Related gene-specific medical variations for Gene (Select 26128) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065654	NM_015634.4(KIFBP):c.1097G>A (p.Gly366Glu)	KIFBP (G366E)	Single nucleotide variant (missense variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 3064874	NM_015634.4(KIFBP):c.99C>G (p.Tyr33Ter)	KIFBP, LOC130003959 (Y33*)	Single nucleotide variant (nonsense)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 2584999	NM_015634.4(KIFBP):c.108del (p.Lys36fs)	KIFBP, LOC130003959 (K36fs)	Deletion (frameshift variant)	Goldberg-Shprintzen syndrome	GLikely pathogenic
Select item 2433113	NM_015634.4(KIFBP):c.985A>G (p.Met329Val)	KIFBP (M329V)	Single nucleotide variant (missense variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 1807045	NM_015634.4(KIFBP):c.541C>T (p.Leu181Phe)	KIFBP (L181F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1694469	NM_015634.4(KIFBP):c.128_132dup (p.Glu45fs)	KIFBP, LOC130003959 (E45fs)	Duplication (frameshift variant)	Goldberg-Shprintzen syndrome	GPathogenic
Select item 1681408	NM_015634.4(KIFBP):c.54T>C (p.Ala18=)	KIFBP, LOC130003959	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1334756	NM_015634.4(KIFBP):c.47C>T (p.Ala16Val)	KIFBP, LOC130003959 (A16V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995172	NM_015634.4(KIFBP):c.19G>T (p.Ala7Ser)	KIFBP, LOC130003959 (A7S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 974776	NM_015634.4(KIFBP):c.169G>T (p.Glu57Ter)	KIFBP (E57*)	Single nucleotide variant (nonsense)	Goldberg-Shprintzen syndrome	GLikely pathogenic
Select item 878714	NM_015634.4(KIFBP):c.121G>C (p.Ala41Pro)	KIFBP, LOC130003959 (A41P)	Single nucleotide variant (missense variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 878713	NM_015634.4(KIFBP):c.116C>G (p.Ala39Gly)	KIFBP, LOC130003959 (A39G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 877691	NM_015634.4(KIFBP):c.66G>A (p.Val22=)	KIFBP, LOC130003959	Single nucleotide variant (synonymous variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 877690	NM_015634.4(KIFBP):c.60G>C (p.Ser20=)	KIFBP, LOC130003959	Single nucleotide variant (synonymous variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 747088	NM_015634.4(KIFBP):c.48G>T (p.Ala16=)	KIFBP, LOC130003959	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 691502	NM_015634.3:c.905_1020del	KIFBP	Deletion	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 691486	NM_015634.4(KIFBP):c.1694_1695del (p.Glu565fs)	KIFBP (E565fs)	Microsatellite (frameshift variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 691485	NM_015634.4(KIFBP):c.565C>T (p.Pro189Ser)	KIFBP (P189S)	Single nucleotide variant (missense variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 435590	NM_015634.4(KIFBP):c.29G>T (p.Cys10Phe)	KIFBP, LOC130003959 (C10F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 389711	NM_015634.4(KIFBP):c.-20G>A	KIFBP, LOC130003959	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 158699	NM_015634.4(KIFBP):c.78A>G (p.Lys26=)	KIFBP, LOC130003959	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 158698	NM_015634.4(KIFBP):c.68A>G (p.Glu23Gly)	LOC130003959, KIFBP (E23G)	Single nucleotide variant (missense variant)	KIFBP-related condition +3 more	GBenign/Likely benign

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Links from Gene

Items: 22