ClinVar for Gene (Select 8295) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3236152	NM_001375524.1(TRRAP):c.3530T>A (p.Leu1177His)	TRRAP (L1177H)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 3234038	NM_001375524.1(TRRAP):c.10873C>T (p.Pro3625Ser)	TRRAP (P3582S +2 more)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 3233901	NM_001375524.1(TRRAP):c.7147A>C (p.Lys2383Gln)	TRRAP (K2358Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183538	NM_001375524.1(TRRAP):c.9290G>C (p.Gly3097Ala)	TRRAP (G3101A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183537	NM_001375524.1(TRRAP):c.9289G>A (p.Gly3097Ser)	TRRAP (G3072S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183534	NM_001375524.1(TRRAP):c.7975A>G (p.Ile2659Val)	TRRAP (I2634V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3183533	NM_001375524.1(TRRAP):c.7816C>G (p.Leu2606Val)	TRRAP (L2599V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183531	NM_001375524.1(TRRAP):c.7361T>G (p.Leu2454Arg)	TRRAP (L2454R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183530	NM_001375524.1(TRRAP):c.6812A>G (p.Asn2271Ser)	TRRAP (N2246S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3183529	NM_001375524.1(TRRAP):c.6772T>C (p.Tyr2258His)	TRRAP (Y2251H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183528	NM_001375524.1(TRRAP):c.5689A>G (p.Ile1897Val)	TRRAP (I1890V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183527	NM_001375524.1(TRRAP):c.4786A>G (p.Met1596Val)	TRRAP (M1589V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183526	NM_001375524.1(TRRAP):c.3283G>A (p.Ala1095Thr)	TRRAP (A1095T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183524	NM_001375524.1(TRRAP):c.1743A>T (p.Leu581Phe)	TRRAP (L581F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183523	NM_001375524.1(TRRAP):c.11338-5C>T	TRRAP	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 3183522	NM_001375524.1(TRRAP):c.10858A>G (p.Ile3620Val)	TRRAP (I3606V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067669	NM_001375524.1(TRRAP):c.1566C>A (p.Ala522=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3062993	GRCh37/hg19 7q22.1(chr7:98400618-98684060)x3	SMURF1, TMEM130 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
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 3054153	NM_001375524.1(TRRAP):c.1506T>C (p.Pro502=)	TRRAP	Single nucleotide variant (synonymous variant)	TRRAP-related disorder	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 3050107	NM_001375524.1(TRRAP):c.1506T>A (p.Pro502=)	TRRAP	Single nucleotide variant (synonymous variant)	TRRAP-related disorder	GLikely benign

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