ClinVar for MedGen (Select 162915) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023369	NM_198525.3(KIF7):c.350_353dup (p.Ile119fs)	KIF7 (I119fs)	Duplication (frameshift variant)	Acrocallosal syndrome	GPathogenic
Select item 3018575	NM_198525.3(KIF7):c.3665-7A>G	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 3018559	NM_198525.3(KIF7):c.3366G>C (p.Ser1122=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 3017900	NM_198525.3(KIF7):c.3999G>A (p.Pro1333=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 3013507	NM_198525.3(KIF7):c.2112C>T (p.Ala704=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 3010023	NM_198525.3(KIF7):c.1363A>T (p.Ser455Cys)	KIF7 (S455C)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 2988435	NM_198525.3(KIF7):c.1758A>G (p.Gly586=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2981357	NM_198525.3(KIF7):c.3171G>A (p.Glu1057=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2979834	NM_198525.3(KIF7):c.2463G>T (p.Leu821=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2974897	NM_198525.3(KIF7):c.759G>C (p.Leu253=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2960841	NM_198525.3(KIF7):c.2964G>C (p.Lys988Asn)	KIF7 (K988N)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 2956663	NM_198525.3(KIF7):c.3664+12T>C	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2920596	NM_198525.3(KIF7):c.924-6C>A	KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2920215	NM_198525.3(KIF7):c.2862G>A (p.Thr954=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2917006	NM_198525.3(KIF7):c.2896-3del	KIF7	Deletion (intron variant)	Acrocallosal syndrome	GBenign
Select item 2916343	NM_198525.3(KIF7):c.2898C>T (p.Ala966=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2913949	NM_198525.3(KIF7):c.231C>T (p.Pro77=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2913135	NM_198525.3(KIF7):c.1561-17T>C	KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2912907	NM_198525.3(KIF7):c.3433C>T (p.Gln1145Ter)	KIF7, LOC126862216 (Q1145*)	Single nucleotide variant (nonsense)	Acrocallosal syndrome	GPathogenic
Select item 2911785	NM_198525.3(KIF7):c.1566C>T (p.Asp522=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2911604	NM_198525.3(KIF7):c.1350G>A (p.Glu450=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2908555	NM_198525.3(KIF7):c.2304G>C (p.Glu768Asp)	KIF7 (E768D)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 2896224	NM_198525.3(KIF7):c.1560+7C>T	KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2895748	NM_198525.3(KIF7):c.2268G>A (p.Arg756=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2891469	NM_198525.3(KIF7):c.852C>T (p.Asn284=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2889931	NM_198525.3(KIF7):c.623C>A (p.Thr208Lys)	KIF7 (T208K)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 2886001	NM_198525.3(KIF7):c.3913C>A (p.Arg1305=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2883082	NM_198525.3(KIF7):c.1494G>T (p.Arg498=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2877149	NM_198525.3(KIF7):c.795C>A (p.Thr265=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2877064	NM_198525.3(KIF7):c.3600C>T (p.Tyr1200=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2870338	NM_198525.3(KIF7):c.93G>A (p.Leu31=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2869937	NM_198525.3(KIF7):c.2039-11G>C	KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2864940	NM_198525.3(KIF7):c.390C>G (p.Leu130=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2851014	NM_198525.3(KIF7):c.1704G>A (p.Leu568=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2847901	NM_198525.3(KIF7):c.2038+7_2038+18dup	KIF7	Duplication (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2841624	NM_198525.3(KIF7):c.186C>A (p.Ala62=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2840247	NM_198525.3(KIF7):c.3518-16G>T	LOC126862216, KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2839002	NM_198525.3(KIF7):c.4023C>T (p.Asn1341=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2837162	NM_198525.3(KIF7):c.726G>A (p.Gln242=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2832952	NM_198525.3(KIF7):c.3664+16G>C	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2832910	NM_198525.3(KIF7):c.2394+14C>T	KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2830193	NM_198525.3(KIF7):c.586C>T (p.Leu196=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2828862	NM_198525.3(KIF7):c.4002del (p.Gly1334_Met1335insTer)	KIF7	Deletion (frameshift variant)	Acrocallosal syndrome	GUncertain significance
Select item 2827463	NM_198525.3(KIF7):c.1329G>A (p.Trp443Ter)	KIF7 (W443*)	Single nucleotide variant (nonsense)	Acrocallosal syndrome	GPathogenic
Select item 2824840	NM_198525.3(KIF7):c.2719-18C>T	KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2824118	NM_198525.3(KIF7):c.780C>T (p.Leu260=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2820762	NM_198525.3(KIF7):c.2784G>T (p.Ala928=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2817452	NM_198525.3(KIF7):c.530-14T>G	KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2813994	NM_198525.3(KIF7):c.1443+11G>C	KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2812476	NM_198525.3(KIF7):c.1462C>T (p.Gln488Ter)	KIF7 (Q488*)	Single nucleotide variant (nonsense)	Acrocallosal syndrome	GPathogenic
Select item 2810289	NM_198525.3(KIF7):c.3453C>T (p.Arg1151=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2809850	NM_198525.3(KIF7):c.1407C>T (p.Val469=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2808976	NM_198525.3(KIF7):c.2051G>A (p.Ser684Asn)	KIF7 (S684N)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 2807811	NM_198525.3(KIF7):c.2770C>G (p.Gln924Glu)	KIF7 (Q924E)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 2805166	NM_198525.3(KIF7):c.3064C>T (p.Leu1022=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2803018	NM_198525.3(KIF7):c.2526T>G (p.Leu842=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2798141	NM_198525.3(KIF7):c.2370C>A (p.Val790=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2797482	NM_198525.3(KIF7):c.939G>C (p.Ser313=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2792112	NM_198525.3(KIF7):c.1140C>G (p.Ser380=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2788228	NM_198525.3(KIF7):c.2265G>A (p.Val755=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2780074	NM_198525.3(KIF7):c.1444-20C>A	KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2777966	NM_198525.3(KIF7):c.2811C>A (p.His937Gln)	KIF7 (H937Q)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 2770164	NM_198525.3(KIF7):c.1629A>G (p.Pro543=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2765674	NM_198525.3(KIF7):c.2131C>A (p.Arg711=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2761958	NM_198525.3(KIF7):c.1186A>C (p.Thr396Pro)	KIF7 (T396P)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 2761953	NM_198525.3(KIF7):c.2358C>A (p.Phe786Leu)	KIF7 (F786L)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 2759782	NM_198525.3(KIF7):c.2520G>A (p.Arg840=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2759392	NM_198525.3(KIF7):c.2896-8G>A	KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2755612	NM_198525.3(KIF7):c.3742C>T (p.Leu1248Phe)	KIF7 (L1248F)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 2751031	NM_198525.3(KIF7):c.2719-7T>G	KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2748557	NM_198525.3(KIF7):c.2743C>A (p.Leu915Met)	KIF7 (L915M)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 2747978	NM_198525.3(KIF7):c.3732G>T (p.Leu1244=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2745512	NM_198525.3(KIF7):c.1200G>A (p.Ala400=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2740257	NM_198525.3(KIF7):c.2269G>A (p.Ala757Thr)	KIF7 (A757T)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 2738120	NM_198525.3(KIF7):c.1926T>C (p.Asn642=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2737899	NM_198525.3(KIF7):c.249C>T (p.Phe83=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2729474	NM_198525.3(KIF7):c.3825G>A (p.Leu1275=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2726471	NM_198525.3(KIF7):c.534G>T (p.Leu178=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2724596	NM_198525.3(KIF7):c.3108C>A (p.Pro1036=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2723800	NM_198525.3(KIF7):c.3111+17T>C	KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2723505	NM_198525.3(KIF7):c.3318+14C>T	KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2722538	NM_198525.3(KIF7):c.687G>T (p.Gly229=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2721716	NM_198525.3(KIF7):c.2376G>A (p.Ala792=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2720821	NM_198525.3(KIF7):c.1443+19G>A	KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2718533	NM_198525.3(KIF7):c.3426G>A (p.Leu1142=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2709396	NM_198525.3(KIF7):c.867G>A (p.Leu289=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2702087	NM_198525.3(KIF7):c.1823del (p.Leu608fs)	KIF7 (L608fs)	Deletion (frameshift variant)	Acrocallosal syndrome	GPathogenic
Select item 2695567	NM_198525.3(KIF7):c.2082C>T (p.Pro694=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign
Select item 2695136	NM_198525.3(KIF7):c.3394C>T (p.Gln1132Ter)	KIF7, LOC126862216 (Q1132*)	Single nucleotide variant (nonsense)	Acrocallosal syndrome	GPathogenic
Select item 2503447	NM_198525.3(KIF7):c.2272G>T (p.Glu758Ter)	KIF7 (E758*)	Single nucleotide variant (nonsense)	Acrocallosal syndrome	GLikely pathogenic
Select item 2441700	NM_198525.3(KIF7):c.2895+1G>C	KIF7	Single nucleotide variant (splice donor variant)	Acrocallosal syndrome	GLikely pathogenic
Select item 2427659	NC_000015.9:g.(?_90173498)_(90188702_?)dup	KIF7	Duplication	Acrocallosal syndrome	GLikely pathogenic
Select item 2420213	NM_198525.3(KIF7):c.2719-5C>T	KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2416909	NM_198525.3(KIF7):c.3379C>G (p.Gln1127Glu)	KIF7, LOC126862216 (Q1127E)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 2416457	NM_198525.3(KIF7):c.3517+9C>A	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Acrocallosal syndrome	GLikely benign
Select item 2413909	NM_198525.3(KIF7):c.2993A>G (p.Gln998Arg)	KIF7 (Q998R)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 2263437	NM_198525.3(KIF7):c.3773C>A (p.Ala1258Asp)	KIF7 (A1258D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2202659	NM_198525.3(KIF7):c.3148G>A (p.Glu1050Lys)	KIF7 (E1050K)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 2202645	NM_198525.3(KIF7):c.715G>A (p.Ala239Thr)	KIF7 (A239T)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 2202385	NM_198525.3(KIF7):c.231C>G (p.Pro77=)	KIF7	Single nucleotide variant (synonymous variant)	Acrocallosal syndrome	GLikely benign

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