"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "KIF7"[g - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1167

<< First< Prev

Page of 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 768725	NM_152259.4(TICRR):c.4362T>C (p.Pro1454=)	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 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 2075304	NM_198525.3(KIF7):c.4025C>G (p.Pro1342Arg)	KIF7 (P1342R)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 2839002	NM_198525.3(KIF7):c.4023C>T (p.Asn1341=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 1413428	NM_198525.3(KIF7):c.4021A>C (p.Asn1341His)	KIF7 (N1341H)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1395211	NM_198525.3(KIF7):c.4016G>A (p.Arg1339Gln)	KIF7 (R1339Q)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +2 more	GUncertain significance
Select item 1523356	NM_198525.3(KIF7):c.4015C>T (p.Arg1339Trp)	KIF7 (R1339W)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1396140	NM_198525.3(KIF7):c.4007T>C (p.Ile1336Thr)	KIF7 (I1336T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1500996	NM_198525.3(KIF7):c.4004T>A (p.Met1335Lys)	KIF7 (M1335K)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 2828862	NM_198525.3(KIF7):c.4002del (p.Gly1334_Met1335insTer)	KIF7	Deletion (frameshift variant)	Acrocallosal syndrome	GUncertain significance
Select item 1471965	NM_198525.3(KIF7):c.3996_4000dup (p.Gly1334fs)	KIF7 (G1334fs)	Duplication (frameshift variant)	Acrocallosal syndrome	GUncertain significance
Select item 3017900	NM_198525.3(KIF7):c.3999G>A (p.Pro1333=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 129417	NM_198525.3(KIF7):c.3999G>C (p.Pro1333=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GBenign
Select item 194996	NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln)	KIF7 (P1333Q)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +1 more	GConflicting classifications of pathogenicity
Select item 30902	NM_198525.3(KIF7):c.3986_3997del (p.Arg1329_Ser1332del)	KIF7	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1442225	NM_198525.3(KIF7):c.3989G>A (p.Arg1330Gln)	KIF7 (R1330Q)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +1 more	GUncertain significance
Select item 2049595	NM_198525.3(KIF7):c.3986G>C (p.Arg1329Pro)	KIF7 (R1329P)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1432874	NM_198525.3(KIF7):c.3986G>A (p.Arg1329Gln)	KIF7 (R1329Q)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +2 more	GUncertain significance
Select item 2193570	NM_198525.3(KIF7):c.3985C>T (p.Arg1329Ter)	KIF7 (R1329*)	Single nucleotide variant (nonsense)	Acrocallosal syndrome	GUncertain significance
Select item 1656488	NM_198525.3(KIF7):c.3978G>C (p.Arg1326=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 1327739	NM_198525.3(KIF7):c.3977G>A (p.Arg1326Gln)	KIF7 (R1326Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1367738	NM_198525.3(KIF7):c.3976C>T (p.Arg1326Trp)	KIF7 (R1326W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1633478	NM_198525.3(KIF7):c.3975G>A (p.Arg1325=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 1371618	NM_198525.3(KIF7):c.3974G>A (p.Arg1325Gln)	KIF7 (R1325Q)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +2 more	GUncertain significance
Select item 888359	NM_198525.3(KIF7):c.3973C>T (p.Arg1325Trp)	KIF7 (R1325W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1100881	NM_198525.3(KIF7):c.3972C>G (p.Pro1324=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 531996	NM_198525.3(KIF7):c.3968A>G (p.Lys1323Arg)	KIF7 (K1323R)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1125669	NM_198525.3(KIF7):c.3966C>T (p.Ser1322=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 1599449	NM_198525.3(KIF7):c.3964T>C (p.Ser1322Pro)	KIF7 (S1322P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1509374	NM_198525.3(KIF7):c.3962T>C (p.Leu1321Ser)	KIF7 (L1321S)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 263153	NM_198525.3(KIF7):c.3960T>A (p.Pro1320=)	KIF7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 317349	NM_198525.3(KIF7):c.3957G>T (p.Gly1319=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GConflicting classifications of pathogenicity
Select item 1998363	NM_198525.3(KIF7):c.3955G>A (p.Gly1319Arg)	KIF7 (G1319R)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1664018	NM_198525.3(KIF7):c.3954T>C (p.Phe1318=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2185961	NM_198525.3(KIF7):c.3953T>C (p.Phe1318Ser)	KIF7 (F1318S)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 195000	NM_198525.3(KIF7):c.3944C>T (p.Pro1315Leu)	KIF7 (P1315L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1529274	NM_198525.3(KIF7):c.3942G>C (p.Leu1314=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GLikely benign
Select item 2065056	NM_198525.3(KIF7):c.3927G>A (p.Val1309=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 1621269	NM_198525.3(KIF7):c.3915G>A (p.Arg1305=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 194998	NM_198525.3(KIF7):c.3914G>A (p.Arg1305Gln)	KIF7 (R1305Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2886001	NM_198525.3(KIF7):c.3913C>A (p.Arg1305=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2195271	NM_198525.3(KIF7):c.3913C>T (p.Arg1305Trp)	KIF7 (R1305W)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +1 more	GUncertain significance
Select item 2021045	NM_198525.3(KIF7):c.3912G>C (p.Gly1304=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2043138	NM_198525.3(KIF7):c.3907G>C (p.Val1303Leu)	KIF7 (V1303L)	Single nucleotide variant (missense variant)	Hydrolethalus syndrome 2 +3 more	GUncertain significance
Select item 766967	NM_198525.3(KIF7):c.3906G>A (p.Leu1302=)	KIF7	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1625475	NM_198525.3(KIF7):c.3903C>G (p.Pro1301=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GLikely benign
Select item 885250	NM_198525.3(KIF7):c.3894G>A (p.Ala1298=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GConflicting classifications of pathogenicity
Select item 649419	NM_198525.3(KIF7):c.3893C>T (p.Ala1298Val)	KIF7 (A1298V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 760054	NM_198525.3(KIF7):c.3888G>A (p.Arg1296=)	KIF7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2069251	NM_198525.3(KIF7):c.3887G>A (p.Arg1296Gln)	KIF7 (R1296Q)	Single nucleotide variant (missense variant)	Hydrolethalus syndrome 2 +3 more	GUncertain significance
Select item 1991887	NM_198525.3(KIF7):c.3877C>T (p.Leu1293=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 1005771	NM_198525.3(KIF7):c.3874G>A (p.Glu1292Lys)	KIF7 (E1292K)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +2 more	GUncertain significance
Select item 885251	NM_198525.3(KIF7):c.3871G>A (p.Glu1291Lys)	KIF7 (E1291K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1553354	NM_198525.3(KIF7):c.3870C>T (p.Pro1290=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 516137	NM_198525.3(KIF7):c.3870C>G (p.Pro1290=)	KIF7	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1915581	NM_198525.3(KIF7):c.3866C>A (p.Ser1289Tyr)	KIF7 (S1289Y)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Al-Gazali type +2 more	GUncertain significance
Select item 1514790	NM_198525.3(KIF7):c.3866C>T (p.Ser1289Phe)	KIF7 (S1289F)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 2149915	NM_198525.3(KIF7):c.3851G>C (p.Gly1284Ala)	KIF7 (G1284A)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1565516	NM_198525.3(KIF7):c.3846G>A (p.Leu1282=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 596874	NM_198525.3(KIF7):c.3842G>T (p.Ser1281Ile)	KIF7 (S1281I)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1649559	NM_198525.3(KIF7):c.3840G>A (p.Ser1280=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 1405227	NM_198525.3(KIF7):c.3839C>T (p.Ser1280Leu)	KIF7 (S1280L)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 885252	NM_198525.3(KIF7):c.3835C>T (p.Arg1279Cys)	KIF7 (R1279C)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +2 more	GUncertain significance
Select item 386891	NM_198525.3(KIF7):c.3828C>T (p.Thr1276=)	KIF7	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2729474	NM_198525.3(KIF7):c.3825G>A (p.Leu1275=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2081344	NM_198525.3(KIF7):c.3816G>A (p.Pro1272=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 1549631	NM_198525.3(KIF7):c.3816G>T (p.Pro1272=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 1518378	NM_198525.3(KIF7):c.3815C>T (p.Pro1272Leu)	KIF7 (P1272L)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +2 more	GUncertain significance
Select item 1407079	NM_198525.3(KIF7):c.3812C>A (p.Ala1271Asp)	KIF7 (A1271D)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1014341	NM_198525.3(KIF7):c.3811G>A (p.Ala1271Thr)	KIF7 (A1271T)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 779450	NM_198525.3(KIF7):c.3810C>T (p.His1270=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 1192044	NM_198525.3(KIF7):c.3797G>A (p.Arg1266Gln)	KIF7 (R1266Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1894768	NM_198525.3(KIF7):c.3796C>T (p.Arg1266Trp)	KIF7 (R1266W)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 194999	NM_198525.3(KIF7):c.3795G>A (p.Thr1265=)	KIF7	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1023626	NM_198525.3(KIF7):c.3785G>T (p.Arg1262Leu)	KIF7 (R1262L)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 652558	NM_198525.3(KIF7):c.3784C>T (p.Arg1262Trp)	KIF7 (R1262W)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1508548	NM_198525.3(KIF7):c.3766_3783del (p.Glu1256_Thr1261del)	KIF7	Deletion (inframe_deletion)	Acrocallosal syndrome	GUncertain significance
Select item 1398722	NM_198525.3(KIF7):c.3782C>A (p.Thr1261Asn)	KIF7 (T1261N)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +1 more	GUncertain significance
Select item 1359164	NM_198525.3(KIF7):c.3765_3782del (p.Glu1256_Thr1261del)	KIF7	Deletion (inframe_deletion)	Acrocallosal syndrome	GUncertain significance
Select item 942013	NM_198525.3(KIF7):c.3778dup (p.Arg1260fs)	KIF7 (R1260fs)	Duplication (frameshift variant)	Acrocallosal syndrome +3 more	GUncertain significance
Select item 2062218	NM_198525.3(KIF7):c.3778C>T (p.Arg1260Cys)	KIF7 (R1260C)	Single nucleotide variant (missense variant)	Hydrolethalus syndrome 2 +2 more	GUncertain significance
Select item 1215057	NM_198525.3(KIF7):c.3761_3778del (p.Leu1254_Pro1259del)	KIF7	Deletion (inframe_deletion)	Acrocallosal syndrome +1 more	GUncertain significance
Select item 1582180	NM_198525.3(KIF7):c.3774C>A (p.Ala1258=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2263437	NM_198525.3(KIF7):c.3773C>A (p.Ala1258Asp)	KIF7 (A1258D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1714845	NM_198525.3(KIF7):c.3772G>A (p.Ala1258Thr)	KIF7 (A1258T)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1381123	NM_198525.3(KIF7):c.3754_3771dup (p.Ser1252_Gly1257dup)	KIF7	Duplication (inframe_insertion)	Acrocallosal syndrome +1 more	GUncertain significance
Select item 1932781	NM_198525.3(KIF7):c.3760dup (p.Leu1254fs)	KIF7 (L1254fs)	Duplication (frameshift variant)	Acrocallosal syndrome	GUncertain significance
Select item 2043405	NM_198525.3(KIF7):c.3760C>A (p.Leu1254Ile)	KIF7 (L1254I)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +1 more	GUncertain significance
Select item 1578120	NM_198525.3(KIF7):c.3759C>A (p.Pro1253=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GLikely benign
Select item 317350	NM_198525.3(KIF7):c.3759C>G (p.Pro1253=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GConflicting classifications of pathogenicity
Select item 1415888	NM_198525.3(KIF7):c.3755C>T (p.Ser1252Phe)	KIF7 (S1252F)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 729910	NM_198525.3(KIF7):c.3753G>A (p.Leu1251=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GLikely benign
Select item 595535	NM_198525.3(KIF7):c.3753G>T (p.Leu1251=)	KIF7	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2148114	NM_198525.3(KIF7):c.3744T>G (p.Leu1248=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2755612	NM_198525.3(KIF7):c.3742C>T (p.Leu1248Phe)	KIF7 (L1248F)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1971866	NM_198525.3(KIF7):c.3739G>A (p.Glu1247Lys)	KIF7 (E1247K)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 596870	NM_198525.3(KIF7):c.3738C>G (p.Pro1246=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 12