"GeneDx"[submitter] AND "KIF7"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 1196922	NM_198525.3(KIF7):c.*254C>T	KIF7	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 887088	NM_198525.3(KIF7):c.*139C>T	KIF7	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 1327739	NM_198525.3(KIF7):c.3977G>A (p.Arg1326Gln)	KIF7 (R1326Q)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +1 more	GUncertain significance
Select item 888359	NM_198525.3(KIF7):c.3973C>T (p.Arg1325Trp)	KIF7 (R1325W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 263153	NM_198525.3(KIF7):c.3960T>A (p.Pro1320=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +2 more	GConflicting classifications of pathogenicity
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 1305916	NM_198525.3(KIF7):c.3938G>A (p.Gly1313Asp)	KIF7 (G1313D)	Single nucleotide variant (missense variant)	not provided	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 649419	NM_198525.3(KIF7):c.3893C>T (p.Ala1298Val)	KIF7 (A1298V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 885251	NM_198525.3(KIF7):c.3871G>A (p.Glu1291Lys)	KIF7 (E1291K)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +1 more	GUncertain significance
Select item 516137	NM_198525.3(KIF7):c.3870C>G (p.Pro1290=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GLikely benign
Select item 596874	NM_198525.3(KIF7):c.3842G>T (p.Ser1281Ile)	KIF7 (S1281I)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Al-Gazali type +2 more	GConflicting classifications of pathogenicity
Select item 386891	NM_198525.3(KIF7):c.3828C>T (p.Thr1276=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GLikely benign
Select item 1192044	NM_198525.3(KIF7):c.3797G>A (p.Arg1266Gln)	KIF7 (R1266Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 652558	NM_198525.3(KIF7):c.3784C>T (p.Arg1262Trp)	KIF7 (R1262W)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +3 more	GConflicting classifications of pathogenicity
Select item 942013	NM_198525.3(KIF7):c.3778dup (p.Arg1260fs)	KIF7 (R1260fs)	Duplication (frameshift variant)	Acrocallosal syndrome +1 more	GUncertain significance
Select item 1215057	NM_198525.3(KIF7):c.3761_3778del (p.Leu1254_Pro1259del)	KIF7	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1723567	NM_198525.3(KIF7):c.3772_3773delinsT (p.Ala1258fs)	KIF7 (A1258fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 596870	NM_198525.3(KIF7):c.3738C>G (p.Pro1246=)	KIF7	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1314681	NM_198525.3(KIF7):c.3713A>G (p.Asn1238Ser)	KIF7 (N1238S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1331269	NM_198525.3(KIF7):c.3670_3672del (p.Glu1224del)	KIF7, LOC126862216 (E1224del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 263152	NM_198525.3(KIF7):c.3665-18C>T	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome +2 more	GBenign
Select item 1227913	NM_198525.3(KIF7):c.3664+74G>C	KIF7, LOC126862216	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 389569	NM_198525.3(KIF7):c.3664+15C>T	KIF7, LOC126862216	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 885253	NM_198525.3(KIF7):c.3637G>A (p.Gly1213Ser)	KIF7, LOC126862216 (G1213S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1302492	NM_198525.3(KIF7):c.3566G>A (p.Arg1189Gln)	KIF7, LOC126862216 (R1189Q)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +1 more	GUncertain significance
Select item 1287162	NM_198525.3(KIF7):c.3518-88_3518-67del	KIF7, LOC126862216	Deletion (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 507505	NM_198525.3(KIF7):c.3517+11C>T	KIF7, LOC126862216	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 129416	NM_198525.3(KIF7):c.3517+6C>T	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Multiple epiphyseal dysplasia, Al-Gazali type +4 more	GBenign
Select item 286941	NM_198525.3(KIF7):c.3514C>A (p.Arg1172=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1049562	NM_198525.3(KIF7):c.3505C>T (p.Gln1169Ter)	KIF7, LOC126862216 (Q1169*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3372099	NM_198525.3(KIF7):c.3472_3474del (p.Lys1158del)	KIF7, LOC126862216 (K1158del)	Deletion	not provided	GUncertain significance
Select item 451950	NM_198525.3(KIF7):c.3395A>C (p.Gln1132Pro)	KIF7, LOC126862216 (Q1132P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 129415	NM_198525.3(KIF7):c.3345C>G (p.His1115Gln)	KIF7, LOC126862216 (H1115Q)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +4 more	GBenign/Likely benign
Select item 3369578	NM_198525.3(KIF7):c.3337G>A (p.Glu1113Lys)	KIF7, LOC126862216 (E1113K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 509759	NM_198525.3(KIF7):c.3331C>A (p.Arg1111=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GLikely benign
Select item 886147	NM_198525.3(KIF7):c.3319-13G>A	LOC126862216, KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome +1 more	GConflicting classifications of pathogenicity
Select item 673962	NM_198525.3(KIF7):c.3319-30A>C	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Hydrolethalus syndrome 2 +3 more	GBenign
Select item 1263838	NM_198525.3(KIF7):c.3319-107T>A	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 1190714	NM_198525.3(KIF7):c.3318+198C>A	KIF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174267	NM_198525.3(KIF7):c.3318+87C>T	KIF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267578	NM_198525.3(KIF7):c.3318+49G>T	KIF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3252186	NM_198525.3(KIF7):c.3286A>T (p.Thr1096Ser)	KIF7 (T1096S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451951	NM_198525.3(KIF7):c.3281C>G (p.Ser1094Ter)	KIF7 (S1094*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1196685	NM_198525.3(KIF7):c.3278C>T (p.Ser1093Phe)	KIF7 (S1093F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 598080	NM_198525.3(KIF7):c.3264C>T (p.Leu1088=)	KIF7	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1192156	NM_198525.3(KIF7):c.3212G>A (p.Arg1071Gln)	KIF7 (R1071Q)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +1 more	GUncertain significance
Select item 531999	NM_198525.3(KIF7):c.3202C>T (p.Arg1068Trp)	KIF7 (R1068W)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +1 more	GConflicting classifications of pathogenicity
Select item 263145	NM_198525.3(KIF7):c.3112-11_3112-10insCT	KIF7	Insertion (intron variant)	Hydrolethalus syndrome 2 +4 more	GBenign
Select item 1257760	NM_198525.3(KIF7):c.3112-133G>C	KIF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219690	NM_198525.3(KIF7):c.3112-239G>A	KIF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232039	NM_198525.3(KIF7):c.3112-279C>A	KIF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207191	NM_198525.3(KIF7):c.3111+272C>T	KIF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191735	NM_198525.3(KIF7):c.3111+144G>C	KIF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283896	NM_198525.3(KIF7):c.3111+106C>T	KIF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 284025	NM_198525.3(KIF7):c.3111+9C>A	KIF7	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 681602	NM_198525.3(KIF7):c.3072C>T (p.Ile1024=)	KIF7	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 642388	NM_198525.3(KIF7):c.3061C>T (p.Arg1021Cys)	KIF7 (R1021C)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +2 more	GUncertain significance
Select item 96655	NM_198525.3(KIF7):c.3048G>A (p.Ser1016=)	KIF7	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 96653	NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg)	KIF7 (G1005R)	Single nucleotide variant (missense variant)	Hydrolethalus syndrome 2 +4 more	GBenign
Select item 129414	NM_198525.3(KIF7):c.3012C>T (p.Arg1004=)	KIF7	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 30897	NM_198525.3(KIF7):c.3001C>T (p.Gln1001Ter)	KIF7 (Q1001*)	Single nucleotide variant (nonsense)	Acrocallosal syndrome +1 more	GPathogenic
Select item 1055388	NM_198525.3(KIF7):c.2990C>A (p.Ala997Asp)	KIF7 (A997D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 194572	NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg)	KIF7 (Q994R)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +1 more	GBenign/Likely benign
Select item 501276	NM_198525.3(KIF7):c.2959G>A (p.Glu987Lys)	KIF7 (E987K)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 387206	NM_198525.3(KIF7):c.2958C>T (p.Ser986=)	KIF7	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 288336	NM_198525.3(KIF7):c.2917C>G (p.Arg973Gly)	KIF7 (R973G)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 211301	NM_198525.3(KIF7):c.2907G>C (p.Glu969Asp)	KIF7 (E969D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 30895	NM_198525.3(KIF7):c.2896_2897del (p.Ala966fs)	KIF7 (A966fs)	Deletion (frameshift variant)	Acrocallosal syndrome +2 more	GPathogenic
Select item 96652	NM_198525.3(KIF7):c.2896-14G>A	KIF7	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1215617	NM_198525.3(KIF7):c.2896-110T>G	KIF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249846	NM_198525.3(KIF7):c.2896-174C>T	KIF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203911	NM_198525.3(KIF7):c.2895+121G>A	KIF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 435645	NM_198525.3(KIF7):c.2887T>A (p.Ser963Thr)	KIF7 (S963T)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +4 more	GUncertain significance
Select item 96651	NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile)	KIF7 (S958I)	Single nucleotide variant (missense variant)	Hydrolethalus syndrome 2 +4 more	GBenign
Select item 287636	NM_198525.3(KIF7):c.2861C>T (p.Thr954Met)	KIF7 (T954M)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +2 more	GConflicting classifications of pathogenicity
Select item 531998	NM_198525.3(KIF7):c.2815C>T (p.Arg939Trp)	KIF7 (R939W)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +4 more	GUncertain significance
Select item 1407884	NM_198525.3(KIF7):c.2780G>A (p.Arg927Gln)	KIF7 (R927Q)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +2 more	GUncertain significance
Select item 1512115	NM_198525.3(KIF7):c.2779C>T (p.Arg927Trp)	KIF7 (R927W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1108206	NM_198525.3(KIF7):c.2719-28CCCT[9]	KIF7	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 518108	NM_198525.3(KIF7):c.2719-28CCCT[7]	KIF7	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 449246	NM_198525.3(KIF7):c.2719-28CCCT[6]	KIF7	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 418626	NM_198525.3(KIF7):c.2719-28CCCT[5]	KIF7	Microsatellite (intron variant)	Acrocallosal syndrome +1 more	GLikely benign
Select item 96650	NM_198525.3(KIF7):c.2719-28CCCT[8]	KIF7	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1291259	NM_198525.3(KIF7):c.2719-28CCCT[3]	KIF7	Microsatellite (intron variant)	Acrocallosal syndrome +1 more	GBenign/Likely benign
Select item 1269532	NM_198525.3(KIF7):c.2719-25_2719-24insTCCCTTCCTCCCTCCC	KIF7	Microsatellite (intron variant)	not provided	GBenign
Select item 511558	NM_198525.3(KIF7):c.2718+20G>A	KIF7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 512368	NM_198525.3(KIF7):c.2718+19C>T	KIF7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1374906	NM_198525.3(KIF7):c.2689G>A (p.Gly897Ser)	KIF7 (G897S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 194289	NM_198525.3(KIF7):c.2672G>C (p.Arg891Thr)	KIF7 (R891T)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +2 more	GUncertain significance
Select item 3252832	NM_198525.3(KIF7):c.2667del (p.Lys890fs)	KIF7 (K890fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 129413	NM_198525.3(KIF7):c.2658A>C (p.Ala886=)	KIF7	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 1303361	NM_198525.3(KIF7):c.2654C>A (p.Ala885Glu)	KIF7 (A885E)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +1 more	GUncertain significance
Select item 1501465	NM_198525.3(KIF7):c.2642C>T (p.Thr881Met)	KIF7 (T881M)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Al-Gazali type +4 more	GUncertain significance

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