Related gene-specific medical variations for Gene (Select 3832) - ClinVar

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

Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244971	NC_000010.10:g.(?_94353133)_(94353229_?)dup	KIF11	Duplication	not provided	GUncertain significance
Select item 3244969	NC_000010.10:g.(?_94368757)_(94399677_?)del	KIF11	Deletion	not provided	GPathogenic
Select item 3244968	NC_000010.10:g.(?_94381122)_(94381250_?)del	KIF11	Deletion	not provided	GPathogenic
Select item 3064390	NM_004523.4(KIF11):c.1235T>G (p.Leu412Ter)	KIF11 (L412*)	Single nucleotide variant (nonsense)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 3064110	NM_004523.4(KIF11):c.489del (p.Tyr164fs)	KIF11 (Y164fs)	Deletion (frameshift variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 3062326	NM_004523.4(KIF11):c.1345C>T (p.Gln449Ter)	KIF11 (Q449*)	Single nucleotide variant (nonsense)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 2582738	NM_004523.4(KIF11):c.388-6T>G	KIF11	Single nucleotide variant (intron variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GUncertain significance
Select item 2441929	NM_004523.4(KIF11):c.1875+4A>G	KIF11	Single nucleotide variant (intron variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GUncertain significance
Select item 2441839	NM_004523.4(KIF11):c.1480G>A (p.Asp494Asn)	KIF11 (D494N)	Single nucleotide variant (missense variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GUncertain significance
Select item 2441830	NM_004523.4(KIF11):c.2654C>A (p.Thr885Asn)	KIF11 (T885N)	Single nucleotide variant (missense variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GUncertain significance
Select item 2433120	NM_004523.4(KIF11):c.2369G>C (p.Gly790Ala)	KIF11 (G790A)	Single nucleotide variant (missense variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GUncertain significance
Select item 2433119	NM_004523.4(KIF11):c.1879G>A (p.Val627Ile)	KIF11 (V627I)	Single nucleotide variant (missense variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GUncertain significance
Select item 2433118	NM_004523.4(KIF11):c.2704A>G (p.Ile902Val)	KIF11 (I902V)	Single nucleotide variant (missense variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GUncertain significance
Select item 2429869	NM_004523.4(KIF11):c.487A>G (p.Ile163Val)	KIF11 (I163V)	Single nucleotide variant (missense variant)	Developmental disorder	GUncertain significance
Select item 1299334	NM_004523.4:c.(1217+1_1218-1)_(1494+1_1495-1)del	KIF11	Deletion	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GPathogenic
Select item 1213802	NM_004523.4(KIF11):c.1823T>C (p.Leu608Pro)	KIF11 (L608P)	Single nucleotide variant (missense variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GUncertain significance
Select item 1174128	NG_032580.1:g.(92613040_92613130)_(92613377_92613619)del	KIF11	Deletion	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 1029855	NM_004523.4(KIF11):c.2279A>T (p.Asp760Val)	KIF11 (D760V)	Single nucleotide variant (missense variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GUncertain significance
Select item 975582	NM_004523.4(KIF11):c.1628A>G (p.Asn543Ser)	KIF11 (N543S)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 931459	NM_004523.4(KIF11):c.2312_2313del (p.Lys771fs)	KIF11 (K771fs)	Deletion (frameshift variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 872767	NM_004523.4(KIF11):c.2802C>G (p.Tyr934Ter)	KIF11 (Y934*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 872245	NM_004523.4(KIF11):c.1177del (p.Arg393fs)	KIF11 (R393fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 866875	NM_004523.4(KIF11):c.2372C>G (p.Thr791Arg)	KIF11 (T791R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866566	NM_004523.4(KIF11):c.2729dup (p.Asn910fs)	KIF11 (N910fs)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866368	NM_004523.4(KIF11):c.1134T>G (p.Tyr378Ter)	KIF11 (Y378*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 374528	NM_004523.4(KIF11):c.2267+4del	KIF11	Deletion (intron variant)	not provided	GLikely pathogenic
Select item 259407	NM_004523.4(KIF11):c.*19A>G	KIF11	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 27