KIF7[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057831, LOC130057832 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	ABHD2, ACAN +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	LOC130057938, LOC130057939 +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	LOC121530602, LOC121530603 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC129390732, LOC129390733 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC126862240, LOC126862241 +311 more	Copy number gain	See cases	GPathogenic
Select item 2369532	NM_152259.4(TICRR):c.2984T>C (p.Ile995Thr)	KIF7, TICRR (I994T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177368	NM_152259.4(TICRR):c.3022A>G (p.Ile1008Val)	KIF7, TICRR (I1008V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341996	NM_152259.4(TICRR):c.3035G>A (p.Arg1012Gln)	KIF7, TICRR (R1011Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177369	NM_152259.4(TICRR):c.3113G>A (p.Arg1038Gln)	KIF7, TICRR (R1037Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524619	NM_152259.4(TICRR):c.3179A>G (p.Gln1060Arg)	KIF7, TICRR (Q1059R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177370	NM_152259.4(TICRR):c.3188G>T (p.Arg1063Leu)	KIF7, TICRR (R1062L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480407	NM_152259.4(TICRR):c.3227T>C (p.Met1076Thr)	KIF7, TICRR (M1075T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240171	NM_152259.4(TICRR):c.3290C>T (p.Ser1097Leu)	KIF7, TICRR (S1096L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177371	NM_152259.4(TICRR):c.3320A>C (p.Lys1107Thr)	KIF7, TICRR (K1107T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177372	NM_152259.4(TICRR):c.3440C>G (p.Pro1147Arg)	KIF7, TICRR (P1147R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384506	NM_152259.4(TICRR):c.3490G>A (p.Gly1164Ser)	KIF7, TICRR (G1163S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177373	NM_152259.4(TICRR):c.3517A>G (p.Ile1173Val)	KIF7, TICRR (I1173V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 768724	NM_152259.4(TICRR):c.3598G>A (p.Gly1200Ser)	KIF7, TICRR (G1199S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2335782	NM_152259.4(TICRR):c.3611C>T (p.Pro1204Leu)	KIF7, TICRR (P1203L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509727	NM_152259.4(TICRR):c.3616T>A (p.Phe1206Ile)	KIF7, TICRR (F1205I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177374	NM_152259.4(TICRR):c.3627C>A (p.Asn1209Lys)	KIF7, TICRR (N1208K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177375	NM_152259.4(TICRR):c.3680C>A (p.Ala1227Asp)	KIF7, TICRR (A1227D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285781	NM_152259.4(TICRR):c.3695C>T (p.Ser1232Leu)	KIF7, TICRR (S1231L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177376	NM_152259.4(TICRR):c.3791A>G (p.Gln1264Arg)	KIF7, TICRR (Q1263R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388055	NM_152259.4(TICRR):c.3826C>T (p.Arg1276Trp)	KIF7, TICRR (R1275W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177378	NM_152259.4(TICRR):c.3847A>C (p.Lys1283Gln)	KIF7, TICRR (K1283Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177379	NM_152259.4(TICRR):c.3893C>T (p.Ser1298Leu)	KIF7, TICRR (S1298L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177380	NM_152259.4(TICRR):c.3920C>T (p.Thr1307Met)	KIF7, TICRR (T1306M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495384	NM_152259.4(TICRR):c.3998C>G (p.Pro1333Arg)	KIF7, TICRR (P1332R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592046	NM_152259.4(TICRR):c.4012C>G (p.Leu1338Val)	KIF7, TICRR (L1337V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343829	NM_152259.4(TICRR):c.4043G>T (p.Ser1348Ile)	KIF7, TICRR (S1348I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177382	NM_152259.4(TICRR):c.4045G>A (p.Val1349Ile)	KIF7, TICRR (V1348I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300416	NM_152259.4(TICRR):c.4066C>T (p.Pro1356Ser)	KIF7, TICRR (P1355S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477730	NM_152259.4(TICRR):c.4149A>C (p.Lys1383Asn)	KIF7, TICRR (K1383N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1301815	NM_152259.4(TICRR):c.4237A>C (p.Ser1413Arg)	KIF7, TICRR (S1412R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511908	NM_152259.4(TICRR):c.4244C>T (p.Ala1415Val)	KIF7, TICRR (A1414V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385212	NM_152259.4(TICRR):c.4265A>T (p.Asp1422Val)	KIF7, TICRR (D1421V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768725	NM_152259.4(TICRR):c.4362T>C (p.Pro1454=)	KIF7, TICRR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3177385	NM_152259.4(TICRR):c.4394C>G (p.Thr1465Ser)	KIF7, TICRR (T1464S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252281	NM_152259.4(TICRR):c.4394C>T (p.Thr1465Ile)	KIF7, TICRR (T1465I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177386	NM_152259.4(TICRR):c.4403G>A (p.Ser1468Asn)	KIF7, TICRR (S1467N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294086	NM_152259.4(TICRR):c.4449A>C (p.Leu1483Phe)	KIF7, TICRR (L1483F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177388	NM_152259.4(TICRR):c.4453G>A (p.Val1485Met)	KIF7, TICRR (V1484M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177389	NM_152259.4(TICRR):c.4498T>A (p.Ser1500Thr)	KIF7, TICRR (S1500T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177391	NM_152259.4(TICRR):c.4499C>T (p.Ser1500Phe)	KIF7, TICRR (S1499F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345979	NM_152259.4(TICRR):c.4568G>A (p.Arg1523His)	KIF7, TICRR (R1522H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478101	NM_152259.4(TICRR):c.4626C>A (p.Asn1542Lys)	KIF7, TICRR (N1541K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775360	NM_152259.4(TICRR):c.4650C>T (p.Ser1550=)	KIF7, TICRR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2593591	NM_152259.4(TICRR):c.4664G>A (p.Ser1555Asn)	KIF7, TICRR (S1555N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341783	NM_152259.4(TICRR):c.4684G>A (p.Glu1562Lys)	KIF7, TICRR (E1562K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553385	NM_152259.4(TICRR):c.4700C>T (p.Ala1567Val)	KIF7, TICRR (A1566V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555927	NM_152259.4(TICRR):c.4807C>G (p.Pro1603Ala)	KIF7, TICRR (P1603A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377357	NM_152259.4(TICRR):c.4813C>G (p.Leu1605Val)	KIF7, TICRR (L1604V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360912	NM_152259.4(TICRR):c.4862A>G (p.Tyr1621Cys)	KIF7, TICRR (Y1620C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177392	NM_152259.4(TICRR):c.4867T>C (p.Ser1623Pro)	KIF7, TICRR (S1623P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177393	NM_152259.4(TICRR):c.4883G>A (p.Arg1628His)	KIF7, TICRR (R1628H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317817	NM_152259.4(TICRR):c.4921A>C (p.Thr1641Pro)	KIF7, TICRR (T1641P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620572	NM_152259.4(TICRR):c.4945C>G (p.Pro1649Ala)	KIF7, TICRR (P1648A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613177	NM_152259.4(TICRR):c.4993G>T (p.Val1665Phe)	KIF7, TICRR (V1665F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315556	NM_152259.4(TICRR):c.4997C>T (p.Pro1666Leu)	KIF7, TICRR (P1665L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350768	NM_152259.4(TICRR):c.5003C>T (p.Thr1668Ile)	KIF7, TICRR (T1667I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464566	NM_152259.4(TICRR):c.5072C>T (p.Ala1691Val)	KIF7, TICRR (A1691V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369442	NM_152259.4(TICRR):c.5086G>A (p.Ala1696Thr)	KIF7, TICRR (A1695T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476985	NM_152259.4(TICRR):c.5089G>A (p.Gly1697Ser)	KIF7, TICRR (G1697S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286251	NM_152259.4(TICRR):c.5101G>T (p.Gly1701Trp)	KIF7, TICRR (G1701W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461302	NM_152259.4(TICRR):c.5119G>A (p.Ala1707Thr)	KIF7, TICRR (A1707T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 786279	NM_152259.4(TICRR):c.5133G>C (p.Gly1711=)	KIF7, TICRR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 748457	NM_152259.4(TICRR):c.5151G>A (p.Glu1717=)	KIF7, TICRR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2492651	NM_152259.4(TICRR):c.5170G>A (p.Gly1724Ser)	KIF7, TICRR (G1723S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3177394	NM_152259.4(TICRR):c.5198C>A (p.Pro1733His)	KIF7, TICRR (P1733H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523007	NM_152259.4(TICRR):c.5249C>T (p.Ser1750Leu)	KIF7, TICRR (S1750L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488993	NM_152259.4(TICRR):c.5266A>G (p.Met1756Val)	KIF7, TICRR (M1756V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2410938	NM_152259.4(TICRR):c.5300A>G (p.Gln1767Arg)	KIF7, TICRR (Q1767R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177395	NM_152259.4(TICRR):c.5324G>C (p.Arg1775Thr)	KIF7, TICRR (R1774T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215964	NM_152259.4(TICRR):c.5342A>G (p.Glu1781Gly)	KIF7, TICRR (E1781G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410528	NM_152259.4(TICRR):c.5353C>T (p.Arg1785Cys)	KIF7, TICRR (R1784C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2536710	NM_152259.4(TICRR):c.5399G>A (p.Ser1800Asn)	KIF7, TICRR (S1799N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2532334	NM_152259.4(TICRR):c.5404A>T (p.Ser1802Cys)	KIF7, TICRR (S1802C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177396	NM_152259.4(TICRR):c.5422A>G (p.Ser1808Gly)	KIF7, TICRR (S1807G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2565242	NM_152259.4(TICRR):c.5483C>T (p.Thr1828Ile)	KIF7, TICRR (T1828I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363763	NM_152259.4(TICRR):c.5591A>G (p.Lys1864Arg)	KIF7, TICRR (K1863R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521356	NM_152259.4(TICRR):c.5650A>T (p.Ser1884Cys)	KIF7, TICRR (S1883C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323515	NM_152259.4(TICRR):c.5654G>A (p.Arg1885His)	KIF7, TICRR (R1884H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343895	NM_152259.4(TICRR):c.5671C>T (p.Arg1891Cys)	KIF7, TICRR (R1891C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588831	NM_152259.4(TICRR):c.5687C>A (p.Thr1896Asn)	KIF7, TICRR (T1896N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 317341	NM_152259.4(TICRR):c.*911dup	KIF7, TICRR	Duplication (3 prime UTR variant)	Acrocallosal syndrome	GLikely benign
Select item 886085	NM_198525.3(KIF7):c.*381G>A	KIF7	Single nucleotide variant (3 prime UTR variant)	Acrocallosal syndrome	GUncertain significance
Select item 317342	NM_198525.3(KIF7):c.*344T>C	KIF7	Single nucleotide variant (3 prime UTR variant)	Acrocallosal syndrome	GBenign
Select item 1196922	NM_198525.3(KIF7):c.*254C>T	KIF7	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 317343	NM_198525.3(KIF7):c.*238C>T	KIF7	Single nucleotide variant (3 prime UTR variant)	Acrocallosal syndrome	GUncertain significance
Select item 317344	NM_198525.3(KIF7):c.*191T>A	KIF7	Single nucleotide variant (3 prime UTR variant)	Acrocallosal syndrome	GUncertain significance
Select item 887087	NM_198525.3(KIF7):c.*147G>T	KIF7	Single nucleotide variant (3 prime UTR variant)	Acrocallosal syndrome	GUncertain significance
Select item 887088	NM_198525.3(KIF7):c.*139C>T	KIF7	Single nucleotide variant (3 prime UTR variant)	Acrocallosal syndrome +1 more	GBenign
Select item 317345	NM_198525.3(KIF7):c.*133G>T	KIF7	Single nucleotide variant (3 prime UTR variant)	Acrocallosal syndrome	GUncertain significance
Select item 887089	NM_198525.3(KIF7):c.*92C>T	KIF7	Single nucleotide variant (3 prime UTR variant)	Acrocallosal syndrome	GUncertain significance
Select item 317346	NM_198525.3(KIF7):c.*87C>A	KIF7	Single nucleotide variant (3 prime UTR variant)	Acrocallosal syndrome	GUncertain significance

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