ClinVar for Gene (Select 9703) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3134324	NM_014680.5(BLTP2):c.7C>G (p.Leu3Val)	BLTP2, LOC130060560 (L3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134323	NM_014680.5(BLTP2):c.769G>A (p.Val257Met)	BLTP2 (V114M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134322	NM_014680.5(BLTP2):c.670G>T (p.Val224Leu)	BLTP2 (V224L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134321	NM_014680.5(BLTP2):c.6028G>A (p.Val2010Met)	BLTP2, SPAG5-AS1 (V1867M +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3134319	NM_014680.5(BLTP2):c.5930G>A (p.Ser1977Asn)	BLTP2, SPAG5-AS1 (S1834N +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3134318	NM_014680.5(BLTP2):c.5929A>T (p.Ser1977Cys)	BLTP2, SPAG5-AS1 (S1642C +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3134317	NM_014680.5(BLTP2):c.5614G>C (p.Glu1872Gln)	BLTP2 (E1196Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134316	NM_014680.5(BLTP2):c.5409C>G (p.Ile1803Met)	BLTP2 (I1468M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134315	NM_014680.5(BLTP2):c.5284A>G (p.Ile1762Val)	BLTP2 (I1761V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134314	NM_014680.5(BLTP2):c.5182A>G (p.Ile1728Val)	BLTP2 (I1053V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134312	NM_014680.5(BLTP2):c.5014A>G (p.Met1672Val)	BLTP2 (M996V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134311	NM_014680.5(BLTP2):c.4943G>A (p.Arg1648Gln)	BLTP2 (R972Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134310	NM_014680.5(BLTP2):c.4853C>A (p.Thr1618Lys)	BLTP2 (T1283K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134309	NM_014680.5(BLTP2):c.478A>C (p.Ser160Arg)	BLTP2 (S160R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3134308	NM_014680.5(BLTP2):c.473A>T (p.Gln158Leu)	BLTP2 (Q158L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134307	NM_014680.5(BLTP2):c.4649C>T (p.Thr1550Ile)	BLTP2 (T1215I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134306	NM_014680.5(BLTP2):c.4514G>A (p.Gly1505Asp)	BLTP2 (G1362D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134305	NM_014680.5(BLTP2):c.4288A>G (p.Thr1430Ala)	BLTP2 (T1287A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134304	NM_014680.5(BLTP2):c.379T>A (p.Leu127Met)	BLTP2 (L127M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3134303	NM_014680.5(BLTP2):c.3688C>T (p.Arg1230Trp)	BLTP2 (R1087W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134302	NM_014680.5(BLTP2):c.3566A>G (p.Asn1189Ser)	BLTP2 (N1046S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134301	NM_014680.5(BLTP2):c.34C>G (p.Leu12Val)	BLTP2, LOC130060560 (L12V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134300	NM_014680.5(BLTP2):c.337G>A (p.Ala113Thr)	BLTP2 (A113T)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3134299	NM_014680.5(BLTP2):c.3271T>C (p.Phe1091Leu)	BLTP2 (F1091L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134298	NM_014680.5(BLTP2):c.3263C>T (p.Ser1088Leu)	BLTP2 (S945L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134297	NM_014680.5(BLTP2):c.3232C>G (p.Pro1078Ala)	BLTP2 (P1078A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134296	NM_014680.5(BLTP2):c.3176G>A (p.Arg1059His)	BLTP2 (R1059H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134295	NM_014680.5(BLTP2):c.3139G>C (p.Gly1047Arg)	BLTP2 (G904R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134294	NM_014680.5(BLTP2):c.3110G>A (p.Arg1037His)	BLTP2 (R1037H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134293	NM_014680.5(BLTP2):c.3031T>C (p.Trp1011Arg)	BLTP2 (W1011R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134292	NM_014680.5(BLTP2):c.2806G>T (p.Ala936Ser)	BLTP2 (A261S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134291	NM_014680.5(BLTP2):c.2804A>C (p.Tyr935Ser)	BLTP2 (Y935S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134290	NM_014680.5(BLTP2):c.2747C>T (p.Ala916Val)	BLTP2 (A241V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134289	NM_014680.5(BLTP2):c.2727G>C (p.Gln909His)	BLTP2 (Q234H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134288	NM_014680.5(BLTP2):c.2629T>C (p.Phe877Leu)	BLTP2 (F542L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134287	NM_014680.5(BLTP2):c.2576C>T (p.Ala859Val)	BLTP2 (A184V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134286	NM_014680.5(BLTP2):c.2513T>C (p.Leu838Pro)	BLTP2 (L163P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134285	NM_014680.5(BLTP2):c.2438G>A (p.Arg813Gln)	BLTP2 (R478Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134284	NM_014680.5(BLTP2):c.2339A>G (p.Asn780Ser)	BLTP2 (N105S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134283	NM_014680.5(BLTP2):c.2316G>T (p.Glu772Asp)	BLTP2 (E97D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134282	NM_014680.5(BLTP2):c.2281C>T (p.Arg761Trp)	BLTP2 (R426W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134281	NM_014680.5(BLTP2):c.2248A>G (p.Ile750Val)	BLTP2 (I607V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134280	NM_014680.5(BLTP2):c.2224G>T (p.Ala742Ser)	BLTP2 (A67S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134279	NM_014680.5(BLTP2):c.2207G>A (p.Ser736Asn)	BLTP2 (S593N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134278	NM_014680.5(BLTP2):c.2200G>C (p.Glu734Gln)	BLTP2 (E59Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134277	NM_014680.5(BLTP2):c.2171C>A (p.Pro724His)	BLTP2 (P581H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134276	NM_014680.5(BLTP2):c.2152C>T (p.Arg718Cys)	BLTP2 (R383C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134275	NM_014680.5(BLTP2):c.1937T>C (p.Met646Thr)	BLTP2 (M646T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3134274	NM_014680.5(BLTP2):c.1874C>T (p.Thr625Met)	BLTP2 (T290M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3134273	NM_014680.5(BLTP2):c.1753A>G (p.Thr585Ala)	BLTP2 (T585A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134272	NM_014680.5(BLTP2):c.1729A>G (p.Lys577Glu)	BLTP2 (K434E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134271	NM_014680.5(BLTP2):c.1490T>C (p.Val497Ala)	BLTP2 (V162A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134270	NM_014680.5(BLTP2):c.142C>T (p.Arg48Cys)	BLTP2 (R48C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134269	NM_014680.5(BLTP2):c.1420G>T (p.Val474Leu)	BLTP2 (V139L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134268	NM_014680.5(BLTP2):c.1418G>A (p.Arg473His)	BLTP2 (R138H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134267	NM_014680.5(BLTP2):c.1280A>G (p.Asn427Ser)	BLTP2 (N92S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134266	NM_014680.5(BLTP2):c.1271C>T (p.Ser424Phe)	BLTP2 (S424F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134265	NM_014680.5(BLTP2):c.1114G>C (p.Val372Leu)	BLTP2 (V229L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134264	NM_014680.5(BLTP2):c.107G>A (p.Arg36Gln)	BLTP2 (R36Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134263	NM_014680.5(BLTP2):c.1037G>A (p.Ser346Asn)	BLTP2 (S11N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647596	NM_014680.5(BLTP2):c.336C>T (p.Ser112=)	BLTP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2647595	NM_014680.5(BLTP2):c.653C>T (p.Thr218Ile)	BLTP2 (T218I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2647594	NM_014680.5(BLTP2):c.3579C>G (p.Ala1193=)	BLTP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647593	NM_014680.5(BLTP2):c.4522A>G (p.Thr1508Ala)	BLTP2 (T1173A +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647592	NM_014680.5(BLTP2):c.4540C>T (p.Pro1514Ser)	BLTP2 (P1179S +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647591	NM_014680.5(BLTP2):c.6205G>A (p.Val2069Ile)	BLTP2, SPAG5-AS1 (V1393I +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2624413	NM_014680.5(BLTP2):c.2053A>G (p.Thr685Ala)	BLTP2 (T350A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624060	NM_014680.5(BLTP2):c.4927A>G (p.Thr1643Ala)	BLTP2 (T1500A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619656	NM_014680.5(BLTP2):c.905C>T (p.Thr302Ile)	BLTP2 (T302I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616740	NM_014680.5(BLTP2):c.1310C>T (p.Thr437Ile)	BLTP2 (T294I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613159	NM_014680.5(BLTP2):c.1571A>G (p.Asp524Gly)	BLTP2 (D381G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610347	NM_014680.5(BLTP2):c.5209C>G (p.Gln1737Glu)	BLTP2 (Q1062E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610003	NM_014680.5(BLTP2):c.3520C>T (p.His1174Tyr)	BLTP2 (H1174Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607778	NM_014680.5(BLTP2):c.4603A>G (p.Met1535Val)	BLTP2 (M1200V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599831	NM_014680.5(BLTP2):c.1177G>A (p.Ala393Thr)	BLTP2 (A250T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599546	NM_014680.5(BLTP2):c.981T>A (p.Asp327Glu)	BLTP2 (D327E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594091	NM_014680.5(BLTP2):c.4115G>A (p.Arg1372His)	BLTP2 (R1037H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 2560117	NM_014680.5(BLTP2):c.1610C>T (p.Thr537Ile)	BLTP2 (T394I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557947	NM_014680.5(BLTP2):c.3370C>T (p.Pro1124Ser)	BLTP2 (P449S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555966	NM_014680.5(BLTP2):c.5897A>G (p.Asn1966Ser)	BLTP2, SPAG5-AS1 (N1965S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2545012	NM_014680.5(BLTP2):c.3180G>T (p.Gln1060His)	BLTP2 (Q725H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544961	NM_014680.5(BLTP2):c.2978A>G (p.Glu993Gly)	BLTP2 (E318G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544499	NM_014680.5(BLTP2):c.3173G>A (p.Arg1058Gln)	BLTP2 (R1058Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541942	NM_014680.5(BLTP2):c.5129G>C (p.Arg1710Pro)	BLTP2 (R1035P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539204	NM_014680.5(BLTP2):c.4265C>T (p.Thr1422Ile)	BLTP2 (T1279I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535690	NM_014680.5(BLTP2):c.6440G>T (p.Cys2147Phe)	BLTP2, SPAG5-AS1 (C1472F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526470	NM_014680.5(BLTP2):c.2855G>T (p.Arg952Leu)	BLTP2 (R617L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521861	NM_014680.5(BLTP2):c.1639T>C (p.Ser547Pro)	BLTP2 (S404P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513930	NM_014680.5(BLTP2):c.5505G>A (p.Met1835Ile)	BLTP2 (M1500I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494667	NM_014680.5(BLTP2):c.2926C>G (p.Leu976Val)	BLTP2 (L301V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479025	NM_014680.5(BLTP2):c.2917C>G (p.Leu973Val)	BLTP2 (L830V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468136	NM_014680.5(BLTP2):c.3169C>T (p.Arg1057Cys)	BLTP2 (R1057C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459232	NM_014680.5(BLTP2):c.4213T>C (p.Cys1405Arg)	BLTP2 (C1070R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2425303	NC_000017.10:g.(?_26684694)_(27581367_?)dup	RAB34, RPL23A +29 more	Duplication	not provided	GUncertain significance
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 787644	NM_014680.5(BLTP2):c.2958T>G (p.His986Gln)	BLTP2 (H651Q +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 781856	NM_014680.5(BLTP2):c.2887C>T (p.Leu963=)	BLTP2	Single nucleotide variant (synonymous variant)	not provided	GBenign

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