Related gene-specific medical variations for Gene (Select 90381) - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2620572	NM_152259.4(TICRR):c.4945C>G (p.Pro1649Ala)	KIF7, TICRR (P1648A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613177	NM_152259.4(TICRR):c.4993G>T (p.Val1665Phe)	KIF7, TICRR (V1665F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593591	NM_152259.4(TICRR):c.4664G>A (p.Ser1555Asn)	KIF7, TICRR (S1555N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592046	NM_152259.4(TICRR):c.4012C>G (p.Leu1338Val)	KIF7, TICRR (L1337V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588831	NM_152259.4(TICRR):c.5687C>A (p.Thr1896Asn)	KIF7, TICRR (T1896N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2565242	NM_152259.4(TICRR):c.5483C>T (p.Thr1828Ile)	TICRR, KIF7 (T1828I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555927	NM_152259.4(TICRR):c.4807C>G (p.Pro1603Ala)	KIF7, TICRR (P1603A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553385	NM_152259.4(TICRR):c.4700C>T (p.Ala1567Val)	KIF7, TICRR (A1566V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536710	NM_152259.4(TICRR):c.5399G>A (p.Ser1800Asn)	KIF7, TICRR (S1799N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2532334	NM_152259.4(TICRR):c.5404A>T (p.Ser1802Cys)	KIF7, TICRR (S1802C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524619	NM_152259.4(TICRR):c.3179A>G (p.Gln1060Arg)	KIF7, TICRR (Q1059R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523007	NM_152259.4(TICRR):c.5249C>T (p.Ser1750Leu)	KIF7, TICRR (S1750L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521356	NM_152259.4(TICRR):c.5650A>T (p.Ser1884Cys)	KIF7, TICRR (S1883C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511908	NM_152259.4(TICRR):c.4244C>T (p.Ala1415Val)	KIF7, TICRR (A1414V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509727	NM_152259.4(TICRR):c.3616T>A (p.Phe1206Ile)	KIF7, TICRR (F1205I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495384	NM_152259.4(TICRR):c.3998C>G (p.Pro1333Arg)	KIF7, TICRR (P1332R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492651	NM_152259.4(TICRR):c.5170G>A (p.Gly1724Ser)	KIF7, TICRR (G1723S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2488993	NM_152259.4(TICRR):c.5266A>G (p.Met1756Val)	KIF7, TICRR (M1756V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2480407	NM_152259.4(TICRR):c.3227T>C (p.Met1076Thr)	KIF7, TICRR (M1075T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478101	NM_152259.4(TICRR):c.4626C>A (p.Asn1542Lys)	KIF7, TICRR (N1541K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477730	NM_152259.4(TICRR):c.4149A>C (p.Lys1383Asn)	KIF7, TICRR (K1383N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476985	NM_152259.4(TICRR):c.5089G>A (p.Gly1697Ser)	TICRR, KIF7 (G1697S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464566	NM_152259.4(TICRR):c.5072C>T (p.Ala1691Val)	KIF7, TICRR (A1691V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461302	NM_152259.4(TICRR):c.5119G>A (p.Ala1707Thr)	KIF7, TICRR (A1707T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2410938	NM_152259.4(TICRR):c.5300A>G (p.Gln1767Arg)	TICRR, KIF7 (Q1767R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410528	NM_152259.4(TICRR):c.5353C>T (p.Arg1785Cys)	TICRR, KIF7 (R1784C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2388055	NM_152259.4(TICRR):c.3826C>T (p.Arg1276Trp)	KIF7, TICRR (R1275W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385212	NM_152259.4(TICRR):c.4265A>T (p.Asp1422Val)	TICRR, KIF7 (D1421V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384506	NM_152259.4(TICRR):c.3490G>A (p.Gly1164Ser)	TICRR, KIF7 (G1163S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377357	NM_152259.4(TICRR):c.4813C>G (p.Leu1605Val)	TICRR, KIF7 (L1604V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369532	NM_152259.4(TICRR):c.2984T>C (p.Ile995Thr)	KIF7, TICRR (I994T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369442	NM_152259.4(TICRR):c.5086G>A (p.Ala1696Thr)	TICRR, KIF7 (A1695T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363763	NM_152259.4(TICRR):c.5591A>G (p.Lys1864Arg)	KIF7, TICRR (K1863R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360912	NM_152259.4(TICRR):c.4862A>G (p.Tyr1621Cys)	KIF7, TICRR (Y1620C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350768	NM_152259.4(TICRR):c.5003C>T (p.Thr1668Ile)	TICRR, KIF7 (T1667I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345979	NM_152259.4(TICRR):c.4568G>A (p.Arg1523His)	KIF7, TICRR (R1522H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343895	NM_152259.4(TICRR):c.5671C>T (p.Arg1891Cys)	KIF7, TICRR (R1891C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343829	NM_152259.4(TICRR):c.4043G>T (p.Ser1348Ile)	TICRR, KIF7 (S1348I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341996	NM_152259.4(TICRR):c.3035G>A (p.Arg1012Gln)	TICRR, KIF7 (R1011Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341783	NM_152259.4(TICRR):c.4684G>A (p.Glu1562Lys)	KIF7, TICRR (E1562K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335782	NM_152259.4(TICRR):c.3611C>T (p.Pro1204Leu)	TICRR, KIF7 (P1203L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323515	NM_152259.4(TICRR):c.5654G>A (p.Arg1885His)	KIF7, TICRR (R1884H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317817	NM_152259.4(TICRR):c.4921A>C (p.Thr1641Pro)	TICRR, KIF7 (T1641P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315556	NM_152259.4(TICRR):c.4997C>T (p.Pro1666Leu)	KIF7, TICRR (P1665L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300416	NM_152259.4(TICRR):c.4066C>T (p.Pro1356Ser)	TICRR, KIF7 (P1355S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294759	NM_152259.4(TICRR):c.116G>A (p.Gly39Asp)	LOC130057884, TICRR (G39D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294086	NM_152259.4(TICRR):c.4449A>C (p.Leu1483Phe)	TICRR, KIF7 (L1483F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286251	NM_152259.4(TICRR):c.5101G>T (p.Gly1701Trp)	KIF7, TICRR (G1701W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285781	NM_152259.4(TICRR):c.3695C>T (p.Ser1232Leu)	KIF7, TICRR (S1231L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252281	NM_152259.4(TICRR):c.4394C>T (p.Thr1465Ile)	KIF7, TICRR (T1465I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240171	NM_152259.4(TICRR):c.3290C>T (p.Ser1097Leu)	KIF7, TICRR (S1096L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229628	NM_152259.4(TICRR):c.52G>C (p.Ala18Pro)	LOC130057884, TICRR (A18P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215964	NM_152259.4(TICRR):c.5342A>G (p.Glu1781Gly)	KIF7, TICRR (E1781G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 786279	NM_152259.4(TICRR):c.5133G>C (p.Gly1711=)	KIF7, TICRR	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 768725	NM_152259.4(TICRR):c.4362T>C (p.Pro1454=)	KIF7, TICRR	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 748457	NM_152259.4(TICRR):c.5151G>A (p.Glu1717=)	KIF7, TICRR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 317341	NM_152259.4(TICRR):c.*911dup	KIF7, TICRR	Duplication (3 prime UTR variant)	Acrocallosal syndrome	GLikely benign

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Links from Gene

Items: 60