Related gene-specific medical variations for Gene (Select 126862216) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3018575	NM_198525.3(KIF7):c.3665-7A>G	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 3018559	NM_198525.3(KIF7):c.3366G>C (p.Ser1122=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2956663	NM_198525.3(KIF7):c.3664+12T>C	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2912907	NM_198525.3(KIF7):c.3433C>T (p.Gln1145Ter)	KIF7, LOC126862216 (Q1145*)	Single nucleotide variant (nonsense)	Acrocallosal syndrome	GPathogenic
Select item 2877064	NM_198525.3(KIF7):c.3600C>T (p.Tyr1200=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2840247	NM_198525.3(KIF7):c.3518-16G>T	LOC126862216, KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2832952	NM_198525.3(KIF7):c.3664+16G>C	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2810289	NM_198525.3(KIF7):c.3453C>T (p.Arg1151=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2718533	NM_198525.3(KIF7):c.3426G>A (p.Leu1142=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2695136	NM_198525.3(KIF7):c.3394C>T (p.Gln1132Ter)	KIF7, LOC126862216 (Q1132*)	Single nucleotide variant (nonsense)	Acrocallosal syndrome	GPathogenic
Select item 2672596	NM_198525.3(KIF7):c.3546C>T (p.Ser1182=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416909	NM_198525.3(KIF7):c.3379C>G (p.Gln1127Glu)	KIF7, LOC126862216 (Q1127E)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 2416457	NM_198525.3(KIF7):c.3517+9C>A	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2287852	NM_198525.3(KIF7):c.3637G>C (p.Gly1213Arg)	KIF7, LOC126862216 (G1213R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256155	NM_198525.3(KIF7):c.3681C>A (p.Ser1227Arg)	KIF7, LOC126862216 (S1227R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240444	NM_198525.3(KIF7):c.3634G>A (p.Gly1212Ser)	KIF7, LOC126862216 (G1212S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2229594	NM_198525.3(KIF7):c.3344A>T (p.His1115Leu)	KIF7, LOC126862216 (H1115L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2188440	NM_198525.3(KIF7):c.3480C>G (p.His1160Gln)	KIF7, LOC126862216 (H1160Q)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 2180641	NM_198525.3(KIF7):c.3331C>G (p.Arg1111Gly)	KIF7, LOC126862216 (R1111G)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 2173371	NM_198525.3(KIF7):c.3664+16G>A	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2169449	NM_198525.3(KIF7):c.3687C>T (p.Cys1229=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2161166	NM_198525.3(KIF7):c.3664+2dup	KIF7, LOC126862216	Duplication (splice donor variant)	Acrocallosal syndrome	GUncertain significance
Select item 2157762	NM_198525.3(KIF7):c.3553C>T (p.Gln1185Ter)	KIF7, LOC126862216 (Q1185*)	Single nucleotide variant (nonsense)	Acrocallosal syndrome	GPathogenic
Select item 2153816	NM_198525.3(KIF7):c.3489C>T (p.Asn1163=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2147972	NM_198525.3(KIF7):c.3366G>A (p.Ser1122=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GUncertain significance
Select item 2143874	NM_198525.3(KIF7):c.3637G>T (p.Gly1213Cys)	KIF7, LOC126862216 (G1213C)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 2139956	NM_198525.3(KIF7):c.3480C>T (p.His1160=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2127983	NM_198525.3(KIF7):c.3483G>A (p.Glu1161=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2126024	NM_198525.3(KIF7):c.3664+9T>C	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2110753	NM_198525.3(KIF7):c.3319-16C>G	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2107457	NM_198525.3(KIF7):c.3665-13C>T	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2104524	NM_198525.3(KIF7):c.3383T>C (p.Leu1128Pro)	KIF7, LOC126862216 (L1128P)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 2099855	NM_198525.3(KIF7):c.3665-8C>T	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2091333	NM_198525.3(KIF7):c.3526G>A (p.Gly1176Ser)	KIF7, LOC126862216 (G1176S)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 2070626	NM_198525.3(KIF7):c.3664+1G>A	KIF7, LOC126862216	Single nucleotide variant (splice donor variant)	Acrocallosal syndrome	GUncertain significance
Select item 2070535	NM_198525.3(KIF7):c.3417G>A (p.Glu1139=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2050690	NM_198525.3(KIF7):c.3664+14G>A	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2048802	NM_198525.3(KIF7):c.3437G>A (p.Arg1146His)	KIF7, LOC126862216 (R1146H)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 2024352	NM_198525.3(KIF7):c.3664+16G>T	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2022826	NM_198525.3(KIF7):c.3319-18G>A	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 1996072	NM_198525.3(KIF7):c.3328C>T (p.Leu1110Phe)	KIF7, LOC126862216 (L1110F)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1992855	NM_198525.3(KIF7):c.3391C>G (p.Gln1131Glu)	KIF7, LOC126862216 (Q1131E)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1987705	NM_198525.3(KIF7):c.3517+12G>A	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 1966942	NM_198525.3(KIF7):c.3360C>T (p.Ala1120=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 1958390	NM_198525.3(KIF7):c.3602T>C (p.Met1201Thr)	LOC126862216, KIF7 (M1201T)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1956764	NM_198525.3(KIF7):c.3514C>T (p.Arg1172Ter)	KIF7, LOC126862216 (R1172*)	Single nucleotide variant (nonsense)	Acrocallosal syndrome	GPathogenic
Select item 1951581	NM_198525.3(KIF7):c.3664+5C>G	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GUncertain significance
Select item 1895599	NM_198525.3(KIF7):c.3441G>A (p.Leu1147=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 1674074	NM_198525.3(KIF7):c.3518-4C>G	KIF7, LOC126862216	Single nucleotide variant (intron variant)	KIF7-related condition +1 more	GLikely benign
Select item 1661246	NM_198525.3(KIF7):c.3518-13C>G	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 1651345	NM_198525.3(KIF7):c.3423C>G (p.Ala1141=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	KIF7-related condition +1 more	GLikely benign
Select item 1638582	NM_198525.3(KIF7):c.3345C>T (p.His1115=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GLikely benign
Select item 1622236	NM_198525.3(KIF7):c.3363C>T (p.Phe1121=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 1598226	NM_198525.3(KIF7):c.3518-16G>A	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 1597292	NM_198525.3(KIF7):c.3664+10C>T	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 1595807	NM_198525.3(KIF7):c.3405G>A (p.Val1135=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 1592823	NM_198525.3(KIF7):c.3664+15C>A	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 1591686	NM_198525.3(KIF7):c.3645C>T (p.Asn1215=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 1591638	NM_198525.3(KIF7):c.3465G>A (p.Leu1155=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 1589557	NM_198525.3(KIF7):c.3456G>A (p.Gln1152=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 1573650	NM_198525.3(KIF7):c.3327G>A (p.Thr1109=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 1560842	NM_198525.3(KIF7):c.3612C>T (p.Asn1204=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 1543607	NM_198525.3(KIF7):c.3664+13C>T	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 1521247	NM_198525.3(KIF7):c.3624_3629dup (p.Gln1209_Lys1210dup)	KIF7, LOC126862216	Duplication (inframe_insertion)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1518945	NM_198525.3(KIF7):c.3646G>A (p.Ala1216Thr)	KIF7, LOC126862216 (A1216T)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1511752	NM_198525.3(KIF7):c.3510G>T (p.Gln1170His)	KIF7, LOC126862216 (Q1170H)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1509899	NM_198525.3(KIF7):c.3585G>C (p.Lys1195Asn)	KIF7, LOC126862216 (K1195N)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +1 more	GUncertain significance
Select item 1507754	NM_198525.3(KIF7):c.3319-3C>G	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GUncertain significance
Select item 1503699	NM_198525.3(KIF7):c.3431G>T (p.Arg1144Leu)	KIF7, LOC126862216 (R1144L)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +2 more	GUncertain significance
Select item 1490581	NM_198525.3(KIF7):c.3518-3T>C	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GUncertain significance
Select item 1484941	NM_198525.3(KIF7):c.3554A>T (p.Gln1185Leu)	KIF7, LOC126862216 (Q1185L)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1468258	NM_198525.3(KIF7):c.3466CAG[1] (p.Gln1157del)	KIF7, LOC126862216 (Q1157del)	Microsatellite (inframe_deletion)	Acrocallosal syndrome	GUncertain significance
Select item 1461904	NM_198525.3(KIF7):c.3565C>T (p.Arg1189Trp)	KIF7, LOC126862216 (R1189W)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +1 more	GUncertain significance
Select item 1448413	NM_198525.3(KIF7):c.3365C>G (p.Ser1122Trp)	KIF7, LOC126862216 (S1122W)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1440489	NM_198525.3(KIF7):c.3542A>G (p.Asp1181Gly)	KIF7, LOC126862216 (D1181G)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1425362	NM_198525.3(KIF7):c.3560A>G (p.Glu1187Gly)	KIF7, LOC126862216 (E1187G)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1424756	NM_198525.3(KIF7):c.3574G>A (p.Ala1192Thr)	KIF7, LOC126862216 (A1192T)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1423467	NM_198525.3(KIF7):c.3332G>A (p.Arg1111Gln)	KIF7, LOC126862216 (R1111Q)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1422629	NM_198525.3(KIF7):c.3430C>T (p.Arg1144Trp)	KIF7, LOC126862216 (R1144W)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1421652	NM_198525.3(KIF7):c.3570T>G (p.Ile1190Met)	KIF7, LOC126862216 (I1190M)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1416876	NM_198525.3(KIF7):c.3365C>T (p.Ser1122Leu)	KIF7, LOC126862216 (S1122L)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1414273	NM_198525.3(KIF7):c.3518-5T>A	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 1399060	NM_198525.3(KIF7):c.3481G>C (p.Glu1161Gln)	KIF7, LOC126862216 (E1161Q)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1388646	NM_198525.3(KIF7):c.3526G>C (p.Gly1176Arg)	KIF7, LOC126862216 (G1176R)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1380657	NM_198525.3(KIF7):c.3595C>T (p.Arg1199Cys)	KIF7, LOC126862216 (R1199C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1369613	NM_198525.3(KIF7):c.3472A>C (p.Lys1158Gln)	KIF7, LOC126862216 (K1158Q)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1363280	NM_198525.3(KIF7):c.3431G>A (p.Arg1144Gln)	KIF7, LOC126862216 (R1144Q)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1359657	NM_198525.3(KIF7):c.3474G>T (p.Lys1158Asn)	KIF7, LOC126862216 (K1158N)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 1335940	NM_198525.3(KIF7):c.3508C>T (p.Gln1170Ter)	KIF7, LOC126862216 (Q1170*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1331269	NM_198525.3(KIF7):c.3670_3672del (p.Glu1224del)	KIF7, LOC126862216 (E1224del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1311878	NM_198525.3(KIF7):c.3391C>A (p.Gln1131Lys)	KIF7, LOC126862216 (Q1131K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302492	NM_198525.3(KIF7):c.3566G>A (p.Arg1189Gln)	KIF7, LOC126862216 (R1189Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1298637	NM_198525.3(KIF7):c.3525C>T (p.Leu1175=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +2 more	GLikely benign
Select item 1287162	NM_198525.3(KIF7):c.3518-88_3518-67del	KIF7, LOC126862216	Deletion (intron variant)	not provided	GBenign
Select item 1263838	NM_198525.3(KIF7):c.3319-107T>A	KIF7, LOC126862216	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244272	NM_198525.3(KIF7):c.3518-121T>C	KIF7, LOC126862216	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227913	NM_198525.3(KIF7):c.3664+74G>C	KIF7, LOC126862216	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220826	NM_198525.3(KIF7):c.3319-141G>A	KIF7, LOC126862216	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1099275	NM_198525.3(KIF7):c.3319-13_3319-12del	KIF7, LOC126862216	Deletion (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 1086832	NM_198525.3(KIF7):c.3402G>A (p.Leu1134=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign

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