9928[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC120893174, LOC122149340 +166 more	Copy number loss	See cases	GPathogenic
Select item 1283604	NM_014875.3(KIF14):c.*247C>T	KIF14	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1265811	NM_014875.3(KIF14):c.*231G>A	KIF14	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1286174	NM_014875.3(KIF14):c.*165T>A	KIF14	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2910905	NM_014875.3(KIF14):c.4944G>A (p.Val1648=)	KIF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739562	NM_014875.3(KIF14):c.4944G>T (p.Val1648=)	KIF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3114469	NM_014875.3(KIF14):c.4942G>A (p.Val1648Met)	KIF14 (V1157M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322591	NM_014875.3(KIF14):c.4922C>T (p.Thr1641Ile)	KIF14 (T1150I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1983060	NM_014875.3(KIF14):c.4896_4897delinsTG (p.Pro1633Ala)	KIF14 (P1142A +1 more)	Indel (missense variant)	not provided	GLikely benign
Select item 1223272	NM_014875.3(KIF14):c.4897C>G (p.Pro1633Ala)	KIF14 (P1142A +1 more)	Single nucleotide variant (missense variant)	Microcephaly 20, primary, autosomal recessive +2 more	GBenign
Select item 3039913	NM_014875.3(KIF14):c.4884C>T (p.Leu1628=)	KIF14	Single nucleotide variant (synonymous variant)	KIF14-related disorder	GLikely benign
Select item 2380083	NM_014875.3(KIF14):c.4877A>G (p.Tyr1626Cys)	KIF14 (Y1135C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1697001	NM_014875.3(KIF14):c.4871G>A (p.Arg1624His)	KIF14 (R1133H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2331290	NM_014875.3(KIF14):c.4870C>T (p.Arg1624Cys)	KIF14 (R1624C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231744	NM_014875.3(KIF14):c.4862T>C (p.Val1621Ala)	KIF14 (V1621A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544399	NM_014875.3(KIF14):c.4844G>A (p.Gly1615Asp)	KIF14 (G1615D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 740813	NM_014875.3(KIF14):c.4843G>A (p.Gly1615Ser)	KIF14 (G1124S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 721215	NM_014875.3(KIF14):c.4842C>T (p.Asp1614=)	KIF14	Single nucleotide variant (synonymous variant)	Microcephaly 20, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 2274215	NM_014875.3(KIF14):c.4804A>C (p.Lys1602Gln)	KIF14 (K1602Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3006607	NM_014875.3(KIF14):c.4790A>G (p.Tyr1597Cys)	KIF14 (Y1106C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 435618	NM_014875.3(KIF14):c.4782G>C (p.Trp1594Cys)	KIF14 (W1594C +1 more)	Single nucleotide variant (missense variant)	KIF14-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2255438	NM_014875.3(KIF14):c.4742G>T (p.Cys1581Phe)	KIF14 (C1090F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2107972	NM_014875.3(KIF14):c.4741del (p.Cys1581fs)	KIF14 (C1581fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2491457	NM_014875.3(KIF14):c.4690A>G (p.Thr1564Ala)	KIF14 (T1564A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639716	NM_014875.3(KIF14):c.4677T>C (p.Tyr1559=)	KIF14	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2055338	NM_014875.3(KIF14):c.4672A>G (p.Ser1558Gly)	KIF14 (S1067G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3288290	NM_014875.3(KIF14):c.4657T>G (p.Ser1553Ala)	KIF14 (S1553A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114468	NM_014875.3(KIF14):c.4631A>T (p.Asp1544Val)	KIF14 (D1053V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 722149	NM_014875.3(KIF14):c.4614T>C (p.Ile1538=)	KIF14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2433121	NM_014875.3(KIF14):c.4568-1G>T	KIF14	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1227065	NM_014875.3(KIF14):c.4567+82T>C	KIF14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243482	NM_014875.3(KIF14):c.4567+67dup	KIF14	Duplication (intron variant)	not provided	GBenign
Select item 2315026	NM_014875.3(KIF14):c.4556C>G (p.Ser1519Cys)	KIF14 (S1519C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1700821	NM_014875.3(KIF14):c.4506_4515delinsTTTAACCA (p.Glu1502fs)	KIF14 (E1011fs +1 more)	Indel (frameshift variant)	not specified +1 more	GUncertain significance
Select item 591755	NM_014875.3(KIF14):c.4509del (p.Phe1503_Leu1504insTer)	KIF14	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 591754	NM_014875.3(KIF14):c.4506_4507del (p.Glu1502fs)	KIF14 (E1502fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3288291	NM_014875.3(KIF14):c.4498G>T (p.Ala1500Ser)	KIF14 (A1009S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303345	NM_014875.3(KIF14):c.4496G>A (p.Arg1499His)	KIF14 (R1008H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3242257	NM_014875.3(KIF14):c.4475del (p.Asp1492fs)	KIF14 (D1001fs +1 more)	Deletion (frameshift variant)	Microcephaly 20, primary, autosomal recessive	GPathogenic
Select item 503571	NM_014875.3(KIF14):c.4432del (p.Ser1478fs)	KIF14 (S1478fs +1 more)	Deletion (frameshift variant)	Microcephaly 20, primary, autosomal recessive	GPathogenic
Select item 1929849	NM_014875.3(KIF14):c.4421C>T (p.Ser1474Leu)	KIF14 (S983L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3288294	NM_014875.3(KIF14):c.4420T>C (p.Ser1474Pro)	KIF14 (S983P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361007	NM_014875.3(KIF14):c.4410C>G (p.Ile1470Met)	KIF14 (I1470M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1030441	NM_014875.3(KIF14):c.4385G>A (p.Gly1462Glu)	KIF14 (G1462E +1 more)	Single nucleotide variant (missense variant)	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	GUncertain significance
Select item 3337217	NM_014875.3(KIF14):c.4363G>T (p.Glu1455Ter)	KIF14 (E1455* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1258655	NM_014875.3(KIF14):c.4353+118T>C	KIF14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1804913	NM_014875.3(KIF14):c.4353+7T>A	KIF14	Single nucleotide variant (intron variant)	Microcephaly 20, primary, autosomal recessive	GUncertain significance
Select item 426925	NM_014875.3(KIF14):c.4276A>C (p.Lys1426Gln)	KIF14 (K1426Q +1 more)	Single nucleotide variant (missense variant)	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome +1 more	GUncertain significance
Select item 2257306	NM_014875.3(KIF14):c.4261G>A (p.Val1421Ile)	KIF14 (V1421I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1033714	NM_014875.3(KIF14):c.4247C>A (p.Ala1416Asp)	KIF14 (A925D +1 more)	Single nucleotide variant (missense variant)	Microcephaly 20, primary, autosomal recessive	GUncertain significance
Select item 777981	NM_014875.3(KIF14):c.4244A>T (p.Asp1415Val)	KIF14 (D924V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1587591	NM_014875.3(KIF14):c.4231-14A>G	KIF14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221359	NM_014875.3(KIF14):c.4231-337T>C	KIF14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2372177	NM_014875.3(KIF14):c.4204G>A (p.Gly1402Ser)	KIF14 (G1402S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1471675	NM_014875.3(KIF14):c.4190A>C (p.His1397Pro)	KIF14 (H906P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438298	NM_014875.3(KIF14):c.4126C>G (p.Gln1376Glu)	KIF14 (Q1376E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2396293	NM_014875.3(KIF14):c.4096A>G (p.Met1366Val)	KIF14 (M1366V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064686	NM_014875.3(KIF14):c.4072G>A (p.Gly1358Arg)	KIF14 (G1358R +1 more)	Single nucleotide variant (missense variant)	Microcephaly 20, primary, autosomal recessive	GUncertain significance
Select item 1271498	NM_014875.3(KIF14):c.4071+188T>C	KIF14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2872766	NM_014875.3(KIF14):c.4071+12T>G	KIF14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 503567	NM_014875.3(KIF14):c.4071G>A (p.Gln1357=)	KIF14	Single nucleotide variant (synonymous variant)	Microcephaly 20, primary, autosomal recessive	GLikely pathogenic
Select item 1290903	NM_014875.3(KIF14):c.4020G>A (p.Glu1340=)	KIF14	Single nucleotide variant (synonymous variant)	Microcephaly 20, primary, autosomal recessive +2 more	GBenign
Select item 710395	NM_014875.3(KIF14):c.4013A>T (p.Glu1338Val)	KIF14 (E1338V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2229792	NM_014875.3(KIF14):c.4008A>T (p.Arg1336Ser)	KIF14 (R845S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2730367	NM_014875.3(KIF14):c.3994A>T (p.Thr1332Ser)	KIF14 (T841S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2539516	NM_014875.3(KIF14):c.3970T>C (p.Trp1324Arg)	KIF14 (W833R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550114	NM_014875.3(KIF14):c.3946C>A (p.Gln1316Lys)	KIF14 (Q825K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114466	NM_014875.3(KIF14):c.3924T>G (p.Ile1308Met)	KIF14 (I1308M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231386	NM_014875.3(KIF14):c.3905C>T (p.Ala1302Val)	KIF14 (A811V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1476965	NM_014875.3(KIF14):c.3902G>A (p.Arg1301Gln)	KIF14 (R810Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2614865	NM_014875.3(KIF14):c.3898G>C (p.Asp1300His)	KIF14 (D1300H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288299	NM_014875.3(KIF14):c.3892T>C (p.Ser1298Pro)	KIF14 (S1298P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075977	NM_014875.3(KIF14):c.3886+1G>A	KIF14	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2400036	NM_014875.3(KIF14):c.3862C>A (p.Gln1288Lys)	KIF14 (Q1288K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2639717	NM_014875.3(KIF14):c.3832C>T (p.Leu1278=)	KIF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2383461	NM_014875.3(KIF14):c.3830G>A (p.Gly1277Glu)	KIF14 (G1277E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 445909	NM_014875.3(KIF14):c.3808A>C (p.Ser1270Arg)	KIF14 (S1270R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3114464	NM_014875.3(KIF14):c.3758T>C (p.Phe1253Ser)	KIF14 (F762S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 711840	NM_014875.3(KIF14):c.3747G>A (p.Ser1249=)	KIF14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3337219	NM_014875.3(KIF14):c.3737T>C (p.Ile1246Thr)	KIF14 (I1246T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2287442	NM_014875.3(KIF14):c.3707C>T (p.Ser1236Phe)	KIF14 (S1236F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639718	NM_014875.3(KIF14):c.3705G>A (p.Glu1235=)	KIF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 503569	NM_014875.3(KIF14):c.3662G>T (p.Gly1221Val)	KIF14 (G1221V +1 more)	Single nucleotide variant (missense variant)	Microcephaly 20, primary, autosomal recessive	GPathogenic
Select item 1231535	NM_014875.3(KIF14):c.3661+154G>A	KIF14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237813	NM_014875.3(KIF14):c.3661+77C>T	KIF14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1484531	NM_014875.3(KIF14):c.3661+1G>T	KIF14	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 709847	NM_014875.3(KIF14):c.3651A>G (p.Ser1217=)	KIF14	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 720091	NM_014875.3(KIF14):c.3620A>G (p.Gln1207Arg)	KIF14 (Q1207R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2457747	NM_014875.3(KIF14):c.3593G>A (p.Arg1198Lys)	KIF14 (R1198K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 786806	NM_014875.3(KIF14):c.3589A>G (p.Arg1197Gly)	KIF14 (R706G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2639719	NM_014875.3(KIF14):c.3588C>T (p.Asn1196=)	KIF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609812	NM_014875.3(KIF14):c.3582G>A (p.Met1194Ile)	KIF14 (M1194I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1282152	NM_014875.3(KIF14):c.3566+47GT[10]	KIF14	Microsatellite (intron variant)	not provided	GBenign
Select item 1268592	NM_014875.3(KIF14):c.3566+47GT[9]	KIF14	Microsatellite (intron variant)	not provided	GBenign
Select item 2955216	NM_014875.3(KIF14):c.3566+15_3566+17del	KIF14	Deletion (intron variant)	not provided	GBenign
Select item 1468444	NM_014875.3(KIF14):c.3566+3A>G	KIF14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2280362	NM_014875.3(KIF14):c.3532A>G (p.Thr1178Ala)	KIF14 (T1178A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598431	NM_014875.3(KIF14):c.3526G>A (p.Asp1176Asn)	KIF14 (D685N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288286	NM_014875.3(KIF14):c.3485G>A (p.Gly1162Asp)	KIF14 (G1162D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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