ClinVar for Gene (Select 9928) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 347

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374951	NM_014875.3(KIF14):c.1712_1746+27del	KIF14	Deletion (splice donor variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 3339840	NM_014875.3(KIF14):c.1746+4T>C	KIF14	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3337219	NM_014875.3(KIF14):c.3737T>C (p.Ile1246Thr)	KIF14 (I1246T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337217	NM_014875.3(KIF14):c.4363G>T (p.Glu1455Ter)	KIF14 (E1455* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3288300	NM_014875.3(KIF14):c.1129G>C (p.Ala377Pro)	KIF14 (A377P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3288299	NM_014875.3(KIF14):c.3892T>C (p.Ser1298Pro)	KIF14 (S1298P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288297	NM_014875.3(KIF14):c.3353A>C (p.Lys1118Thr)	KIF14 (K1118T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288296	NM_014875.3(KIF14):c.604G>T (p.Ala202Ser)	KIF14 (A202S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3288295	NM_014875.3(KIF14):c.1133C>T (p.Ser378Phe)	KIF14 (S378F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3288294	NM_014875.3(KIF14):c.4420T>C (p.Ser1474Pro)	KIF14 (S983P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288293	NM_014875.3(KIF14):c.904T>C (p.Ser302Pro)	KIF14 (S302P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3288292	NM_014875.3(KIF14):c.1825C>T (p.Arg609Cys)	KIF14 (R609C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288291	NM_014875.3(KIF14):c.4498G>T (p.Ala1500Ser)	KIF14 (A1009S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288290	NM_014875.3(KIF14):c.4657T>G (p.Ser1553Ala)	KIF14 (S1553A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288289	NM_014875.3(KIF14):c.2797A>G (p.Met933Val)	KIF14 (M442V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288288	NM_014875.3(KIF14):c.310G>T (p.Val104Phe)	KIF14 (V104F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3288286	NM_014875.3(KIF14):c.3485G>A (p.Gly1162Asp)	KIF14 (G1162D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3288285	NM_014875.3(KIF14):c.2527G>A (p.Val843Met)	KIF14 (V352M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257686	NM_014875.3(KIF14):c.3450G>T (p.Met1150Ile)	KIF14 (M1150I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257469	NM_014875.3(KIF14):c.3114+3A>G	KIF14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3254951	NM_014875.3(KIF14):c.378_383dup (p.Thr127_Asp128insGluThr)	KIF14	Duplication (5 prime UTR variant +1 more)	Microcephaly 20, primary, autosomal recessive	GUncertain significance
Select item 3251696	NM_014875.3(KIF14):c.2862G>A (p.Met954Ile)	KIF14 (M463I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3242257	NM_014875.3(KIF14):c.4475del (p.Asp1492fs)	KIF14 (D1001fs +1 more)	Deletion (frameshift variant)	Microcephaly 20, primary, autosomal recessive	GPathogenic
Select item 3114471	NM_014875.3(KIF14):c.863C>A (p.Thr288Lys)	KIF14 (T288K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3114470	NM_014875.3(KIF14):c.743T>G (p.Val248Gly)	KIF14 (V248G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3114469	NM_014875.3(KIF14):c.4942G>A (p.Val1648Met)	KIF14 (V1157M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114468	NM_014875.3(KIF14):c.4631A>T (p.Asp1544Val)	KIF14 (D1053V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114466	NM_014875.3(KIF14):c.3924T>G (p.Ile1308Met)	KIF14 (I1308M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114464	NM_014875.3(KIF14):c.3758T>C (p.Phe1253Ser)	KIF14 (F762S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114463	NM_014875.3(KIF14):c.3055G>A (p.Glu1019Lys)	KIF14 (E1019K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114462	NM_014875.3(KIF14):c.2727G>T (p.Arg909Ser)	KIF14 (R418S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114461	NM_014875.3(KIF14):c.2193A>T (p.Arg731Ser)	KIF14 (R240S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114460	NM_014875.3(KIF14):c.2170G>A (p.Ala724Thr)	KIF14 (A724T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114459	NM_014875.3(KIF14):c.1895C>T (p.Thr632Ile)	KIF14 (T632I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114458	NM_014875.3(KIF14):c.1840C>T (p.His614Tyr)	KIF14 (H123Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114457	NM_014875.3(KIF14):c.1706G>A (p.Arg569Gln)	KIF14 (R569Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114455	NM_014875.3(KIF14):c.1505T>C (p.Ile502Thr)	KIF14 (I502T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114454	NM_014875.3(KIF14):c.1286C>T (p.Ala429Val)	KIF14 (A429V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3075977	NM_014875.3(KIF14):c.3886+1G>A	KIF14	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3064686	NM_014875.3(KIF14):c.4072G>A (p.Gly1358Arg)	KIF14 (G1358R +1 more)	Single nucleotide variant (missense variant)	Microcephaly 20, primary, autosomal recessive	GUncertain significance
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 3052152	NM_014875.3(KIF14):c.843T>C (p.Cys281=)	KIF14	Single nucleotide variant (5 prime UTR variant +1 more)	KIF14-related disorder	GLikely benign
Select item 3049642	NM_014875.3(KIF14):c.1555-8T>G	KIF14	Single nucleotide variant (intron variant)	KIF14-related disorder	GLikely benign
Select item 3048620	NM_014875.3(KIF14):c.703T>C (p.Leu235=)	KIF14	Single nucleotide variant (5 prime UTR variant +1 more)	KIF14-related disorder	GLikely benign
Select item 3045595	NM_014875.3(KIF14):c.1639-5A>G	KIF14	Single nucleotide variant (intron variant)	KIF14-related disorder	GLikely benign
Select item 3041675	NM_014875.3(KIF14):c.79C>T (p.Leu27=)	KIF14	Single nucleotide variant (5 prime UTR variant +1 more)	KIF14-related disorder	GLikely benign
Select item 3039913	NM_014875.3(KIF14):c.4884C>T (p.Leu1628=)	KIF14	Single nucleotide variant (synonymous variant)	KIF14-related disorder	GLikely benign
Select item 3033849	NM_014875.3(KIF14):c.1515T>A (p.Leu505=)	KIF14	Single nucleotide variant (synonymous variant)	KIF14-related disorder	GLikely benign
Select item 3026996	NM_014875.3(KIF14):c.1897T>C (p.Leu633=)	KIF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006607	NM_014875.3(KIF14):c.4790A>G (p.Tyr1597Cys)	KIF14 (Y1106C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981647	NM_014875.3(KIF14):c.1456-11A>G	KIF14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967350	NM_014875.3(KIF14):c.2813+13T>C	KIF14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966528	NM_014875.3(KIF14):c.2362C>T (p.Gln788Ter)	KIF14 (Q297* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2956833	NM_014875.3(KIF14):c.3298A>C (p.Ile1100Leu)	KIF14 (I1100L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955216	NM_014875.3(KIF14):c.3566+15_3566+17del	KIF14	Deletion (intron variant)	not provided	GBenign
Select item 2920378	NM_014875.3(KIF14):c.1408T>A (p.Phe470Ile)	KIF14 (F470I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2910905	NM_014875.3(KIF14):c.4944G>A (p.Val1648=)	KIF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872766	NM_014875.3(KIF14):c.4071+12T>G	KIF14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2730367	NM_014875.3(KIF14):c.3994A>T (p.Thr1332Ser)	KIF14 (T841S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664235	NM_014875.3(KIF14):c.2813+2dup	KIF14	Duplication (splice donor variant)	Microcephaly 20, primary, autosomal recessive	GLikely pathogenic
Select item 2663497	NM_014875.3(KIF14):c.2216A>C (p.Glu739Ala)	KIF14 (E248A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639725	NM_014875.3(KIF14):c.521_522del (p.Phe174fs)	KIF14 (F174fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2639724	NM_014875.3(KIF14):c.1068T>C (p.Asn356=)	KIF14	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2639723	NM_014875.3(KIF14):c.1626C>T (p.Tyr542=)	KIF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639722	NM_014875.3(KIF14):c.1826G>A (p.Arg609His)	KIF14 (R118H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2639721	NM_014875.3(KIF14):c.2175G>A (p.Lys725=)	KIF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639720	NM_014875.3(KIF14):c.2229C>G (p.Leu743=)	KIF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639719	NM_014875.3(KIF14):c.3588C>T (p.Asn1196=)	KIF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639718	NM_014875.3(KIF14):c.3705G>A (p.Glu1235=)	KIF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639717	NM_014875.3(KIF14):c.3832C>T (p.Leu1278=)	KIF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639716	NM_014875.3(KIF14):c.4677T>C (p.Tyr1559=)	KIF14	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2624414	NM_014875.3(KIF14):c.1141G>C (p.Val381Leu)	KIF14 (V381L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614865	NM_014875.3(KIF14):c.3898G>C (p.Asp1300His)	KIF14 (D1300H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609812	NM_014875.3(KIF14):c.3582G>A (p.Met1194Ile)	KIF14 (M1194I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603121	NM_014875.3(KIF14):c.2660G>A (p.Arg887Gln)	KIF14 (R396Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599627	NM_014875.3(KIF14):c.1804A>G (p.Ile602Val)	KIF14 (I111V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2598431	NM_014875.3(KIF14):c.3526G>A (p.Asp1176Asn)	KIF14 (D685N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582301	NM_014875.3(KIF14):c.1270T>A (p.Tyr424Asn)	KIF14 (Y424N)	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	GUncertain significance
Select item 2580219	NM_014875.3(KIF14):c.3136C>T (p.Arg1046Cys)	KIF14 (R1046C +1 more)	Single nucleotide variant (missense variant)	Microcephaly 20, primary, autosomal recessive	GUncertain significance
Select item 2573572	NM_014875.3(KIF14):c.2354_2355del (p.Lys785fs)	KIF14 (K294fs +1 more)	Deletion (frameshift variant)	Microcephaly 20, primary, autosomal recessive	GPathogenic
Select item 2550114	NM_014875.3(KIF14):c.3946C>A (p.Gln1316Lys)	KIF14 (Q825K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548619	NM_014875.3(KIF14):c.241A>T (p.Thr81Ser)	KIF14 (T81S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544399	NM_014875.3(KIF14):c.4844G>A (p.Gly1615Asp)	KIF14 (G1615D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540134	NM_014875.3(KIF14):c.2074C>G (p.Leu692Val)	KIF14 (L201V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539516	NM_014875.3(KIF14):c.3970T>C (p.Trp1324Arg)	KIF14 (W833R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539472	NM_014875.3(KIF14):c.2480T>C (p.Val827Ala)	KIF14 (V336A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534059	NM_014875.3(KIF14):c.456A>T (p.Glu152Asp)	KIF14 (E152D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533829	NM_014875.3(KIF14):c.2420A>G (p.Asn807Ser)	KIF14 (N316S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516467	NM_014875.3(KIF14):c.1512C>A (p.Asp504Glu)	KIF14 (D504E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2497829	NM_014875.3(KIF14):c.2095C>T (p.Arg699Cys)	KIF14 (R208C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2493776	NM_014875.3(KIF14):c.845C>T (p.Thr282Ile)	KIF14 (T282I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2492236	NM_014875.3(KIF14):c.2754T>G (p.Ser918Arg)	KIF14 (S427R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491457	NM_014875.3(KIF14):c.4690A>G (p.Thr1564Ala)	KIF14 (T1564A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471185	NM_014875.3(KIF14):c.961T>C (p.Phe321Leu)	KIF14 (F321L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2457747	NM_014875.3(KIF14):c.3593G>A (p.Arg1198Lys)	KIF14 (R1198K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445895	NM_014875.3(KIF14):c.2218C>T (p.Arg740Ter)	KIF14 (R249* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2443156	NM_014875.3(KIF14):c.2040C>T (p.Pro680=)	KIF14	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2433123	NM_014875.3(KIF14):c.1127A>G (p.Lys376Arg)	KIF14 (K376R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance

<< First< Prev

Page of 4