ClinVar for MedGen (Select 332131) - ClinVar

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

Links from MedGen

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381947	NM_015634.4(KIFBP):c.616del (p.Val206fs)	KIFBP (V206fs)	Deletion (frameshift variant)	Goldberg-Shprintzen syndrome	GLikely pathogenic
Select item 3250414	NM_015634.4(KIFBP):c.368G>A (p.Arg123Gln)	KIFBP (R123Q)	Single nucleotide variant (missense variant)	Goldberg-Shprintzen syndrome	GUncertain significance
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 1694469	NM_015634.4(KIFBP):c.128_132dup (p.Glu45fs)	KIFBP, LOC130003959 (E45fs)	Duplication (frameshift variant)	Goldberg-Shprintzen syndrome	GPathogenic
Select item 1313916	NM_015634.4(KIFBP):c.901G>A (p.Glu301Lys)	KIFBP (E301K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1299544	NM_033116.6(NEK9):c.2101C>T (p.Arg701Trp)	NEK9 (R583W +2 more)	Single nucleotide variant (missense variant)	Goldberg-Shprintzen syndrome	GLikely pathogenic
Select item 1299543	NM_033116.6(NEK9):c.219G>C (p.Glu73Asp)	NEK9 (E73D)	Single nucleotide variant (missense variant +1 more)	Goldberg-Shprintzen syndrome	GLikely pathogenic
Select item 1299542	NM_015634.4(KIFBP):c.1535C>G (p.Ser512Ter)	KIFBP (S512*)	Single nucleotide variant (nonsense)	Goldberg-Shprintzen syndrome	GPathogenic
Select item 1299541	NM_015634.4(KIFBP):c.1176_1177del (p.Glu394fs)	KIFBP (E394fs)	Deletion (frameshift variant)	Goldberg-Shprintzen syndrome	GPathogenic
Select item 988582	NM_015634.4(KIFBP):c.1723del (p.His575fs)	KIFBP (H575fs)	Deletion (frameshift variant)	Goldberg-Shprintzen syndrome	GLikely pathogenic
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 880496	NM_015634.4(KIFBP):c.1666A>C (p.Lys556Gln)	KIFBP (K556Q)	Single nucleotide variant (missense variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 880495	NM_015634.4(KIFBP):c.1615G>A (p.Val539Ile)	KIFBP (V539I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 880494	NM_015634.4(KIFBP):c.1373C>T (p.Thr458Ile)	KIFBP (T458I)	Single nucleotide variant (missense variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 880493	NM_015634.4(KIFBP):c.1325G>C (p.Arg442Thr)	KIFBP (R442T)	Single nucleotide variant (missense variant)	Goldberg-Shprintzen syndrome +1 more	GUncertain significance
Select item 879307	NM_015634.4(KIFBP):c.990+11C>T	KIFBP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 879306	NM_015634.4(KIFBP):c.963C>T (p.Leu321=)	KIFBP	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 879305	NM_015634.4(KIFBP):c.875-10T>C	KIFBP	Single nucleotide variant (intron variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 879304	NM_015634.4(KIFBP):c.858C>T (p.Ile286=)	KIFBP	Single nucleotide variant (synonymous variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 879303	NM_015634.4(KIFBP):c.718G>A (p.Glu240Lys)	KIFBP (E240K)	Single nucleotide variant (missense variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 878765	NM_015634.4(KIFBP):c.*523C>T	KIFBP	Single nucleotide variant (3 prime UTR variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 878764	NM_015634.4(KIFBP):c.*486G>A	KIFBP	Single nucleotide variant (3 prime UTR variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 878763	NM_015634.4(KIFBP):c.*451T>C	KIFBP	Single nucleotide variant (3 prime UTR variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 878762	NM_015634.4(KIFBP):c.*422A>C	KIFBP	Single nucleotide variant (3 prime UTR variant)	Goldberg-Shprintzen syndrome	GBenign
Select item 878761	NM_015634.4(KIFBP):c.*415C>T	KIFBP	Single nucleotide variant (3 prime UTR variant)	Goldberg-Shprintzen syndrome	GBenign
Select item 878718	NM_015634.4(KIFBP):c.322A>G (p.Thr108Ala)	KIFBP (T108A)	Single nucleotide variant (missense variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 878717	NM_015634.4(KIFBP):c.318C>T (p.Ile106=)	KIFBP	Single nucleotide variant (synonymous variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 878716	NM_015634.4(KIFBP):c.301C>T (p.Leu101Phe)	KIFBP (L101F)	Single nucleotide variant (missense variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 878715	NM_015634.4(KIFBP):c.202G>C (p.Gly68Arg)	KIFBP (G68R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 878714	NM_015634.4(KIFBP):c.121G>C (p.Ala41Pro)	KIFBP, LOC130003959 (A41P)	Single nucleotide variant (missense variant)	not specified +1 more	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 877729	NM_015634.4(KIFBP):c.*306A>G	KIFBP	Single nucleotide variant (3 prime UTR variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 877728	NM_015634.4(KIFBP):c.*271T>C	KIFBP	Single nucleotide variant (3 prime UTR variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 877727	NM_015634.4(KIFBP):c.*233C>G	KIFBP	Single nucleotide variant (3 prime UTR variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 877726	NM_015634.4(KIFBP):c.*133G>C	KIFBP	Single nucleotide variant (3 prime UTR variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 877725	NM_015634.4(KIFBP):c.*39T>A	KIFBP	Single nucleotide variant (3 prime UTR variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 877724	NM_015634.4(KIFBP):c.*20G>A	KIFBP	Single nucleotide variant (3 prime UTR variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 877723	NM_015634.4(KIFBP):c.1848C>A (p.Thr616=)	KIFBP	Single nucleotide variant (synonymous variant)	Goldberg-Shprintzen syndrome	GUncertain significance
Select item 877722	NM_015634.4(KIFBP):c.1768G>A (p.Ala590Thr)	KIFBP (A590T)	Single nucleotide variant (missense 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 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 691484	NM_015634.4(KIFBP):c.1279A>G (p.Ser427Gly)	KIFBP (S427G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596858	NM_015634.4(KIFBP):c.1645C>T (p.Arg549Ter)	KIFBP (R549*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 503623	NM_015634.4(KIFBP):c.1516dup (p.Ile506fs)	KIFBP (I506fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 437448	NM_015634.4(KIFBP):c.976C>T (p.Gln326Ter)	KIFBP (Q326*)	Single nucleotide variant (nonsense)	Goldberg-Shprintzen syndrome	GPathogenic
Select item 435591	NM_015634.4(KIFBP):c.781A>G (p.Ile261Val)	KIFBP (I261V)	Single nucleotide variant (missense variant)	Goldberg-Shprintzen syndrome +1 more	GUncertain significance
Select item 300283	NM_015634.4(KIFBP):c.1083dup (p.Ala362fs)	KIFBP (A362fs)	Duplication (frameshift variant)	Goldberg-Shprintzen syndrome +1 more	GConflicting classifications of pathogenicity
Select item 211258	NM_015634.4(KIFBP):c.1326A>G (p.Arg442=)	KIFBP	Single nucleotide variant (synonymous variant)	Goldberg-Shprintzen syndrome +2 more	GConflicting classifications of pathogenicity
Select item 183147	NC_000010.11:g.(68989259_69000424)_(69005125_69005731)del	KIFBP	Deletion	Goldberg-Shprintzen syndrome	GPathogenic
Select item 183146	NM_015634.4(KIFBP):c.605_606del (p.Arg202fs)	KIFBP (R202fs)	Deletion (frameshift variant)	Goldberg-Shprintzen syndrome	GPathogenic
Select item 183145	NM_015634.4(KIFBP):c.599C>A (p.Ser200Ter)	KIFBP (S200*)	Single nucleotide variant (nonsense)	Goldberg-Shprintzen syndrome +1 more	GPathogenic
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 158699	NM_015634.4(KIFBP):c.78A>G (p.Lys26=)	KIFBP, LOC130003959	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 158698	NM_015634.4(KIFBP):c.68A>G (p.Glu23Gly)	KIFBP, LOC130003959 (E23G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 158697	NM_015634.4(KIFBP):c.518T>C (p.Met173Thr)	KIFBP (M173T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
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 158695	NM_015634.4(KIFBP):c.1761T>C (p.Pro587=)	KIFBP	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 158694	NM_015634.4(KIFBP):c.1653C>T (p.Ala551=)	KIFBP	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 158692	NM_015634.4(KIFBP):c.1023G>A (p.Gln341=)	KIFBP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1734	NM_015634.4(KIFBP):c.250G>T (p.Glu84Ter)	KIFBP (E84*)	Single nucleotide variant (nonsense)	Goldberg-Shprintzen syndrome	GPathogenic
Select item 1733	NM_015634.4(KIFBP):c.268C>T (p.Arg90Ter)	KIFBP (R90*)	Single nucleotide variant (nonsense)	Goldberg-Shprintzen syndrome	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 69