TLN2[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 243

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57882	GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)x1	ADAM10, ALDH1A2 +163 more	Copy number loss	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 2613713	NM_015059.3(TLN2):c.31C>T (p.Arg11Cys)	TLN2 (R11C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 807272	NM_015059.3(TLN2):c.59A>G (p.Gln20Arg)	TLN2 (Q20R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2226754	NM_015059.3(TLN2):c.94C>G (p.Arg32Gly)	TLN2 (R32G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508529	NM_015059.3(TLN2):c.277C>T (p.Arg93Trp)	TLN2 (R93W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514692	NM_015059.3(TLN2):c.368T>C (p.Ile123Thr)	TLN2 (I123T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277179	NM_015059.3(TLN2):c.420A>C (p.Lys140Asn)	TLN2 (K140N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339912	NM_015059.3(TLN2):c.620A>T (p.Asp207Val)	TLN2 (D207V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771473	NM_015059.3(TLN2):c.661-8T>C	TLN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2262085	NM_015059.3(TLN2):c.839A>G (p.Lys280Arg)	TLN2 (K280R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351252	NM_015059.3(TLN2):c.865T>C (p.Cys289Arg)	TLN2 (C289R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515997	NM_015059.3(TLN2):c.904G>A (p.Val302Ile)	TLN2 (V302I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542387	NM_015059.3(TLN2):c.910C>T (p.Leu304Phe)	TLN2 (L304F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645406	NM_015059.3(TLN2):c.912C>T (p.Leu304=)	TLN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 800073	NM_015059.3(TLN2):c.984G>C (p.Leu328=)	TLN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2239290	NM_015059.3(TLN2):c.988C>T (p.Pro330Ser)	TLN2 (P330S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277412	NM_015059.3(TLN2):c.1082G>T (p.Arg361Leu)	TLN2 (R361L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749914	NM_015059.3(TLN2):c.1122G>A (p.Gly374=)	TLN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3177906	NM_015059.3(TLN2):c.1152A>C (p.Gln384His)	TLN2 (Q384H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177907	NM_015059.3(TLN2):c.1154C>G (p.Thr385Ser)	TLN2 (T385S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355342	NM_015059.3(TLN2):c.1204A>G (p.Ile402Val)	TLN2 (I402V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326376	NM_015059.3(TLN2):c.1205T>C (p.Ile402Thr)	TLN2 (I402T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326350	NM_015059.3(TLN2):c.1219C>A (p.Gln407Lys)	TLN2 (Q407K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177908	NM_015059.3(TLN2):c.1250A>G (p.Asp417Gly)	TLN2 (D417G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609781	NM_015059.3(TLN2):c.1277C>G (p.Ser426Cys)	TLN2 (S426C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177909	NM_015059.3(TLN2):c.1279G>A (p.Val427Ile)	TLN2 (V427I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314692	NM_015059.3(TLN2):c.1293G>C (p.Lys431Asn)	TLN2 (K431N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297751	NM_015059.3(TLN2):c.1322G>A (p.Arg441Gln)	TLN2 (R441Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645407	NM_015059.3(TLN2):c.1374G>A (p.Ser458=)	TLN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3177910	NM_015059.3(TLN2):c.1447A>T (p.Met483Leu)	TLN2 (M483L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177911	NM_015059.3(TLN2):c.1462A>G (p.Met488Val)	TLN2 (M488V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177912	NM_015059.3(TLN2):c.1468C>T (p.Pro490Ser)	TLN2 (P490S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645408	NM_015059.3(TLN2):c.1476C>T (p.Thr492=)	LOC121530585, TLN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2232209	NM_015059.3(TLN2):c.1522G>A (p.Ala508Thr)	LOC121530585, TLN2 (A508T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458749	NM_015059.3(TLN2):c.1562C>T (p.Ser521Leu)	LOC121530585, TLN2 (S521L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731028	NM_015059.3(TLN2):c.1638C>T (p.Ile546=)	TLN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2548220	NM_015059.3(TLN2):c.1649T>C (p.Val550Ala)	TLN2 (V550A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177913	NM_015059.3(TLN2):c.1712C>T (p.Thr571Ile)	TLN2 (T571I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488552	NM_015059.3(TLN2):c.1723G>C (p.Ala575Pro)	TLN2 (A575P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232968	NM_015059.3(TLN2):c.1763C>A (p.Thr588Lys)	TLN2 (T588K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326374	NM_015059.3(TLN2):c.1803G>A (p.Met601Ile)	TLN2 (M601I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407040	NM_015059.3(TLN2):c.1813G>T (p.Val605Leu)	TLN2 (V605L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509035	NM_015059.3(TLN2):c.1820G>A (p.Ser607Asn)	TLN2 (S607N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177914	NM_015059.3(TLN2):c.1846A>G (p.Arg616Gly)	TLN2 (R616G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177915	NM_015059.3(TLN2):c.1871A>C (p.Asp624Ala)	TLN2 (D624A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530249	NM_015059.3(TLN2):c.1872C>A (p.Asp624Glu)	TLN2 (D624E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456428	NM_015059.3(TLN2):c.1918G>A (p.Val640Ile)	TLN2 (V640I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399816	NM_015059.3(TLN2):c.1924A>G (p.Thr642Ala)	TLN2 (T642A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555637	NM_015059.3(TLN2):c.1997G>C (p.Arg666Pro)	TLN2 (R666P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524559	NM_015059.3(TLN2):c.2167G>A (p.Ala723Thr)	TLN2 (A723T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177916	NM_015059.3(TLN2):c.2188A>G (p.Ile730Val)	TLN2 (I730V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326364	NM_015059.3(TLN2):c.2200G>T (p.Val734Leu)	TLN2 (V734L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177917	NM_015059.3(TLN2):c.2219T>C (p.Ile740Thr)	TLN2 (I740T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399531	NM_015059.3(TLN2):c.2236G>A (p.Val746Met)	TLN2 (V746M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326372	NM_015059.3(TLN2):c.2242C>T (p.Arg748Cys)	TLN2 (R748C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177918	NM_015059.3(TLN2):c.2246C>T (p.Ser749Leu)	TLN2 (S749L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377804	NM_015059.3(TLN2):c.2255A>G (p.Asn752Ser)	TLN2 (N752S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261940	NM_015059.3(TLN2):c.2264G>A (p.Arg755His)	TLN2 (R755H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177919	NM_015059.3(TLN2):c.2309T>G (p.Val770Gly)	TLN2 (V770G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177920	NM_015059.3(TLN2):c.2312G>A (p.Ser771Asn)	TLN2 (S771N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459531	NM_015059.3(TLN2):c.2314G>A (p.Ala772Thr)	TLN2 (A772T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358427	NM_015059.3(TLN2):c.2326G>A (p.Val776Met)	TLN2 (V776M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326369	NM_015059.3(TLN2):c.2345A>G (p.His782Arg)	TLN2 (H782R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211147	NM_015059.3(TLN2):c.2365C>T (p.Arg789Trp)	TLN2 (R789W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326357	NM_015059.3(TLN2):c.2398C>T (p.Arg800Cys)	TLN2 (R800C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231258	NM_015059.3(TLN2):c.2399G>A (p.Arg800His)	TLN2 (R800H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530225	NM_015059.3(TLN2):c.2404G>A (p.Asp802Asn)	TLN2 (D802N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400722	NM_015059.3(TLN2):c.2437G>A (p.Glu813Lys)	TLN2 (E813K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720724	NM_015059.3(TLN2):c.2487G>A (p.Ala829=)	TLN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3177921	NM_015059.3(TLN2):c.2521A>G (p.Asn841Asp)	TLN2 (N841D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548569	NM_015059.3(TLN2):c.2546C>T (p.Ala849Val)	TLN2 (A849V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326349	NM_015059.3(TLN2):c.2551A>G (p.Ile851Val)	TLN2 (I851V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551044	NM_015059.3(TLN2):c.2558T>C (p.Met853Thr)	TLN2 (M853T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208054	NM_015059.3(TLN2):c.2571G>T (p.Lys857Asn)	TLN2 (K857N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507569	NM_015059.3(TLN2):c.2596T>G (p.Leu866Val)	TLN2 (L866V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177922	NM_015059.3(TLN2):c.2650C>T (p.Pro884Ser)	TLN2 (P884S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545975	NM_015059.3(TLN2):c.2664C>A (p.Asp888Glu)	TLN2 (D888E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277762	NM_015059.3(TLN2):c.2669A>G (p.Gln890Arg)	TLN2 (Q890R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288701	NM_015059.3(TLN2):c.2747T>C (p.Ile916Thr)	TLN2 (I916T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177923	NM_015059.3(TLN2):c.2753A>G (p.Asn918Ser)	TLN2 (N918S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492914	NM_015059.3(TLN2):c.2812T>A (p.Ser938Thr)	TLN2 (S938T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710297	NM_015059.3(TLN2):c.2812T>G (p.Ser938Ala)	TLN2 (S938A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2271163	NM_015059.3(TLN2):c.2813C>G (p.Ser938Cys)	TLN2 (S938C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177924	NM_015059.3(TLN2):c.2821G>A (p.Ala941Thr)	TLN2 (A941T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645409	NM_015059.3(TLN2):c.2865C>T (p.Val955=)	TLN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3326370	NM_015059.3(TLN2):c.2902C>G (p.Leu968Val)	TLN2 (L968V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326352	NM_015059.3(TLN2):c.2929G>T (p.Ala977Ser)	TLN2 (A977S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645410	NM_015059.3(TLN2):c.2937T>C (p.Ala979=)	TLN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3177925	NM_015059.3(TLN2):c.3025G>A (p.Ala1009Thr)	TLN2 (A1009T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223439	NM_015059.3(TLN2):c.3037G>A (p.Val1013Met)	TLN2 (V1013M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326353	NM_015059.3(TLN2):c.3052G>A (p.Ala1018Thr)	TLN2 (A1018T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645411	NM_015059.3(TLN2):c.3120G>A (p.Ser1040=)	TLN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2606905	NM_015059.3(TLN2):c.3131A>G (p.His1044Arg)	TLN2 (H1044R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371147	NM_015059.3(TLN2):c.3172A>G (p.Thr1058Ala)	TLN2 (T1058A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299915	NM_015059.3(TLN2):c.3211A>G (p.Met1071Val)	TLN2 (M1071V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315905	NM_015059.3(TLN2):c.3224A>C (p.Glu1075Ala)	TLN2 (E1075A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411371	NM_015059.3(TLN2):c.3254C>T (p.Thr1085Met)	TLN2 (T1085M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 755903	NM_015059.3(TLN2):c.3273G>A (p.Gln1091=)	TLN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2258803	NM_015059.3(TLN2):c.3275A>G (p.Asp1092Gly)	TLN2 (D1092G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 3