"Eurofins Ntd Llc (ga)"[submitter] AND "KIF7"[gene] - ClinVar

Search results

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 194996	NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln)	KIF7 (P1333Q)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +1 more	GConflicting classifications of pathogenicity
Select item 263153	NM_198525.3(KIF7):c.3960T>A (p.Pro1320=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +2 more	GConflicting classifications of pathogenicity
Select item 195000	NM_198525.3(KIF7):c.3944C>T (p.Pro1315Leu)	KIF7 (P1315L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 194998	NM_198525.3(KIF7):c.3914G>A (p.Arg1305Gln)	KIF7 (R1305Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 596874	NM_198525.3(KIF7):c.3842G>T (p.Ser1281Ile)	KIF7 (S1281I)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Al-Gazali type +2 more	GConflicting classifications of pathogenicity
Select item 194999	NM_198525.3(KIF7):c.3795G>A (p.Thr1265=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GConflicting classifications of pathogenicity
Select item 595535	NM_198525.3(KIF7):c.3753G>T (p.Leu1251=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GConflicting classifications of pathogenicity
Select item 596870	NM_198525.3(KIF7):c.3738C>G (p.Pro1246=)	KIF7	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 194997	NM_198525.3(KIF7):c.3665-5G>A	KIF7, LOC126862216	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 129416	NM_198525.3(KIF7):c.3517+6C>T	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Multiple epiphyseal dysplasia, Al-Gazali type +4 more	GBenign
Select item 286941	NM_198525.3(KIF7):c.3514C>A (p.Arg1172=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GConflicting classifications of pathogenicity
Select item 291007	NM_198525.3(KIF7):c.3451C>T (p.Arg1151Cys)	KIF7, LOC126862216 (R1151C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 500277	NM_198525.3(KIF7):c.3428A>G (p.Glu1143Gly)	KIF7, LOC126862216 (E1143G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 499405	NM_198525.3(KIF7):c.3409T>C (p.Trp1137Arg)	KIF7, LOC126862216 (W1137R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129415	NM_198525.3(KIF7):c.3345C>G (p.His1115Gln)	KIF7, LOC126862216 (H1115Q)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +4 more	GBenign/Likely benign
Select item 598080	NM_198525.3(KIF7):c.3264C>T (p.Leu1088=)	KIF7	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 194686	NM_198525.3(KIF7):c.3211C>T (p.Arg1071Trp)	KIF7 (R1071W)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +1 more	GUncertain significance
Select item 501985	NM_198525.3(KIF7):c.3196C>T (p.Arg1066Cys)	KIF7 (R1066C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 263145	NM_198525.3(KIF7):c.3112-11_3112-10insCT	KIF7	Insertion (intron variant)	Hydrolethalus syndrome 2 +4 more	GBenign
Select item 284025	NM_198525.3(KIF7):c.3111+9C>A	KIF7	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 194571	NM_198525.3(KIF7):c.3100C>T (p.Leu1034=)	KIF7	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 96655	NM_198525.3(KIF7):c.3048G>A (p.Ser1016=)	KIF7	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 96654	NM_198525.3(KIF7):c.3021C>T (p.Ile1007=)	KIF7	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 96653	NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg)	KIF7 (G1005R)	Single nucleotide variant (missense variant)	Hydrolethalus syndrome 2 +4 more	GBenign
Select item 194572	NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg)	KIF7 (Q994R)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +1 more	GBenign/Likely benign
Select item 194573	NM_198525.3(KIF7):c.2960A>T (p.Glu987Val)	KIF7 (E987V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501276	NM_198525.3(KIF7):c.2959G>A (p.Glu987Lys)	KIF7 (E987K)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 281897	NM_198525.3(KIF7):c.2930G>A (p.Arg977Gln)	KIF7 (R977Q)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +1 more	GUncertain significance
Select item 288336	NM_198525.3(KIF7):c.2917C>G (p.Arg973Gly)	KIF7 (R973G)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 281454	NM_198525.3(KIF7):c.2897C>T (p.Ala966Val)	KIF7 (A966V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96652	NM_198525.3(KIF7):c.2896-14G>A	KIF7	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 96651	NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile)	KIF7 (S958I)	Single nucleotide variant (missense variant)	Hydrolethalus syndrome 2 +4 more	GBenign
Select item 287636	NM_198525.3(KIF7):c.2861C>T (p.Thr954Met)	KIF7 (T954M)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +2 more	GConflicting classifications of pathogenicity
Select item 96650	NM_198525.3(KIF7):c.2719-28CCCT[8]	KIF7	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 194289	NM_198525.3(KIF7):c.2672G>C (p.Arg891Thr)	KIF7 (R891T)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +2 more	GUncertain significance
Select item 129413	NM_198525.3(KIF7):c.2658A>C (p.Ala886=)	KIF7	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 501240	NM_198525.3(KIF7):c.2602C>T (p.Leu868=)	KIF7	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 194139	NM_198525.3(KIF7):c.2586C>T (p.Arg862=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GConflicting classifications of pathogenicity
Select item 286294	NM_198525.3(KIF7):c.2585G>A (p.Arg862His)	KIF7 (R862H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 596872	NM_198525.3(KIF7):c.2549G>T (p.Arg850Leu)	KIF7 (R850L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 252807	NM_198525.3(KIF7):c.2501A>G (p.Gln834Arg)	KIF7 (Q834R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 499469	NM_198525.3(KIF7):c.2456A>C (p.Lys819Thr)	KIF7 (K819T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 317355	NM_198525.3(KIF7):c.2426G>A (p.Arg809Gln)	KIF7 (R809Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 283078	NM_198525.3(KIF7):c.2420C>T (p.Thr807Met)	KIF7 (T807M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 193948	NM_198525.3(KIF7):c.2335G>C (p.Glu779Gln)	KIF7 (E779Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 129411	NM_198525.3(KIF7):c.2271C>T (p.Ala757=)	KIF7	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 284660	NM_198525.3(KIF7):c.2237G>A (p.Arg746Gln)	KIF7 (R746Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 193949	NM_198525.3(KIF7):c.2236C>T (p.Arg746Trp)	KIF7 (R746W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 287395	NM_198525.3(KIF7):c.2219A>G (p.Gln740Arg)	KIF7 (Q740R)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +1 more	GUncertain significance
Select item 597027	NM_198525.3(KIF7):c.2191+8G>A	KIF7	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 500202	NM_198525.3(KIF7):c.2191+7C>T	KIF7	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 286561	NM_198525.3(KIF7):c.2105G>A (p.Arg702Gln)	KIF7 (R702Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 199198	NM_198525.3(KIF7):c.1958C>T (p.Ala653Val)	KIF7 (A653V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 129407	NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu)	KIF7 (P632L)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +2 more	GBenign/Likely benign
Select item 263139	NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys)	KIF7 (E629K)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +4 more	GBenign/Likely benign
Select item 263138	NM_198525.3(KIF7):c.1788+13T>C	KIF7	Single nucleotide variant (intron variant)	Hydrolethalus syndrome 2 +4 more	GBenign
Select item 500181	NM_198525.3(KIF7):c.1740G>A (p.Pro580=)	KIF7	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 129405	NM_198525.3(KIF7):c.1444-4A>G	KIF7	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 287674	NM_198525.3(KIF7):c.1444-9G>A	KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome +1 more	GConflicting classifications of pathogenicity
Select item 197899	NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr)	KIF7 (A477T)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +4 more	GBenign/Likely benign
Select item 197903	NM_198525.3(KIF7):c.1418C>G (p.Ala473Gly)	KIF7 (A473G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197902	NM_198525.3(KIF7):c.1360C>T (p.Leu454=)	KIF7	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 197898	NM_198525.3(KIF7):c.1270C>T (p.Arg424Cys)	KIF7 (R424C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 197900	NM_198525.3(KIF7):c.1266C>G (p.Leu422=)	KIF7	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 129404	NM_198525.3(KIF7):c.1220C>A (p.Ala407Asp)	KIF7 (A407D)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 282376	NM_198525.3(KIF7):c.1189G>A (p.Ala397Thr)	KIF7 (A397T)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +2 more	GBenign
Select item 283923	NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys)	KIF7 (G393C)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Al-Gazali type +4 more	GConflicting classifications of pathogenicity
Select item 593465	NM_198525.3(KIF7):c.1162G>A (p.Gly388Ser)	KIF7 (G388S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96649	NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala)	KIF7 (T368A)	Single nucleotide variant (missense variant)	Hydrolethalus syndrome 2 +4 more	GBenign
Select item 197901	NM_198525.3(KIF7):c.1093C>A (p.Pro365Thr)	KIF7 (P365T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 285039	NM_198525.3(KIF7):c.1077C>G (p.Pro359=)	KIF7	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 499464	NM_198525.3(KIF7):c.1025A>T (p.Tyr342Phe)	KIF7 (Y342F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 594036	NM_198525.3(KIF7):c.978C>T (p.Val326=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GConflicting classifications of pathogenicity
Select item 502504	NM_198525.3(KIF7):c.741G>T (p.Lys247Asn)	KIF7 (K247N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197399	NM_198525.3(KIF7):c.705A>C (p.Leu235=)	KIF7	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 96657	NM_198525.3(KIF7):c.612C>T (p.His204=)	KIF7	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 96656	NM_198525.3(KIF7):c.516G>A (p.Glu172=)	KIF7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 196603	NM_198525.3(KIF7):c.510A>G (p.Glu170=)	KIF7	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 497451	NM_198525.3(KIF7):c.490C>G (p.Arg164Gly)	KIF7 (R164G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 463144	NM_198525.3(KIF7):c.461G>A (p.Arg154Gln)	KIF7 (R154Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 196602	NM_198525.3(KIF7):c.336C>T (p.Leu112=)	KIF7	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 129408	NM_198525.3(KIF7):c.195G>C (p.Ala65=)	KIF7	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 195440	NM_198525.3(KIF7):c.160C>T (p.His54Tyr)	KIF7 (H54Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129406	NM_198525.3(KIF7):c.154G>A (p.Asp52Asn)	KIF7 (D52N)	Single nucleotide variant (missense variant)	Hydrolethalus syndrome 2 +4 more	GBenign
Select item 288230	NM_198525.3(KIF7):c.72A>C (p.Pro24=)	KIF7	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 195441	NM_198525.3(KIF7):c.61C>T (p.Arg21Ter)	KIF7 (R21*)	Single nucleotide variant (nonsense)	Acrocallosal syndrome +1 more	GPathogenic/Likely pathogenic
Select item 129418	NM_198525.3(KIF7):c.49C>T (p.Arg17Trp)	KIF7 (R17W)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +2 more	GBenign
Select item 138059	NM_198525.3(KIF7):c.-5T>G	KIF7	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign

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Items: 88