"PreventionGenetics, part of Exact Sciences"[submitter] AND "KIF7"[gen - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3033979	NM_198525.3(KIF7):c.4002G>T (p.Gly1334=)	KIF7	Single nucleotide variant (synonymous variant)	KIF7-related disorder	GLikely benign
Select item 129417	NM_198525.3(KIF7):c.3999G>C (p.Pro1333=)	KIF7	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 194996	NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln)	KIF7 (P1333Q)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1599449	NM_198525.3(KIF7):c.3964T>C (p.Ser1322Pro)	KIF7 (S1322P)	Single nucleotide variant (missense variant)	KIF7-related disorder +1 more	GBenign/Likely benign
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 386891	NM_198525.3(KIF7):c.3828C>T (p.Thr1276=)	KIF7	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 779450	NM_198525.3(KIF7):c.3810C>T (p.His1270=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GLikely benign
Select item 194999	NM_198525.3(KIF7):c.3795G>A (p.Thr1265=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +2 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 263152	NM_198525.3(KIF7):c.3665-18C>T	KIF7, LOC126862216	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 263151	NM_198525.3(KIF7):c.3589C>T (p.Leu1197=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 263150	NM_198525.3(KIF7):c.3582G>A (p.Glu1194=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1298637	NM_198525.3(KIF7):c.3525C>T (p.Leu1175=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	KIF7-related disorder +2 more	GLikely benign
Select item 1674074	NM_198525.3(KIF7):c.3518-4C>G	KIF7, LOC126862216	Single nucleotide variant (intron variant)	KIF7-related disorder +1 more	GLikely benign
Select item 263149	NM_198525.3(KIF7):c.3518-17C>T	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome +1 more	GLikely benign
Select item 129416	NM_198525.3(KIF7):c.3517+6C>T	KIF7, LOC126862216	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 286941	NM_198525.3(KIF7):c.3514C>A (p.Arg1172=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1651345	NM_198525.3(KIF7):c.3423C>G (p.Ala1141=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	KIF7-related disorder +1 more	GLikely benign
Select item 129415	NM_198525.3(KIF7):c.3345C>G (p.His1115Gln)	KIF7, LOC126862216 (H1115Q)	Single nucleotide variant (missense variant)	Hydrolethalus syndrome 2 +4 more	GBenign/Likely benign
Select item 509759	NM_198525.3(KIF7):c.3331C>A (p.Arg1111=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +2 more	GLikely benign
Select item 887162	NM_198525.3(KIF7):c.3225G>A (p.Ser1075=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GConflicting classifications of pathogenicity
Select item 531999	NM_198525.3(KIF7):c.3202C>T (p.Arg1068Trp)	KIF7 (R1068W)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +2 more	GConflicting classifications of pathogenicity
Select item 263148	NM_198525.3(KIF7):c.3201G>A (p.Gln1067=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GLikely benign
Select item 263147	NM_198525.3(KIF7):c.3192A>T (p.Thr1064=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GLikely benign
Select item 263145	NM_198525.3(KIF7):c.3112-11_3112-10insCT	KIF7	Insertion (intron variant)	not provided +4 more	GBenign
Select item 263146	NM_198525.3(KIF7):c.3112-17C>T	KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome +1 more	GLikely benign
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 +2 more	GConflicting classifications of pathogenicity
Select item 96653	NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg)	KIF7 (G1005R)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 129414	NM_198525.3(KIF7):c.3012C>T (p.Arg1004=)	KIF7	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2053745	NM_198525.3(KIF7):c.2896-7C>T	KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome +1 more	GLikely benign
Select item 96652	NM_198525.3(KIF7):c.2896-14G>A	KIF7	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 96651	NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile)	KIF7 (S958I)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 263143	NM_198525.3(KIF7):c.2776C>A (p.Arg926=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +2 more	GLikely benign
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 2064142	NM_198525.3(KIF7):c.2613G>C (p.Glu871Asp)	KIF7 (E871D)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +2 more	GUncertain significance
Select item 263142	NM_198525.3(KIF7):c.2592+11C>A	KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome +1 more	GBenign
Select item 1383297	NM_198525.3(KIF7):c.2551C>T (p.Arg851Cys)	KIF7 (R851C)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +2 more	GConflicting classifications of pathogenicity
Select item 724270	NM_198525.3(KIF7):c.2394+10G>A	KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome +1 more	GLikely benign
Select item 2021988	NM_198525.3(KIF7):c.2394+9C>T	KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome +1 more	GLikely benign
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 +1 more	GBenign
Select item 263141	NM_198525.3(KIF7):c.2192-13C>T	KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome +2 more	GConflicting classifications of pathogenicity
Select item 798140	NM_198525.3(KIF7):c.2173G>A (p.Gly725Ser)	KIF7 (G725S)	Single nucleotide variant (missense variant)	KIF7-related disorder +1 more	GLikely benign
Select item 263140	NM_198525.3(KIF7):c.2079C>A (p.Val693=)	KIF7	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 317363	NM_198525.3(KIF7):c.2077G>T (p.Val693Phe)	KIF7 (V693F)	Single nucleotide variant (missense variant)	KIF7-related disorder +2 more	GBenign/Likely benign
Select item 1495912	NM_198525.3(KIF7):c.2072G>A (p.Arg691His)	KIF7 (R691H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 129409	NM_198525.3(KIF7):c.2043T>A (p.Val681=)	KIF7	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1639057	NM_198525.3(KIF7):c.2028A>C (p.Pro676=)	KIF7	Single nucleotide variant (synonymous variant)	KIF7-related disorder +1 more	GLikely benign
Select item 2165143	NM_198525.3(KIF7):c.1904G>A (p.Arg635Gln)	KIF7 (R635Q)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +1 more	GUncertain significance
Select item 263139	NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys)	KIF7 (E629K)	Single nucleotide variant (missense variant)	Hydrolethalus syndrome 2 +4 more	GBenign/Likely benign
Select item 263138	NM_198525.3(KIF7):c.1788+13T>C	KIF7	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1651143	NM_198525.3(KIF7):c.1671G>A (p.Gly557=)	KIF7	Single nucleotide variant (synonymous variant)	KIF7-related disorder +1 more	GLikely benign
Select item 2628789	NM_198525.3(KIF7):c.1640dup (p.Arg549fs)	KIF7 (R549fs)	Duplication (frameshift variant)	KIF7-related disorder	GPathogenic
Select item 129405	NM_198525.3(KIF7):c.1444-4A>G	KIF7	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 3029296	NM_198525.3(KIF7):c.1416G>A (p.Gln472=)	KIF7	Single nucleotide variant (synonymous variant)	KIF7-related disorder	GLikely benign
Select item 435646	NM_198525.3(KIF7):c.1353C>A (p.Arg451=)	KIF7	Single nucleotide variant (synonymous variant)	KIF7-related disorder +1 more	GLikely benign
Select item 317367	NM_198525.3(KIF7):c.1296G>A (p.Leu432=)	KIF7	Single nucleotide variant (synonymous variant)	KIF7-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3058302	NM_198525.3(KIF7):c.1293G>C (p.Gly431=)	KIF7	Single nucleotide variant (synonymous variant)	KIF7-related disorder	GLikely benign
Select item 197900	NM_198525.3(KIF7):c.1266C>G (p.Leu422=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +2 more	GBenign/Likely benign
Select item 1569663	NM_198525.3(KIF7):c.1176A>G (p.Pro392=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GLikely benign
Select item 582482	NM_198525.3(KIF7):c.1164C>T (p.Gly388=)	KIF7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3036208	NM_198525.3(KIF7):c.1122T>G (p.Gly374=)	KIF7	Single nucleotide variant (synonymous variant)	KIF7-related disorder	GLikely benign
Select item 96649	NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala)	KIF7 (T368A)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
Select item 263137	NM_198525.3(KIF7):c.1086G>A (p.Glu362=)	KIF7	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1569201	NM_198525.3(KIF7):c.1083C>G (p.Ala361=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GLikely benign
Select item 317373	NM_198525.3(KIF7):c.952G>A (p.Ala318Thr)	KIF7 (A318T)	Single nucleotide variant (missense variant)	KIF7-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2079106	NM_198525.3(KIF7):c.918C>T (p.Ile306=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GLikely benign
Select item 2064143	NM_198525.3(KIF7):c.916A>G (p.Ile306Val)	KIF7 (I306V)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +1 more	GUncertain significance
Select item 1651682	NM_198525.3(KIF7):c.732C>G (p.Leu244=)	KIF7	Single nucleotide variant (synonymous variant)	KIF7-related disorder +1 more	GLikely benign
Select item 1164639	NM_198525.3(KIF7):c.710G>T (p.Arg237Leu)	KIF7 (R237L)	Single nucleotide variant (missense variant)	KIF7-related disorder +4 more	GBenign/Likely benign
Select item 2631446	NM_198525.3(KIF7):c.662_665dup (p.Val223fs)	KIF7 (V223fs)	Duplication (frameshift variant)	KIF7-related disorder	GLikely pathogenic
Select item 263155	NM_198525.3(KIF7):c.660C>A (p.Val220=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GLikely benign
Select item 263154	NM_198525.3(KIF7):c.636C>T (p.His212=)	KIF7	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
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 specified +3 more	GConflicting classifications of pathogenicity
Select item 723600	NM_198525.3(KIF7):c.465C>T (p.Asp155=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GLikely benign
Select item 1544865	NM_198525.3(KIF7):c.393C>T (p.Ile131=)	KIF7	Single nucleotide variant (synonymous variant)	KIF7-related disorder +1 more	GLikely benign
Select item 756178	NM_198525.3(KIF7):c.333C>T (p.Ser111=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GLikely benign
Select item 2632682	NM_198525.3(KIF7):c.329-1G>C	KIF7	Single nucleotide variant (splice acceptor variant)	KIF7-related disorder	GLikely pathogenic
Select item 3029132	NM_198525.3(KIF7):c.329-5C>T	KIF7	Single nucleotide variant (intron variant)	KIF7-related disorder	GLikely benign
Select item 263144	NM_198525.3(KIF7):c.294A>G (p.Ser98=)	KIF7	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 129410	NM_198525.3(KIF7):c.216G>A (p.Gln72=)	KIF7	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 709914	NM_198525.3(KIF7):c.195G>T (p.Ala65=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome +1 more	GLikely benign
Select item 129408	NM_198525.3(KIF7):c.195G>C (p.Ala65=)	KIF7	Single nucleotide variant (synonymous variant)	Hydrolethalus syndrome 2 +4 more	GBenign
Select item 129406	NM_198525.3(KIF7):c.154G>A (p.Asp52Asn)	KIF7 (D52N)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 1955086	NM_198525.3(KIF7):c.137G>A (p.Arg46His)	KIF7 (R46H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 263156	NM_198525.3(KIF7):c.96C>T (p.His32=)	KIF7	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2628473	NM_198525.3(KIF7):c.3G>A (p.Met1Ile)	KIF7 (M1I)	Single nucleotide variant (missense variant +1 more)	KIF7-related disorder	GUncertain significance
Select item 138059	NM_198525.3(KIF7):c.-5T>G	KIF7	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign/Likely benign

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Items: 91