ClinVar for Gene (Select 26128) - ClinVar - NCBI

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	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 3342243	GRCh37/hg19 10q22.1(chr10:70760180-70760278)x1	KIFBP	Copy number loss	not provided	GUncertain significance
Select item 3341950	NM_015634.4(KIFBP):c.1525_1530del (p.Leu509_Asn510del)	KIFBP	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3288680	NM_015634.4(KIFBP):c.1532A>G (p.Lys511Arg)	KIFBP (K511R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288679	NM_015634.4(KIFBP):c.1303T>G (p.Phe435Val)	KIFBP (F435V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288678	NM_015634.4(KIFBP):c.133G>A (p.Glu45Lys)	KIFBP, LOC130003959 (E45K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288677	NM_015634.4(KIFBP):c.1465G>T (p.Val489Phe)	KIFBP (V489F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288676	NM_015634.4(KIFBP):c.790C>T (p.Leu264=)	KIFBP	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288675	NM_015634.4(KIFBP):c.396C>A (p.His132Gln)	KIFBP (H132Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288674	NM_015634.4(KIFBP):c.1648G>A (p.Val550Ile)	KIFBP (V550I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288673	NM_015634.4(KIFBP):c.419A>G (p.Gln140Arg)	KIFBP (Q140R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250853	NM_015634.4(KIFBP):c.258C>T (p.Pro86=)	KIFBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3115024	NM_015634.4(KIFBP):c.991-3C>T	KIFBP	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3115023	NM_015634.4(KIFBP):c.883G>A (p.Ala295Thr)	KIFBP (A295T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115022	NM_015634.4(KIFBP):c.679G>A (p.Ala227Thr)	KIFBP (A227T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115021	NM_015634.4(KIFBP):c.656A>G (p.Gln219Arg)	KIFBP (Q219R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115020	NM_015634.4(KIFBP):c.584C>G (p.Thr195Ser)	KIFBP (T195S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115019	NM_015634.4(KIFBP):c.553G>A (p.Glu185Lys)	KIFBP (E185K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115018	NM_015634.4(KIFBP):c.439A>G (p.Ile147Val)	KIFBP (I147V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115017	NM_015634.4(KIFBP):c.406T>A (p.Ser136Thr)	KIFBP (S136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115016	NM_015634.4(KIFBP):c.385C>G (p.Arg129Gly)	KIFBP (R129G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115015	NM_015634.4(KIFBP):c.317T>C (p.Ile106Thr)	KIFBP (I106T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115014	NM_015634.4(KIFBP):c.1655G>T (p.Arg552Leu)	KIFBP (R552L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115013	NM_015634.4(KIFBP):c.1655G>A (p.Arg552His)	KIFBP (R552H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115012	NM_015634.4(KIFBP):c.1654C>T (p.Arg552Cys)	KIFBP (R552C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115011	NM_015634.4(KIFBP):c.1598A>C (p.Glu533Ala)	KIFBP (E533A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115010	NM_015634.4(KIFBP):c.1537G>T (p.Ala513Ser)	KIFBP (A513S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115009	NM_015634.4(KIFBP):c.1507G>T (p.Val503Leu)	KIFBP (V503L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115008	NM_015634.4(KIFBP):c.1409A>G (p.Asn470Ser)	KIFBP (N470S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115007	NM_015634.4(KIFBP):c.1327C>T (p.Arg443Trp)	KIFBP (R443W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115006	NM_015634.4(KIFBP):c.1282G>T (p.Ala428Ser)	KIFBP (A428S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115005	NM_015634.4(KIFBP):c.1126G>A (p.Ala376Thr)	KIFBP (A376T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115004	NM_015634.4(KIFBP):c.1062GGA[1] (p.Glu356del)	KIFBP (E356del)	Microsatellite (inframe_deletion)	not specified	GUncertain significance
Select item 3115003	NM_015634.4(KIFBP):c.1010A>G (p.Asp337Gly)	KIFBP (D337G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115002	NM_015634.4(KIFBP):c.1004A>G (p.Glu335Gly)	KIFBP (E335G)	Single nucleotide variant (missense variant)	not specified	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 3023445	NM_015634.4(KIFBP):c.526-16T>C	KIFBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980773	NM_015634.4(KIFBP):c.875-15A>G	KIFBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974399	NM_015634.4(KIFBP):c.875-13A>G	KIFBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960709	NM_015634.4(KIFBP):c.693C>T (p.Cys231=)	KIFBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956778	NM_015634.4(KIFBP):c.606-14T>C	KIFBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2715667	NM_015634.4(KIFBP):c.1102G>A (p.Gly368Ser)	KIFBP (G368S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2697358	NM_015634.4(KIFBP):c.855G>A (p.Lys285=)	KIFBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2640542	NM_015634.4(KIFBP):c.1101C>T (p.Thr367=)	KIFBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640541	NM_015634.4(KIFBP):c.819A>G (p.Leu273=)	KIFBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617004	NM_015634.4(KIFBP):c.1814G>A (p.Ser605Asn)	KIFBP (S605N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600449	NM_015634.4(KIFBP):c.1685C>T (p.Pro562Leu)	KIFBP (P562L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600129	NM_015634.4(KIFBP):c.756T>G (p.Asn252Lys)	KIFBP (N252K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592018	NM_015634.4(KIFBP):c.1136A>G (p.Glu379Gly)	KIFBP (E379G)	Single nucleotide variant (missense variant)	not specified	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 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2555064	NM_015634.4(KIFBP):c.209G>C (p.Gly70Ala)	KIFBP (G70A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475621	NM_015634.4(KIFBP):c.1163A>G (p.Asp388Gly)	KIFBP (D388G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465665	NM_015634.4(KIFBP):c.1075C>T (p.Arg359Trp)	KIFBP (R359W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463726	NM_015634.4(KIFBP):c.669G>A (p.Met223Ile)	KIFBP (M223I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2414924	NM_015634.4(KIFBP):c.710G>A (p.Arg237His)	KIFBP (R237H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182746	NM_015634.4(KIFBP):c.1104T>C (p.Gly368=)	KIFBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181569	NM_015634.4(KIFBP):c.1205A>G (p.Tyr402Cys)	KIFBP (Y402C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173082	NM_015634.4(KIFBP):c.973G>A (p.Ala325Thr)	KIFBP (A325T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140192	NM_015634.4(KIFBP):c.778T>A (p.Tyr260Asn)	KIFBP (Y260N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116919	NM_015634.4(KIFBP):c.874+10C>T	KIFBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2082493	NM_015634.4(KIFBP):c.1092G>A (p.Gln364=)	KIFBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2074970	NM_015634.4(KIFBP):c.1468G>A (p.Ala490Thr)	KIFBP (A490T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074969	NM_015634.4(KIFBP):c.733C>T (p.His245Tyr)	KIFBP (H245Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062843	NM_015634.4(KIFBP):c.317T>A (p.Ile106Asn)	KIFBP (I106N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2048269	NM_015634.4(KIFBP):c.387G>T (p.Arg129=)	KIFBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2011961	NM_015634.4(KIFBP):c.1813A>G (p.Ser605Gly)	KIFBP (S605G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2004337	NM_015634.4(KIFBP):c.1054C>T (p.Leu352=)	KIFBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1957677	NM_015634.4(KIFBP):c.1520A>G (p.Asn507Ser)	KIFBP (N507S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928542	NM_015634.4(KIFBP):c.605+1G>A	KIFBP	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1912602	NM_015634.4(KIFBP):c.751A>G (p.Ile251Val)	KIFBP (I251V)	Single nucleotide variant (missense variant)	not provided	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 1803316	NM_015634.4(KIFBP):c.1328G>A (p.Arg443Gln)	KIFBP (R443Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703329	NM_015634.4(KIFBP):c.557G>A (p.Arg186His)	KIFBP (R186H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1694469	NM_015634.4(KIFBP):c.128_132dup (p.Glu45fs)	KIFBP, LOC130003959 (E45fs)	Duplication (frameshift variant)	Goldberg-Shprintzen syndrome	GPathogenic
Select item 1681422	NM_015634.4(KIFBP):c.1540C>T (p.Leu514=)	KIFBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1681421	NM_015634.4(KIFBP):c.1449T>A (p.Asp483Glu)	KIFBP (D483E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1681420	NM_015634.4(KIFBP):c.1221A>C (p.Lys407Asn)	KIFBP (K407N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681419	NM_015634.4(KIFBP):c.1076G>A (p.Arg359Gln)	KIFBP (R359Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1681418	NM_015634.4(KIFBP):c.1034G>A (p.Arg345Lys)	KIFBP (R345K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681417	NM_015634.4(KIFBP):c.991-13T>C	KIFBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681416	NM_015634.4(KIFBP):c.965T>C (p.Met322Thr)	KIFBP (M322T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1681415	NM_015634.4(KIFBP):c.792A>G (p.Leu264=)	KIFBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1681414	NM_015634.4(KIFBP):c.667A>T (p.Met223Leu)	KIFBP (M223L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681413	NM_015634.4(KIFBP):c.526-11_526-9del	KIFBP	Deletion (intron variant)	not provided	GLikely benign
Select item 1681412	NM_015634.4(KIFBP):c.427-13C>T	KIFBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681411	NM_015634.4(KIFBP):c.387G>A (p.Arg129=)	KIFBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1681410	NM_015634.4(KIFBP):c.231G>A (p.Pro77=)	KIFBP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1681409	NM_015634.4(KIFBP):c.155C>T (p.Pro52Leu)	KIFBP (P52L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1675421	NM_015634.4(KIFBP):c.1110G>A (p.Leu370=)	KIFBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1444876	NC_000010.10:g.(?_67680088)_(71332799_?)del	ATOH7, CCAR1 +24 more	Deletion	not provided	GPathogenic
Select item 1334756	NM_015634.4(KIFBP):c.47C>T (p.Ala16Val)	KIFBP, LOC130003959 (A16V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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