"GeneDx"[submitter] AND "KIF5C"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152517	GRCh38/hg38 2q22.3-23.2(chr2:145471053-149582570)x1	ACVR2A, EPC2 +54 more	Copy number loss	See cases	GPathogenic
Select item 146065	GRCh38/hg38 2q22.3-23.2(chr2:147473194-149279840)x3	ACVR2A, EPC2 +32 more	Copy number gain	See cases	GUncertain significance
Select item 672640	NM_004522.2(KIF5C):c.-656A>G	KIF5C	Single nucleotide variant	not provided	GLikely benign
Select item 1185865	NC_000002.12:g.148875010A>G	KIF5C	Single nucleotide variant	not provided	GLikely benign
Select item 672641	NM_004522.2(KIF5C):c.-569G>A	KIF5C	Single nucleotide variant	not provided	GLikely benign
Select item 679867	NM_004522.2(KIF5C):c.-482C>A	KIF5C, LOC129934896	Single nucleotide variant	not provided	GLikely benign
Select item 1208967	NM_004522.3(KIF5C):c.-304C>A	KIF5C, LOC129934896	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 383708	NM_004522.3(KIF5C):c.-44G>A	KIF5C	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 421075	NM_004522.3(KIF5C):c.-36_-19del	KIF5C	Deletion (5 prime UTR variant)	not provided	GLikely benign
Select item 683963	NM_004522.3(KIF5C):c.-36A>C	KIF5C	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1249855	NM_004522.3(KIF5C):c.-32A>C	KIF5C	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1277980	NM_004522.3(KIF5C):c.-31T>C	KIF5C	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1203882	NM_004522.3(KIF5C):c.-31T>A	KIF5C	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 507276	NM_004522.3(KIF5C):c.-26G>C	KIF5C	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 509254	NM_004522.3(KIF5C):c.-17C>T	KIF5C	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2430517	NM_004522.3(KIF5C):c.1_3del (p.Met1del)	KIF5C (M1del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1308068	NM_004522.3(KIF5C):c.116T>C (p.Val39Ala)	KIF5C (V39A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1235352	NM_004522.3(KIF5C):c.126+46C>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200063	NM_004522.3(KIF5C):c.126+247del	KIF5C	Deletion (intron variant)	not provided	GLikely benign
Select item 1218422	NM_004522.3(KIF5C):c.127-214del	KIF5C, LOC101928553	Deletion (intron variant)	not provided	GLikely benign
Select item 1223634	NM_004522.3(KIF5C):c.127-74G>A	KIF5C, LOC101928553	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246884	NM_004522.3(KIF5C):c.138A>G (p.Pro46=)	KIF5C, LOC101928553	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1260232	NM_004522.3(KIF5C):c.217+162A>T	KIF5C, LOC101928553	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220017	NM_004522.3(KIF5C):c.218-95G>A	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 504269	NM_004522.3(KIF5C):c.265TCA[1] (p.Ser90del)	KIF5C (S90del)	Microsatellite (inframe_deletion)	not provided	GPathogenic
Select item 2443686	NM_004522.3(KIF5C):c.275A>G (p.Lys92Arg)	KIF5C (K92R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1333049	NM_004522.3(KIF5C):c.278C>T (p.Thr93Ile)	KIF5C (T93I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3365171	NM_004522.3(KIF5C):c.289G>A (p.Glu97Lys)	KIF5C (E97K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1203350	NM_004522.3(KIF5C):c.291+119G>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181548	NM_004522.3(KIF5C):c.292-247A>C	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682892	NM_004522.3(KIF5C):c.292-186A>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 513936	NM_004522.3(KIF5C):c.292-9G>A	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1313996	NM_004522.3(KIF5C):c.362A>G (p.Tyr121Cys)	KIF5C (Y121C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 389777	NM_004522.3(KIF5C):c.397-12G>C	KIF5C	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 510603	NM_004522.3(KIF5C):c.445+12C>T	KIF5C	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 682894	NM_004522.3(KIF5C):c.445+41G>A	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2662092	NM_004522.3(KIF5C):c.487G>C (p.Val163Leu)	KIF5C (V163L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380921	NM_004522.3(KIF5C):c.501+8G>A	KIF5C	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1265025	NM_004522.3(KIF5C):c.501+299G>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248124	NM_004522.3(KIF5C):c.502-268T>A	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292561	NM_004522.3(KIF5C):c.525G>A (p.Ser175=)	KIF5C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 380833	NM_004522.3(KIF5C):c.531T>C (p.Pro177=)	KIF5C	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 808816	NM_004522.3(KIF5C):c.576C>T (p.His192=)	KIF5C	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 513269	NM_004522.3(KIF5C):c.589+7A>G	KIF5C	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1218673	NM_004522.3(KIF5C):c.589+66G>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207889	NM_004522.3(KIF5C):c.589+67G>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181599	NM_004522.3(KIF5C):c.590-307A>G	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682895	NM_004522.3(KIF5C):c.590-56A>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3369604	NM_004522.3(KIF5C):c.676G>T (p.Gly226Trp)	KIF5C (G226W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1264093	NM_004522.3(KIF5C):c.708C>T (p.Ser236=)	KIF5C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 140740	NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys)	KIF5C (E237K)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 2 +1 more	GPathogenic/Likely pathogenic
Select item 1251676	NM_004522.3(KIF5C):c.715-39C>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380834	NM_004522.3(KIF5C):c.750C>T (p.Asp250=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 1193797	NM_004522.3(KIF5C):c.771G>A (p.Lys257=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3373672	NM_004522.3(KIF5C):c.793G>A (p.Val265Met)	KIF5C (V265M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1678783	NM_004522.3(KIF5C):c.802G>T (p.Ala268Ser)	KIF5C (A268S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 385842	NM_004522.3(KIF5C):c.819+15C>T	KIF5C	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1186626	NM_004522.3(KIF5C):c.819+24T>C	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215522	NM_004522.3(KIF5C):c.819+61A>G	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196679	NM_004522.3(KIF5C):c.819+139T>A	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216271	NM_004522.3(KIF5C):c.820-98C>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228168	NM_004522.3(KIF5C):c.820-59C>A	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261305	NM_004522.3(KIF5C):c.838C>A (p.Arg280=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1205370	NM_004522.3(KIF5C):c.968+95C>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189393	NM_004522.3(KIF5C):c.968+203C>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262141	NM_004522.3(KIF5C):c.968+207C>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216233	NM_004522.3(KIF5C):c.968+215C>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200314	NM_004522.3(KIF5C):c.969-294A>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247522	NM_004522.3(KIF5C):c.969-215A>G	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682896	NM_004522.3(KIF5C):c.969-186T>G	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216192	NM_004522.3(KIF5C):c.969-136T>C	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 385690	NM_004522.3(KIF5C):c.969-20C>T	KIF5C	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1283000	NM_004522.3(KIF5C):c.1117+40T>G	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261010	NM_004522.3(KIF5C):c.1117+192G>A	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196290	NM_004522.3(KIF5C):c.1117+192G>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251414	NM_004522.3(KIF5C):c.1117+239dup	KIF5C	Duplication (intron variant)	not provided	GBenign
Select item 1191296	NM_004522.3(KIF5C):c.1117+239del	KIF5C	Deletion (intron variant)	not provided	GLikely benign
Select item 1196357	NM_004522.3(KIF5C):c.1117+261T>C	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233326	NM_004522.3(KIF5C):c.1117+304C>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297401	NM_004522.3(KIF5C):c.1118-47A>G	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 384131	NM_004522.3(KIF5C):c.1191C>T (p.Pro397=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 517746	NM_004522.3(KIF5C):c.1251C>T (p.Tyr417=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 518204	NM_004522.3(KIF5C):c.1293+18C>A	KIF5C	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1251235	NM_004522.3(KIF5C):c.1293+109G>A	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682897	NM_004522.3(KIF5C):c.1294-172G>A	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282974	NM_004522.3(KIF5C):c.1294-14A>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681106	NM_004522.3(KIF5C):c.1294-12G>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669234	NM_004522.3(KIF5C):c.1344G>A (p.Gln448=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1206462	NM_004522.3(KIF5C):c.1362+83G>A	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679548	NM_004522.3(KIF5C):c.1362+173T>A	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197640	NM_004522.3(KIF5C):c.1363-251A>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195018	NM_004522.3(KIF5C):c.1363-130C>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 513937	NM_004522.3(KIF5C):c.1363-17C>T	KIF5C	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1315559	NM_004522.3(KIF5C):c.1405G>A (p.Glu469Lys)	KIF5C (E469K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1678806	NM_004522.3(KIF5C):c.1431T>C (p.Asn477=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1290873	NM_004522.3(KIF5C):c.1526C>T (p.Thr509Ile)	KIF5C (T509I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 682898	NM_004522.3(KIF5C):c.1569+57T>G	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204566	NM_004522.3(KIF5C):c.1569+188G>A	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191629	NM_004522.3(KIF5C):c.1569+206_1569+207del	KIF5C	Deletion (intron variant)	not provided	GLikely benign
Select item 1211747	NM_004522.3(KIF5C):c.1569+289G>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign

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