KIFC3[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 2346643	NM_001130100.2(KIFC3):c.2456G>A (p.Arg819Gln)	KIFC3 (R677Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287494	NM_001130100.2(KIFC3):c.2450C>A (p.Ser817Tyr)	KIFC3 (S675Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390875	NM_001130100.2(KIFC3):c.2440C>T (p.Arg814Cys)	KIFC3 (R675C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403348	NM_001130100.2(KIFC3):c.2387C>T (p.Thr796Met)	KIFC3 (T694M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556948	NM_001130100.2(KIFC3):c.2324G>A (p.Arg775His)	KIFC3 (R797H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306520	NM_001130100.2(KIFC3):c.2126C>G (p.Ala709Gly)	KIFC3 (A709G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115065	NM_001130100.2(KIFC3):c.2084A>G (p.Gln695Arg)	KIFC3 (Q717R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462265	NM_001130100.2(KIFC3):c.2000C>T (p.Thr667Met)	KIFC3 (T525M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513747	NM_001130100.2(KIFC3):c.1994G>A (p.Arg665His)	KIFC3 (R665H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379858	NM_001130100.2(KIFC3):c.1961C>T (p.Thr654Met)	KIFC3 (T512M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610261	NM_001130100.2(KIFC3):c.1906G>A (p.Glu636Lys)	KIFC3 (E494K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253311	NM_001130100.2(KIFC3):c.1837G>C (p.Glu613Gln)	KIFC3 (E471Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614322	NM_001130100.2(KIFC3):c.1714G>A (p.Val572Ile)	KIFC3 (V470I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115064	NM_001130100.2(KIFC3):c.1594G>A (p.Ala532Thr)	KIFC3 (A532T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777033	NM_001130100.2(KIFC3):c.1578G>A (p.Ala526=)	KIFC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2255083	NM_001130100.2(KIFC3):c.1577C>A (p.Ala526Glu)	KIFC3 (A424E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525305	NM_001130100.2(KIFC3):c.1502C>T (p.Ser501Leu)	KIFC3 (S443L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115063	NM_001130100.2(KIFC3):c.1421A>C (p.Asp474Ala)	KIFC3 (D335A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595719	NM_001130100.2(KIFC3):c.1420G>A (p.Asp474Asn)	KIFC3 (D496N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296090	NM_001130100.2(KIFC3):c.1400A>G (p.Asn467Ser)	KIFC3 (N409S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518316	NM_001130100.2(KIFC3):c.1372G>A (p.Glu458Lys)	KIFC3 (E319K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115062	NM_001130100.2(KIFC3):c.1297A>G (p.Lys433Glu)	KIFC3 (K433E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115061	NM_001130100.2(KIFC3):c.1288C>A (p.Gln430Lys)	KIFC3 (Q430K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254353	NM_001130100.2(KIFC3):c.1277G>C (p.Arg426Pro)	KIFC3 (R368P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590032	NM_001130100.2(KIFC3):c.1234G>A (p.Glu412Lys)	KIFC3 (E310K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603756	NM_001130100.2(KIFC3):c.1216G>A (p.Glu406Lys)	KIFC3 (E304K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531730	NM_001130100.2(KIFC3):c.1169G>A (p.Arg390His)	KIFC3 (R251H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553089	NM_001130100.2(KIFC3):c.1157A>G (p.Lys386Arg)	KIFC3 (K328R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115059	NM_001130100.2(KIFC3):c.1085C>A (p.Ala362Glu)	KIFC3 (A304E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336133	NM_001130100.2(KIFC3):c.1022G>C (p.Arg341Pro)	KIFC3 (R239P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115073	NM_001130100.2(KIFC3):c.968G>A (p.Arg323Gln)	KIFC3 (R184Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546214	NM_001130100.2(KIFC3):c.925C>T (p.Arg309Trp)	KIFC3 (R251W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301406	NM_001130100.2(KIFC3):c.902A>G (p.Gln301Arg)	KIFC3 (Q323R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378666	NM_001130100.2(KIFC3):c.860C>T (p.Ala287Val)	KIFC3 (A185V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513470	NM_001130100.2(KIFC3):c.856G>A (p.Val286Met)	KIFC3 (V228M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115072	NM_001130100.2(KIFC3):c.820G>A (p.Glu274Lys)	KIFC3 (E172K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559443	NM_001130100.2(KIFC3):c.812C>A (p.Ala271Asp)	KIFC3 (A169D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115071	NM_001130100.2(KIFC3):c.731T>C (p.Ile244Thr)	KIFC3 (I105T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338868	NM_001130100.2(KIFC3):c.661G>A (p.Asp221Asn)	KIFC3 (D119N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115068	NM_001130100.2(KIFC3):c.653G>A (p.Arg218Gln)	KIFC3 (R116Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555539	NM_001130100.2(KIFC3):c.506C>G (p.Pro169Arg)	KIFC3 (P111R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231617	NM_001130100.2(KIFC3):c.496G>A (p.Gly166Ser)	KIFC3 (G64S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115067	NM_001130100.2(KIFC3):c.455G>A (p.Arg152His)	KIFC3 (R174H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614138	NM_001130100.2(KIFC3):c.407G>A (p.Arg136Gln)	KIFC3 (R34Q +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2348753	NM_001130100.2(KIFC3):c.406C>T (p.Arg136Trp)	KIFC3 (R78W +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2270071	NM_001130100.2(KIFC3):c.406C>G (p.Arg136Gly)	KIFC3 (R136G +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2597216	NM_001130100.2(KIFC3):c.281C>T (p.Pro94Leu)	KIFC3 (P116L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2411370	NM_001130100.2(KIFC3):c.265G>A (p.Val89Met)	KIFC3 (V89M +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2291885	NM_001130100.2(KIFC3):c.232C>T (p.Arg78Cys)	KIFC3 (R78C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2253892	NM_001130100.2(KIFC3):c.128C>T (p.Ala43Val)	KIFC3 (A65V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346363	NM_001130100.2(KIFC3):c.116C>T (p.Pro39Leu)	KIFC3 (P39L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518695	NM_001130100.2(KIFC3):c.77C>G (p.Pro26Arg)	KIFC3 (P26R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534217	NM_001130100.2(KIFC3):c.76C>G (p.Pro26Ala)	KIFC3 (P26A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115070	NM_001130100.2(KIFC3):c.70C>T (p.Arg24Trp)	KIFC3 (R46W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219825	NM_001130100.2(KIFC3):c.20C>T (p.Thr7Met)	KIFC3 (T7M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 2426846	NC_000016.9:g.(?_57016057)_(58768132_?)del	KIFC3, MMP15 +34 more	Deletion	not provided	GPathogenic
Select item 2426640	NC_000016.9:g.(?_56226148)_(58768132_?)del	CCL17, CCL22 +54 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 980679	GRCh37/hg19 16q13-21(chr16:57292407-59103985)x1	CCL17, ADGRG1 +28 more	Copy number loss	not provided	GUncertain significance
Select item 808175	GRCh37/hg19 16q21(chr16:57499814-58032169)x3	ADGRG5, CCDC102A +10 more	Copy number gain	not provided	GUncertain significance
Select item 687857	GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3	ADGRG1, ADGRG3 +68 more	Copy number gain	not provided	GUncertain significance
Select item 564334	GRCh37/hg19 16q13-21(chr16:56950941-60203590)x1	ADGRG1, ADGRG3 +35 more	Copy number loss	not provided	GPathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	SLC7A6, SLC7A6OS +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 81