LOC126860121, TRRAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2067405	NM_001375524.1(TRRAP):c.5192G>A (p.Arg1731His)	LOC126860121, TRRAP (R1706H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064922	NM_001375524.1(TRRAP):c.5023C>A (p.Arg1675=)	LOC126860121, TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2060099	NM_001375524.1(TRRAP):c.5153T>C (p.Ile1718Thr)	LOC126860121, TRRAP (I1693T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2056068	NM_001375524.1(TRRAP):c.5260G>A (p.Ala1754Thr)	LOC126860121, TRRAP (A1747T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2050508	NM_001375524.1(TRRAP):c.5334+3G>A	LOC126860121, TRRAP	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2014686	NM_001375524.1(TRRAP):c.5223G>T (p.Glu1741Asp)	LOC126860121, TRRAP (E1741D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992404	NM_001375524.1(TRRAP):c.3479G>T (p.Gly1160Val)	TRRAP (G1160V)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GLikely pathogenic
Select item 1960726	NM_001375524.1(TRRAP):c.5248A>T (p.Asn1750Tyr)	LOC126860121, TRRAP (N1743Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956085	NM_001375524.1(TRRAP):c.5191C>T (p.Arg1731Cys)	LOC126860121, TRRAP (R1724C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939807	NM_001375524.1(TRRAP):c.5163G>A (p.Leu1721=)	LOC126860121, TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1939167	NM_001375524.1(TRRAP):c.5292A>G (p.Val1764=)	LOC126860121, TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911845	NM_001375524.1(TRRAP):c.5070G>A (p.Glu1690=)	LOC126860121, TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903865	NM_001375524.1(TRRAP):c.5136-20T>G	LOC126860121, TRRAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899062	NM_001375524.1(TRRAP):c.5136-22TCT[2]	LOC126860121, TRRAP	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1809820	NM_001375524.1(TRRAP):c.5137A>G (p.Arg1713Gly)	LOC126860121, TRRAP (R1688G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1720803	NM_001375524.1(TRRAP):c.5256C>A (p.Ser1752Arg)	LOC126860121, TRRAP (S1727R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1716891	NM_001375524.1(TRRAP):c.4985C>G (p.Ser1662Cys)	LOC126860121, TRRAP (S1637C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696689	NM_001375524.1(TRRAP):c.9172A>T (p.Ser3058Cys)	TRRAP (S3033C +2 more)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 1690661	NM_001375524.1(TRRAP):c.5049C>G (p.Phe1683Leu)	LOC126860121, TRRAP (F1658L +2 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1487642	NM_001375524.1(TRRAP):c.5314G>A (p.Gly1772Arg)	LOC126860121, TRRAP (G1772R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310761	NM_001375524.1(TRRAP):c.4967T>C (p.Ile1656Thr)	LOC126860121, TRRAP (I1631T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1174113	NM_001375524.1(TRRAP):c.9964C>T (p.Arg3322Ter)	TRRAP (R3279* +2 more)	Single nucleotide variant (nonsense)	Global developmental delay	GUncertain significance
Select item 978129	NM_001375524.1(TRRAP):c.6149C>T (p.Ser2050Leu)	TRRAP (S2025L +2 more)	Single nucleotide variant (missense variant)	Autism +1 more	GUncertain significance
Select item 975628	NM_001375524.1(TRRAP):c.9952A>G (p.Met3318Val)	TRRAP (M3275V +2 more)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism +1 more	GLikely pathogenic
Select item 161616	NM_001375524.1(TRRAP):c.8474A>G (p.Gln2825Arg)	TRRAP (Q2800R +2 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance

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Links from Gene

Items: 90