KIF16B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	SPEF1, SPTLC3 +571 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC105372493, LOC105372524 +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 145810	GRCh38/hg38 20p12.1(chr20:16073090-16628731)x3	KIF16B, LOC121627894 +7 more	Copy number gain	See cases	GBenign
Select item 2557434	NM_024704.5(KIF16B):c.3898T>C (p.Phe1300Leu)	KIF16B (F1249L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223909	NM_024704.5(KIF16B):c.3835G>A (p.Ala1279Thr)	KIF16B (A1279T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227603	NM_024704.5(KIF16B):c.3808G>A (p.Asp1270Asn)	KIF16B (D1219N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1185003	NM_024704.5(KIF16B):c.3773_3774del (p.Ala1258fs)	KIF16B (A1207fs +1 more)	Deletion (frameshift variant)	Muscular atrophy	GUncertain significance
Select item 2237963	NM_024704.5(KIF16B):c.3752A>G (p.Asn1251Ser)	KIF16B (N1200S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283567	NM_024704.5(KIF16B):c.3718G>T (p.Ala1240Ser)	KIF16B (A1240S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349394	NM_024704.5(KIF16B):c.3659G>A (p.Arg1220His)	KIF16B (R1220H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 804212	NM_024704.5(KIF16B):c.3611T>G (p.Phe1204Cys)	KIF16B (F1204C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2276999	NM_024704.5(KIF16B):c.3607G>A (p.Glu1203Lys)	KIF16B (E1203K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114502	NM_024704.5(KIF16B):c.3598G>T (p.Ala1200Ser)	KIF16B (A1149S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 444565	NM_024704.5(KIF16B):c.3572A>G (p.Tyr1191Cys)	KIF16B (Y1191C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2555063	NM_024704.5(KIF16B):c.3556A>G (p.Ile1186Val)	KIF16B (I1135V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1213735	NM_024704.5(KIF16B):c.3550A>G (p.Ile1184Val)	KIF16B (I1133V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3114499	NM_024704.5(KIF16B):c.3512G>A (p.Arg1171His)	KIF16B (R1171H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385811	NM_024704.5(KIF16B):c.3498+3406C>T	KIF16B (A1382V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114507	NM_024704.5(KIF16B):c.3498+3136T>C	KIF16B (I1732T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3114506	NM_024704.5(KIF16B):c.3498+3090G>A	KIF16B (V1277M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 871376	NM_024704.5(KIF16B):c.3498+3074C>G	KIF16B (N1271K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2247018	NM_024704.5(KIF16B):c.3498+3036T>C	KIF16B (S1699P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114505	NM_024704.5(KIF16B):c.3498+2952C>T	KIF16B (L1231F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114504	NM_024704.5(KIF16B):c.3498+2941T>C	KIF16B (M1227T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543271	NM_024704.5(KIF16B):c.3498+2939C>A	KIF16B (D1666E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384825	NM_024704.5(KIF16B):c.3498+2923A>G	KIF16B (Q1221R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114503	NM_024704.5(KIF16B):c.3498+2869C>T	KIF16B (T1203I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114501	NM_024704.5(KIF16B):c.3498+2844G>T	KIF16B (V1635F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114500	NM_024704.5(KIF16B):c.3498+2811T>C	KIF16B (C1624R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 871377	NM_024704.5(KIF16B):c.3481C>T (p.Arg1161Cys)	KIF16B (R1110C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2304206	NM_024704.5(KIF16B):c.3449A>G (p.Asp1150Gly)	KIF16B (D1110G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780600	NM_024704.5(KIF16B):c.3413G>A (p.Ser1138Asn)	KIF16B (S1087N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2335714	NM_024704.5(KIF16B):c.3386G>A (p.Arg1129His)	KIF16B (R1078H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3026445	NM_024704.5(KIF16B):c.3351G>C (p.Arg1117Ser)	KIF16B (R1066S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2247116	NM_024704.5(KIF16B):c.3299G>A (p.Ser1100Asn)	KIF16B (S1100N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382205	NM_024704.5(KIF16B):c.3244G>A (p.Asp1082Asn)	KIF16B (D1082N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114498	NM_024704.5(KIF16B):c.3233T>C (p.Ile1078Thr)	KIF16B (I1078T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332499	NM_024704.5(KIF16B):c.3158T>G (p.Leu1053Arg)	KIF16B (L1053R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341355	NM_024704.5(KIF16B):c.3098G>C (p.Arg1033Thr)	KIF16B (R1033T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553775	NM_024704.5(KIF16B):c.3081G>A (p.Met1027Ile)	KIF16B (M1027I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407854	NM_024704.5(KIF16B):c.3076G>T (p.Gly1026Cys)	KIF16B (G1026C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711242	NM_024704.5(KIF16B):c.3065A>G (p.His1022Arg)	KIF16B (H1022R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2248069	NM_024704.5(KIF16B):c.3062G>A (p.Arg1021Lys)	KIF16B (R1021K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481703	NM_024704.5(KIF16B):c.3029C>A (p.Ala1010Asp)	KIF16B (A1010D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114497	NM_024704.5(KIF16B):c.3019C>T (p.Arg1007Trp)	KIF16B (R1018W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114496	NM_024704.5(KIF16B):c.2966A>G (p.Lys989Arg)	KIF16B (K1000R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310177	NM_024704.5(KIF16B):c.2847G>T (p.Met949Ile)	KIF16B (M960I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412301	NM_024704.5(KIF16B):c.2791C>A (p.Leu931Ile)	KIF16B (L931I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590546	NM_024704.5(KIF16B):c.2686A>G (p.Lys896Glu)	KIF16B (K896E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210333	NM_024704.5(KIF16B):c.2661A>C (p.Glu887Asp)	KIF16B (E887D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483347	NM_024704.5(KIF16B):c.2613A>C (p.Glu871Asp)	KIF16B (E871D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2610260	NM_024704.5(KIF16B):c.2603A>G (p.His868Arg)	KIF16B (H868R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388247	NM_024704.5(KIF16B):c.2597G>T (p.Cys866Phe)	KIF16B (C877F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477056	NM_024704.5(KIF16B):c.2594A>G (p.Lys865Arg)	KIF16B (K865R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 983423	NM_024704.5(KIF16B):c.2586G>T (p.Glu862Asp)	KIF16B (E862D)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2588981	NM_024704.5(KIF16B):c.2578A>G (p.Ile860Val)	KIF16B (I860V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 996980	NM_024704.5(KIF16B):c.2564A>G (p.Gln855Arg)	KIF16B (Q855R)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2273813	NM_024704.5(KIF16B):c.2507T>C (p.Leu836Pro)	KIF16B (L836P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 872198	NM_024704.5(KIF16B):c.2446G>A (p.Glu816Lys)	KIF16B (E816K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3114493	NM_024704.5(KIF16B):c.2435A>T (p.Asp812Val)	KIF16B (D823V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114492	NM_024704.5(KIF16B):c.2342G>A (p.Arg781His)	KIF16B (R781H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474597	NM_024704.5(KIF16B):c.2339G>T (p.Arg780Leu)	KIF16B (R780L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308178	NM_024704.5(KIF16B):c.2296G>A (p.Glu766Lys)	KIF16B (E777K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114491	NM_024704.5(KIF16B):c.2237T>A (p.Leu746Gln)	KIF16B (L746Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270662	NM_024704.5(KIF16B):c.2235A>T (p.Glu745Asp)	KIF16B (E756D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212225	NM_024704.5(KIF16B):c.2212G>T (p.Asp738Tyr)	KIF16B (D738Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529939	NM_024704.5(KIF16B):c.2118A>C (p.Gln706His)	KIF16B (Q706H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508968	NM_024704.5(KIF16B):c.2113G>A (p.Val705Ile)	KIF16B (V705I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370664	NM_024704.5(KIF16B):c.2111G>A (p.Arg704His)	KIF16B (R715H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544638	NM_024704.5(KIF16B):c.1981C>T (p.Arg661Cys)	KIF16B (R672C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161567	NM_024704.5(KIF16B):c.1979G>A (p.Arg660His)	KIF16B (R660H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114490	NM_024704.5(KIF16B):c.1921C>A (p.Arg641Ser)	KIF16B (R641S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622193	NM_024704.5(KIF16B):c.1914G>T (p.Glu638Asp)	KIF16B (E638D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596993	NM_024704.5(KIF16B):c.1808G>A (p.Arg603His)	KIF16B (R614H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 996981	NM_024704.5(KIF16B):c.1754A>C (p.Asn585Thr)	KIF16B (N585T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 765003	NM_024704.5(KIF16B):c.1671C>T (p.Ala557=)	KIF16B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2537376	NM_024704.5(KIF16B):c.1629G>C (p.Leu543Phe)	KIF16B (L543F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482098	NM_024704.5(KIF16B):c.1594G>A (p.Ala532Thr)	KIF16B (A532T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161566	NM_024704.5(KIF16B):c.1588G>A (p.Val530Met)	KIF16B (V530M)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 777518	NM_024704.5(KIF16B):c.1587C>T (p.Ile529=)	KIF16B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2511093	NM_024704.5(KIF16B):c.1532C>T (p.Thr511Ile)	KIF16B (T511I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399753	NM_024704.5(KIF16B):c.1503G>C (p.Glu501Asp)	KIF16B (E501D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114489	NM_024704.5(KIF16B):c.1487T>C (p.Leu496Pro)	KIF16B (L496P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260673	NM_024704.5(KIF16B):c.1382A>G (p.Asp461Gly)	KIF16B (D461G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601029	NM_024704.5(KIF16B):c.1213G>A (p.Glu405Lys)	KIF16B (E405K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363970	NM_024704.5(KIF16B):c.1162G>A (p.Ala388Thr)	KIF16B (A388T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320907	NM_024704.5(KIF16B):c.1106A>G (p.Asn369Ser)	KIF16B (N369S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269486	NM_024704.5(KIF16B):c.1090A>G (p.Ile364Val)	KIF16B (I364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348713	NM_024704.5(KIF16B):c.1040G>A (p.Ser347Asn)	KIF16B (S347N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267986	NM_024704.5(KIF16B):c.853G>A (p.Val285Ile)	KIF16B (V285I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338826	NM_024704.5(KIF16B):c.796G>A (p.Gly266Arg)	KIF16B (G266R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611025	NM_024704.5(KIF16B):c.712T>A (p.Ser238Thr)	KIF16B (S238T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287850	NM_024704.5(KIF16B):c.637G>A (p.Ala213Thr)	KIF16B (A213T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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