LOC130003959[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 512621	NM_015634.3(KIFBP):c.-40G>A	KIFBP, LOC130003959	Single nucleotide variant	not specified	GLikely benign
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 995172	NM_015634.4(KIFBP):c.19G>T (p.Ala7Ser)	KIFBP, LOC130003959 (A7S)	Single nucleotide variant (missense variant)	not provided	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 1334756	NM_015634.4(KIFBP):c.47C>T (p.Ala16Val)	KIFBP, LOC130003959 (A16V)	Single nucleotide variant (missense variant)	not provided	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 1681408	NM_015634.4(KIFBP):c.54T>C (p.Ala18=)	KIFBP, LOC130003959	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 877691	NM_015634.4(KIFBP):c.66G>A (p.Val22=)	KIFBP, LOC130003959	Single nucleotide variant (synonymous variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 158698	NM_015634.4(KIFBP):c.68A>G (p.Glu23Gly)	KIFBP, LOC130003959 (E23G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 158699	NM_015634.4(KIFBP):c.78A>G (p.Lys26=)	KIFBP, LOC130003959	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 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 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 1694469	NM_015634.4(KIFBP):c.128_132dup (p.Glu45fs)	KIFBP, LOC130003959 (E45fs)	Duplication (frameshift variant)	Goldberg-Shprintzen syndrome	GPathogenic
Select item 3288678	NM_015634.4(KIFBP):c.133G>A (p.Glu45Lys)	KIFBP, LOC130003959 (E45K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 22