"GeneDx"[submitter] AND "KIF2A"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 131

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 673524	NM_001098511.2(KIF2A):c.-544A>G	LOC129993961, KIF2A	Single nucleotide variant	not provided	GLikely benign
Select item 1204563	NC_000005.10:g.62306184G>A	KIF2A, LOC129993961	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1211628	NC_000005.10:g.62306198G>A	KIF2A, LOC129993961	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1190889	NM_001098511.3(KIF2A):c.-262A>C	KIF2A, LOC129993961	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1222402	NM_001098511.3(KIF2A):c.-250C>T	KIF2A, LOC129993961	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1210636	NM_001098511.3(KIF2A):c.-81A>G	KIF2A, LOC129993961	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 512622	NM_001098511.3(KIF2A):c.-37C>A	KIF2A, LOC129993961	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 515876	NM_001098511.3(KIF2A):c.-29G>C	KIF2A, LOC129993961	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 435641	NM_001098511.3(KIF2A):c.48G>A (p.Glu16=)	KIF2A, LOC129993961	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 672373	NM_001098511.3(KIF2A):c.64+205G>C	KIF2A, LOC129993961	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266329	NM_001098511.3(KIF2A):c.64+289C>T	KIF2A, LOC129993961	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259864	NM_001098511.3(KIF2A):c.64+296C>T	KIF2A, LOC129993961	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683951	NM_001098511.3(KIF2A):c.64+298T>C	KIF2A, LOC129993961	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188323	NM_001098511.3(KIF2A):c.64+1578T>G	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233929	NM_001098511.3(KIF2A):c.64+1841C>A	KIF2A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1226230	NM_001098511.3(KIF2A):c.64+2093T>C	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193728	NM_001098511.3(KIF2A):c.64+2193A>C	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682852	NM_001098511.3(KIF2A):c.65-126A>G	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380829	NM_001098511.3(KIF2A):c.65-20T>C	KIF2A	Single nucleotide variant (intron variant)	Complex cortical dysplasia with other brain malformations 3 +2 more	GBenign
Select item 1216848	NM_001098511.3(KIF2A):c.160-233G>A	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672374	NM_001098511.3(KIF2A):c.160-214G>A	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271265	NM_001098511.3(KIF2A):c.160-106G>A	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682855	NM_001098511.3(KIF2A):c.160-59G>A	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 382901	NM_001098511.3(KIF2A):c.195C>A (p.Asp65Glu)	KIF2A (D65E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 3372557	NM_001098511.3(KIF2A):c.202C>T (p.Pro68Ser)	KIF2A (P41S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 384104	NM_001098511.3(KIF2A):c.226C>A (p.Pro76Thr)	KIF2A (P76T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 1294437	NM_001098511.3(KIF2A):c.280-257T>C	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289919	NM_001098511.3(KIF2A):c.280-23A>G	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1305519	NM_001098511.3(KIF2A):c.328A>C (p.Asn110His)	KIF2A (N110H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1243933	NM_001098511.3(KIF2A):c.334+175dup	KIF2A	Duplication (intron variant)	not provided	GBenign
Select item 1233066	NM_001098511.3(KIF2A):c.334+245C>A	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682857	NM_001098511.3(KIF2A):c.335-92A>G	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210906	NM_001098511.3(KIF2A):c.335-21A>T	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1310060	NM_001098511.3(KIF2A):c.355C>G (p.Arg119Gly)	KIF2A (R119G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 523636	NM_001098511.3(KIF2A):c.382T>C (p.Ser128Pro)	KIF2A (S128P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1203497	NM_001098511.3(KIF2A):c.385T>C (p.Ser129Pro)	KIF2A (S102P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 672375	NM_001098511.3(KIF2A):c.457+81G>A	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682862	NM_001098511.3(KIF2A):c.457+191G>A	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682860	NM_001098511.3(KIF2A):c.457+201T>G	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223570	NM_001098511.3(KIF2A):c.458-85G>T	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682864	NM_001098511.3(KIF2A):c.558+145T>A	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682866	NM_001098511.3(KIF2A):c.558+201T>G	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677295	NM_001098511.3(KIF2A):c.558+217G>C	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682867	NM_001098511.3(KIF2A):c.559-143G>A	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219875	NM_001098511.3(KIF2A):c.559-25G>T	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 506748	NM_001098511.3(KIF2A):c.559-16C>G	KIF2A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 453205	NM_001098511.3(KIF2A):c.562G>A (p.Val188Ile)	KIF2A (V188I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443506	NM_001098511.3(KIF2A):c.593T>A (p.Met198Lys)	KIF2A (M171K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298122	NM_001098511.3(KIF2A):c.654+112G>T	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682868	NM_001098511.3(KIF2A):c.654+167T>C	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669990	NM_001098511.3(KIF2A):c.655-274C>G	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227494	NM_001098511.3(KIF2A):c.655-104A>G	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212065	NM_001098511.3(KIF2A):c.709+154A>G	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682871	NM_001098511.3(KIF2A):c.709+185C>T	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2578181	NM_001098511.3(KIF2A):c.715C>T (p.Gln239Ter)	KIF2A (Q212* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3375808	NM_001098511.3(KIF2A):c.797C>T (p.Thr266Ile)	KIF2A (T239I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497920	NM_001098511.3(KIF2A):c.850G>A (p.Ala284Thr)	KIF2A (A257T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 682874	NM_001098511.3(KIF2A):c.872+61G>C	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189644	NM_001098511.3(KIF2A):c.872+69C>A	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242038	NM_001098511.3(KIF2A):c.872+70A>C	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672387	NM_001098511.3(KIF2A):c.873-280T>C	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241090	NM_001098511.3(KIF2A):c.873-150G>A	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189256	NM_001098511.3(KIF2A):c.873-89T>A	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 382138	NM_001098511.3(KIF2A):c.936T>C (p.Tyr312=)	KIF2A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 65401	NM_001098511.3(KIF2A):c.950G>A (p.Ser317Asn)	KIF2A (S317N +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2115385	NM_001098511.3(KIF2A):c.956A>G (p.Lys319Arg)	KIF2A (K292R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 682872	NM_001098511.3(KIF2A):c.964-65T>C	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1311891	NM_001098511.3(KIF2A):c.1024G>A (p.Ala342Thr)	KIF2A (A315T +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1258049	NM_001098511.3(KIF2A):c.1027+21A>T	KIF2A	Single nucleotide variant (intron variant)	Complex cortical dysplasia with other brain malformations 3 +1 more	GBenign
Select item 1189942	NM_001098511.3(KIF2A):c.1027+164A>G	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267589	NM_001098511.3(KIF2A):c.1027+192dup	KIF2A	Duplication (intron variant)	not provided	GBenign
Select item 682876	NM_001098511.3(KIF2A):c.1027+218T>C	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682877	NM_001098511.3(KIF2A):c.1027+230T>C	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183438	NM_001098511.3(KIF2A):c.1027+286A>G	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 382902	NM_001098511.3(KIF2A):c.1028-16A>G	KIF2A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2580711	NM_001098511.3(KIF2A):c.1109A>G (p.Tyr370Cys)	KIF2A (Y343C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 389696	NM_001098511.3(KIF2A):c.1119+17T>C	KIF2A	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1240903	NM_001098511.3(KIF2A):c.1119+28T>A	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668920	NM_001098511.3(KIF2A):c.1119+280T>A	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3343006	NM_001098511.3(KIF2A):c.1153A>G (p.Arg385Gly)	KIF2A (R358G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343306	NM_001098511.3(KIF2A):c.1162G>C (p.Glu388Gln)	KIF2A (E361Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572958	NM_001098511.3(KIF2A):c.1165G>C (p.Asp389His)	KIF2A (D362H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 682879	NM_001098511.3(KIF2A):c.1263-183C>T	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679549	NM_001098511.3(KIF2A):c.1263-41G>C	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 384387	NM_001098511.3(KIF2A):c.1263-7A>T	KIF2A	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 450872	NM_001098511.3(KIF2A):c.1279T>C (p.Ser427Pro)	KIF2A (S427P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308959	NM_001098511.3(KIF2A):c.1409C>T (p.Ala470Val)	KIF2A (A443V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298123	NM_001098511.3(KIF2A):c.1467+89C>T	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193310	NM_001098511.3(KIF2A):c.1467+266dup	KIF2A	Duplication (intron variant)	not provided	GLikely benign
Select item 1188555	NM_001098511.3(KIF2A):c.1468-164C>T	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2574401	NM_001098511.3(KIF2A):c.1479A>C (p.Arg493Ser)	KIF2A (R466S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312169	NM_001098511.3(KIF2A):c.1486G>A (p.Gly496Ser)	KIF2A (G469S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310136	NM_001098511.3(KIF2A):c.1534G>A (p.Val512Met)	KIF2A (V485M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1296933	NM_001098511.3(KIF2A):c.1536G>A (p.Val512=)	KIF2A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 423021	NM_001098511.3(KIF2A):c.1578+20_1578+30del	KIF2A	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1259797	NM_001098511.3(KIF2A):c.1579-307A>G	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2827528	NM_001098511.3(KIF2A):c.1624A>T (p.Asn542Tyr)	KIF2A (N515Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 682880	NM_001098511.3(KIF2A):c.1646+121C>T	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191088	NM_001098511.3(KIF2A):c.1646+146C>T	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682882	NM_001098511.3(KIF2A):c.1646+149G>A	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 2