KIF6[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 144731	GRCh38/hg38 6p21.2(chr6:39127448-40287232)x3	DAAM2, DAAM2-AS1 +23 more	Copy number gain	See cases	GLikely benign
Select item 147293	GRCh38/hg38 6p21.2(chr6:39302297-39429561)x3	KCNK16, KCNK17 +5 more	Copy number gain	See cases	GBenign
Select item 2216380	NM_145027.6(KIF6):c.2389G>A (p.Ala797Thr)	KIF6 (A248T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056494	NM_145027.6(KIF6):c.2359G>A (p.Gly787Arg)	KIF6 (G238R +3 more)	Single nucleotide variant (missense variant)	KIF6-related disorder	GLikely benign
Select item 3114963	NM_145027.6(KIF6):c.2261C>T (p.Ser754Leu)	KIF6 (S205L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603035	NM_145027.6(KIF6):c.2246G>C (p.Arg749Thr)	KIF6 (R693T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1327417	NM_145027.6(KIF6):c.2155T>C (p.Trp719Arg)	KIF6 (W170R +3 more)	Single nucleotide variant (missense variant)	pravastatin response - Efficacy	Gdrug response
Select item 2315537	NM_145027.6(KIF6):c.2011A>G (p.Met671Val)	KIF6 (M122V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370874	NM_145027.6(KIF6):c.1919G>A (p.Arg640Gln)	KIF6 (R91Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303748	NM_145027.6(KIF6):c.1747A>C (p.Lys583Gln)	KIF6 (K527Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282565	NM_145027.6(KIF6):c.1730A>T (p.Asp577Val)	KIF6 (D577V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282564	NM_145027.6(KIF6):c.1729G>T (p.Asp577Tyr)	KIF6 (D577Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288654	NM_145027.6(KIF6):c.1726G>A (p.Asp576Asn)	KIF6 (D520N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227126	NM_145027.6(KIF6):c.1717G>A (p.Val573Ile)	KIF6 (V24I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488904	NM_145027.6(KIF6):c.1700G>C (p.Arg567Thr)	KIF6 (R18T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402947	NM_145027.6(KIF6):c.1690A>G (p.Ile564Val)	KIF6 (I15V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411410	NM_145027.6(KIF6):c.1654G>A (p.Glu552Lys)	KIF6 (E3K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288656	NM_145027.6(KIF6):c.1636A>G (p.Lys546Glu)	KIF6 (K546E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344403	NM_145027.6(KIF6):c.1528C>T (p.Pro510Ser)	KIF6 (P510S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114962	NM_145027.6(KIF6):c.1501C>G (p.Arg501Gly)	KIF6 (R501G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470633	NM_145027.6(KIF6):c.1475C>A (p.Ala492Asp)	KIF6 (A492D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365638	NM_145027.6(KIF6):c.1378G>A (p.Glu460Lys)	KIF6 (E460K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593248	NM_145027.6(KIF6):c.1366T>G (p.Leu456Val)	KIF6 (L456V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2299423	NM_145027.6(KIF6):c.1342A>G (p.Lys448Glu)	KIF6 (K448E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617611	NM_145027.6(KIF6):c.1339A>G (p.Ser447Gly)	KIF6 (S447G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262113	NM_145027.6(KIF6):c.1300G>A (p.Asp434Asn)	KIF6 (D434N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389227	NM_145027.6(KIF6):c.1276C>A (p.His426Asn)	KIF6 (H426N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114961	NM_145027.6(KIF6):c.1253T>C (p.Met418Thr)	KIF6 (M418T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288659	NM_145027.6(KIF6):c.1207T>G (p.Leu403Val)	KIF6 (L403V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340879	NM_145027.6(KIF6):c.1196T>C (p.Ile399Thr)	KIF6 (I399T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 619017	NM_145027.6(KIF6):c.1193del (p.Leu398fs)	KIF6 (L398fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2467377	NM_145027.6(KIF6):c.1156G>A (p.Ala386Thr)	KIF6 (A386T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114959	NM_145027.6(KIF6):c.1150A>G (p.Thr384Ala)	KIF6 (T384A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114958	NM_145027.6(KIF6):c.1022G>A (p.Arg341Gln)	KIF6 (R341Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526472	NM_145027.6(KIF6):c.940T>C (p.Cys314Arg)	KIF6 (C314R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383320	NM_145027.6(KIF6):c.901A>G (p.Met301Val)	KIF6 (M301V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537140	NM_145027.6(KIF6):c.878C>T (p.Ser293Leu)	KIF6 (S293L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212270	NM_145027.6(KIF6):c.802A>C (p.Thr268Pro)	KIF6 (T268P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394366	NM_145027.6(KIF6):c.721G>A (p.Val241Ile)	KIF6 (V241I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114967	NM_145027.6(KIF6):c.705A>T (p.Glu235Asp)	KIF6 (E235D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612553	NM_145027.6(KIF6):c.701A>G (p.Lys234Arg)	KIF6 (K234R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216759	NM_145027.6(KIF6):c.688C>A (p.His230Asn)	KIF6 (H230N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263905	NM_145027.6(KIF6):c.679T>C (p.Phe227Leu)	KIF6 (F227L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358581	NM_145027.6(KIF6):c.665G>A (p.Arg222His)	KIF6 (R222H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482004	NM_145027.6(KIF6):c.653A>G (p.Gln218Arg)	KIF6 (Q218R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114966	NM_145027.6(KIF6):c.574G>A (p.Ala192Thr)	KIF6 (A192T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241195	NM_145027.6(KIF6):c.545T>C (p.Ile182Thr)	KIF6 (I182T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114965	NM_145027.6(KIF6):c.540G>T (p.Gln180His)	KIF6 (Q180H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602173	NM_145027.6(KIF6):c.523C>A (p.Leu175Met)	KIF6 (L175M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323297	NM_145027.6(KIF6):c.449A>G (p.Asn150Ser)	KIF6 (N150S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609926	NM_145027.6(KIF6):c.230T>A (p.Ile77Asn)	KIF6 (I77N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213465	NM_145027.6(KIF6):c.217G>A (p.Val73Ile)	KIF6 (V73I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2460614	NM_145027.6(KIF6):c.193G>T (p.Asp65Tyr)	KIF6 (D65Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035224	NM_145027.6(KIF6):c.187A>G (p.Ile63Val)	KIF6 (I63V)	Single nucleotide variant (missense variant)	KIF6-related disorder	GLikely benign
Select item 3288655	NM_145027.6(KIF6):c.140G>A (p.Gly47Glu)	KIF6 (G47E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114960	NM_145027.6(KIF6):c.124C>A (p.Arg42Ser)	KIF6 (R42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288658	NM_145027.6(KIF6):c.112A>G (p.Ile38Val)	KIF6 (I38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277267	NM_145027.6(KIF6):c.79G>T (p.Asp27Tyr)	KIF6 (D27Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296006	NM_145027.6(KIF6):c.55C>T (p.His19Tyr)	KIF6 (H19Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288657	NM_145027.6(KIF6):c.43C>G (p.Pro15Ala)	KIF6 (P15A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548538	NM_145027.6(KIF6):c.16A>G (p.Ile6Val)	KIF6 (I6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2684445	GRCh37/hg19 6p21.2(chr6:39054113-40272338)x3	DAAM2, GLP1R +6 more	Copy number gain	not provided	GUncertain significance
Select item 687896	GRCh37/hg19 6p21.2(chr6:39604911-39649997)x1	KIF6	Copy number loss	not provided	GUncertain significance
Select item 687129	GRCh37/hg19 6p21.2(chr6:39201170-39473868)x3	KCNK16, KCNK17 +1 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 70