C1836123[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 158698	NM_015634.4(KIFBP):c.68A>G (p.Glu23Gly)	KIFBP, LOC130003959 (E23G)	Single nucleotide variant (missense variant)	KIFBP-related disorder +3 more	GBenign/Likely benign
Select item 158699	NM_015634.4(KIFBP):c.78A>G (p.Lys26=)	KIFBP, LOC130003959	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 158696	NM_015634.4(KIFBP):c.196G>A (p.Gly66Ser)	KIFBP (G66S)	Single nucleotide variant (missense variant)	Goldberg-Shprintzen syndrome +2 more	GBenign
Select item 158697	NM_015634.4(KIFBP):c.518T>C (p.Met173Thr)	KIFBP (M173T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 435591	NM_015634.4(KIFBP):c.781A>G (p.Ile261Val)	KIFBP (I261V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 158700	NM_015634.4(KIFBP):c.925G>A (p.Glu309Lys)	KIFBP (E309K)	Single nucleotide variant (missense variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 158692	NM_015634.4(KIFBP):c.1023G>A (p.Gln341=)	KIFBP	Single nucleotide variant (synonymous variant)	Goldberg-Shprintzen syndrome +2 more	GBenign
Select item 211258	NM_015634.4(KIFBP):c.1326A>G (p.Arg442=)	KIFBP	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 158693	NM_015634.4(KIFBP):c.1399C>T (p.Leu467=)	KIFBP	Single nucleotide variant (synonymous variant)	Goldberg-Shprintzen syndrome +2 more	GConflicting classifications of pathogenicity
Select item 158694	NM_015634.4(KIFBP):c.1653C>T (p.Ala551=)	KIFBP	Single nucleotide variant (synonymous variant)	Goldberg-Shprintzen syndrome +2 more	GBenign
Select item 158695	NM_015634.4(KIFBP):c.1761T>C (p.Pro587=)	KIFBP	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign