ClinVar for Gene (Select 8295) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384552	NM_001375524.1(TRRAP):c.5081C>T (p.Ala1694Val)	LOC126860121, TRRAP (A1669V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3384307	NM_001375524.1(TRRAP):c.7181C>G (p.Pro2394Arg)	TRRAP (P2369R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3383875	NM_001375524.1(TRRAP):c.2389C>G (p.Leu797Val)	TRRAP (L797V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3383658	NM_001375524.1(TRRAP):c.10928C>G (p.Ala3643Gly)	TRRAP (A3600G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3382568	NM_001375524.1(TRRAP):c.1159C>T (p.Arg387Cys)	TRRAP (R387C)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 3381665	NM_001375524.1(TRRAP):c.1963G>A (p.Val655Ile)	TRRAP (V655I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378249	NM_001375524.1(TRRAP):c.4252A>G (p.Ile1418Val)	TRRAP (I1418V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376440	NM_001375524.1(TRRAP):c.6709T>G (p.Ser2237Ala)	TRRAP (S2212A +2 more)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 3376327	NM_001375524.1(TRRAP):c.3811A>G (p.Thr1271Ala)	TRRAP (T1271A)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 3376225	NM_001375524.1(TRRAP):c.8596G>T (p.Val2866Leu)	TRRAP (V2841L +2 more)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 3376168	NM_001375524.1(TRRAP):c.1147G>A (p.Val383Met)	TRRAP (V383M)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 3375868	NM_001375524.1(TRRAP):c.3713T>A (p.Phe1238Tyr)	TRRAP (F1238Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375845	NM_001375524.1(TRRAP):c.520G>A (p.Glu174Lys)	TRRAP (E174K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375653	NM_001375524.1(TRRAP):c.1769T>G (p.Ile590Ser)	TRRAP (I590S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375542	NM_001375524.1(TRRAP):c.9917G>A (p.Arg3306Lys)	TRRAP (R3263K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375508	NM_001375524.1(TRRAP):c.5378A>G (p.Glu1793Gly)	TRRAP (E1768G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373750	NM_001375524.1(TRRAP):c.5536C>A (p.Leu1846Met)	TRRAP (L1821M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373500	NM_001375524.1(TRRAP):c.10501C>T (p.Pro3501Ser)	TRRAP (P3458S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373327	NM_001375524.1(TRRAP):c.5069A>G (p.Glu1690Gly)	LOC126860121, TRRAP (E1665G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372748	NM_001375524.1(TRRAP):c.5554C>A (p.His1852Asn)	TRRAP (H1827N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371623	NM_001375524.1(TRRAP):c.10383C>G (p.Ile3461Met)	TRRAP (I3418M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371453	NM_001375524.1(TRRAP):c.11020C>G (p.Pro3674Ala)	TRRAP (P3631A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371362	NM_001375524.1(TRRAP):c.8618A>G (p.Lys2873Arg)	TRRAP (K2848R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371122	NM_001375524.1(TRRAP):c.10145T>G (p.Leu3382Arg)	TRRAP (L3339R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370142	NM_001375524.1(TRRAP):c.9592G>A (p.Val3198Met)	TRRAP (V3173M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369800	NM_001375524.1(TRRAP):c.7219A>G (p.Met2407Val)	TRRAP (M2382V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3369791	NM_001375524.1(TRRAP):c.7237C>T (p.Arg2413Cys)	TRRAP (R2388C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369436	NM_001375524.1(TRRAP):c.6712A>C (p.Ser2238Arg)	TRRAP (S2213R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368605	NM_001375524.1(TRRAP):c.347T>G (p.Val116Gly)	TRRAP (V116G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367651	NM_001375524.1(TRRAP):c.11246T>G (p.Ile3749Ser)	TRRAP (I3706S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366198	NM_001375524.1(TRRAP):c.4280T>C (p.Met1427Thr)	TRRAP (M1427T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366162	NM_001375524.1(TRRAP):c.6629G>A (p.Cys2210Tyr)	TRRAP (C2185Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365617	NM_001375524.1(TRRAP):c.8372G>T (p.Gly2791Val)	TRRAP (G2766V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365276	NM_001375524.1(TRRAP):c.6745C>T (p.Leu2249Phe)	TRRAP (L2224F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364904	NM_001375524.1(TRRAP):c.2010T>G (p.Ile670Met)	TRRAP (I670M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364705	NM_001375524.1(TRRAP):c.4712G>C (p.Arg1571Pro)	TRRAP (R1546P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364529	NM_001375524.1(TRRAP):c.6904C>T (p.Arg2302Cys)	TRRAP (R2277C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364298	NM_001375524.1(TRRAP):c.4024T>A (p.Leu1342Met)	TRRAP (L1342M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364287	NM_001375524.1(TRRAP):c.4346C>T (p.Thr1449Ile)	TRRAP (T1449I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364269	NM_001375524.1(TRRAP):c.8257G>A (p.Asp2753Asn)	TRRAP (D2728N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362494	NM_001375524.1(TRRAP):c.2917G>T (p.Ala973Ser)	TRRAP (A973S)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 3362217	NM_001375524.1(TRRAP):c.3121T>C (p.Phe1041Leu)	TRRAP (F1041L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362165	NM_001375524.1(TRRAP):c.1774C>T (p.Leu592Phe)	TRRAP (L592F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361116	NM_001375524.1(TRRAP):c.2176G>C (p.Ala726Pro)	TRRAP (A726P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360989	NM_001375524.1(TRRAP):c.11546T>G (p.Val3849Gly)	TRRAP (V3806G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360883	NM_001375524.1(TRRAP):c.5860C>T (p.Arg1954Trp)	TRRAP (R1929W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360727	NM_001375524.1(TRRAP):c.922C>G (p.Gln308Glu)	TRRAP (Q308E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360485	NM_001375524.1(TRRAP):c.3368G>C (p.Ser1123Thr)	TRRAP (S1123T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360466	NM_001375524.1(TRRAP):c.8921T>C (p.Met2974Thr)	TRRAP (M2949T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360262	NM_001375524.1(TRRAP):c.9796C>T (p.Arg3266Trp)	TRRAP (R3241W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360254	NM_001375524.1(TRRAP):c.10777C>T (p.Pro3593Ser)	TRRAP (P3550S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360160	NM_001375524.1(TRRAP):c.11130A>C (p.Leu3710Phe)	TRRAP (L3667F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359929	NM_001375524.1(TRRAP):c.8998A>C (p.Met3000Leu)	TRRAP (M2975L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357953	NM_001375524.1(TRRAP):c.3913_3914del (p.Gln1305fs)	TRRAP (Q1305fs)	Microsatellite (frameshift variant)	TRRAP-related disorder	GUncertain significance
Select item 3353725	NM_001375524.1(TRRAP):c.1712G>C (p.Gly571Ala)	TRRAP (G571A)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 3353312	NM_001375524.1(TRRAP):c.9386A>G (p.Asn3129Ser)	TRRAP (N3104S +2 more)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 3352430	NM_001375524.1(TRRAP):c.5808G>A (p.Pro1936=)	TRRAP	Single nucleotide variant (synonymous variant)	TRRAP-related disorder	GLikely benign
Select item 3352398	NM_001375524.1(TRRAP):c.3131G>A (p.Ser1044Asn)	TRRAP (S1044N)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 3347159	NM_001375524.1(TRRAP):c.1857C>A (p.Asn619Lys)	TRRAP (N619K)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 3346828	NM_001375524.1(TRRAP):c.7210G>A (p.Val2404Met)	TRRAP (V2379M +2 more)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 3346665	NM_001375524.1(TRRAP):c.9059A>G (p.Asp3020Gly)	TRRAP (D2995G +2 more)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 3346530	NM_001375524.1(TRRAP):c.10475T>C (p.Val3492Ala)	TRRAP (V3449A +2 more)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 3345952	NM_001375524.1(TRRAP):c.2766_2774del (p.Ser923_Thr925del)	TRRAP	Deletion (inframe_deletion)	TRRAP-related disorder	GLikely pathogenic
Select item 3345693	NM_001375524.1(TRRAP):c.6673C>A (p.Arg2225Ser)	TRRAP (R2200S +2 more)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 3344556	NM_001375524.1(TRRAP):c.7287C>G (p.Asn2429Lys)	TRRAP (N2404K +2 more)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 3344317	NM_001375524.1(TRRAP):c.2507A>G (p.Asn836Ser)	TRRAP (N836S)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 3343775	NM_001375524.1(TRRAP):c.633+2dup	TRRAP	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 3343745	NM_001375524.1(TRRAP):c.7572G>C (p.Met2524Ile)	TRRAP (M2499I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343231	NM_001375524.1(TRRAP):c.9757G>A (p.Val3253Ile)	TRRAP (V3228I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342098	NM_001375524.1(TRRAP):c.3251C>G (p.Ser1084Trp)	TRRAP (S1084W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341303	NM_001375524.1(TRRAP):c.5054A>G (p.Glu1685Gly)	LOC126860121, TRRAP (E1660G +2 more)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 3338514	NM_001375524.1(TRRAP):c.5429A>G (p.Asn1810Ser)	TRRAP (N1785S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336002	NM_001375524.1(TRRAP):c.5206A>G (p.Met1736Val)	LOC126860121, TRRAP (M1711V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329367	NM_001375524.1(TRRAP):c.602A>G (p.Asn201Ser)	TRRAP (N201S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329365	NM_001375524.1(TRRAP):c.1219G>A (p.Asp407Asn)	TRRAP (D407N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329364	NM_001375524.1(TRRAP):c.236A>C (p.Gln79Pro)	TRRAP (Q79P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329363	NM_001375524.1(TRRAP):c.10508C>T (p.Pro3503Leu)	TRRAP (P3460L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329362	NM_001375524.1(TRRAP):c.7162A>G (p.Met2388Val)	TRRAP (M2381V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3329361	NM_001375524.1(TRRAP):c.7399G>A (p.Glu2467Lys)	TRRAP (E2467K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329360	NM_001375524.1(TRRAP):c.5114A>G (p.Tyr1705Cys)	LOC126860121, TRRAP (Y1698C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329359	NM_001375524.1(TRRAP):c.1846C>T (p.Arg616Cys)	TRRAP (R616C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329357	NM_001375524.1(TRRAP):c.3490A>G (p.Ile1164Val)	TRRAP (I1164V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3329356	NM_001375524.1(TRRAP):c.7606G>A (p.Asp2536Asn)	TRRAP (D2511N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3256977	NM_001375524.1(TRRAP):c.1432G>A (p.Gly478Arg)	TRRAP (G478R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3255216	NM_001375524.1(TRRAP):c.10913C>T (p.Ala3638Val)	TRRAP (A3595V +2 more)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 3255085	NM_001375524.1(TRRAP):c.10716G>T (p.Lys3572Asn)	TRRAP (K3529N +2 more)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 3255084	NM_001375524.1(TRRAP):c.1036C>T (p.Gln346Ter)	TRRAP (Q346*)	Single nucleotide variant (nonsense)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 3254930	NM_001375524.1(TRRAP):c.10922C>G (p.Thr3641Ser)	TRRAP (T3598S +2 more)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 3251540	NM_001375524.1(TRRAP):c.11312G>A (p.Arg3771Gln)	TRRAP (R3728Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251034	NM_001375524.1(TRRAP):c.10824G>A (p.Val3608=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3248559	NM_001375524.1(TRRAP):c.711+5G>A	TRRAP	Single nucleotide variant (intron variant)	Hearing loss, autosomal dominant 75	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3245879	NC_000007.13:g.(?_98478774)_(98602991_?)dup	TRRAP	Duplication	not provided	GUncertain significance
Select item 3245878	NC_000007.13:g.(?_98478774)_(98540660_?)dup	TRRAP	Duplication	not provided	GUncertain significance
Select item 3245876	NC_000007.13:g.(?_97816327)_(98493463_?)dup	BAIAP2L1, BHLHA15 +6 more	Duplication	not provided	GUncertain significance
Select item 3245875	NC_000007.13:g.(?_98487938)_(98488088_?)del	TRRAP	Deletion	not provided	GUncertain significance
Select item 3242182	NM_001375524.1(TRRAP):c.8227A>G (p.Ser2743Gly)	TRRAP (S2718G +2 more)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 3242038	NM_001375524.1(TRRAP):c.9763C>T (p.Arg3255Cys)	TRRAP (R3230C +2 more)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 3242012	NM_001375524.1(TRRAP):c.8786T>A (p.Leu2929Gln)	TRRAP (L2904Q +2 more)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 3238791	NM_001375524.1(TRRAP):c.5810C>T (p.Ala1937Val)	TRRAP (A1912V +2 more)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance

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