KIFC3[gene] - ClinVar

Search results

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	CFAP20, LOC101927556 +520 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	MIR138-2, MIR140 +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 3288696	NM_001130100.2(KIFC3):c.1247G>A (p.Ser416Asn)	KIFC3 (S277N +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 3288694	NM_001130100.2(KIFC3):c.694C>T (p.Arg232Trp)	KIFC3 (R130W +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 3288695	NM_001130100.2(KIFC3):c.44C>T (p.Ser15Leu)	KIFC3 (S37L +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 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
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	NLRC5, PLLP +34 more	Deletion	not provided	GPathogenic
Select item 2426640	NC_000016.9:g.(?_56226148)_(58768132_?)del	ADGRG1, ADGRG3 +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	AARS1, ABCC11 +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	ADGRG1, ADGRG3 +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	CA7, COG8 +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	KCTD19, KIAA0513 +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	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +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	ABCC6, BCL7C +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	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 85