VIM[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 153711	GRCh38/hg38 10p13(chr10:16711539-17263602)x3	CUBN, LOC111501766 +23 more	Copy number gain	See cases	GUncertain significance
Select item 1316887	NM_003380.5(VIM):c.-147-284C>T	VIM, VIM-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246121	NM_003380.5(VIM):c.-147-165G>C	VIM, VIM-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316913	NM_003380.5(VIM):c.-147-69G>C	VIM, VIM-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277994	NM_003380.5(VIM):c.-27C>T	VIM, VIM-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1277763	NM_003380.5(VIM):c.-22G>C	VIM, VIM-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 217338	NM_003380.5(VIM):c.15del (p.Val6fs)	VIM-AS1, VIM (V6fs)	Deletion (non-coding transcript variant +1 more)	Cataract 30 +1 more	GPathogenic/Likely pathogenic
Select item 806442	NM_003380.5(VIM):c.23C>T (p.Ser8Leu)	VIM, VIM-AS1 (S8L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1699008	NM_003380.5(VIM):c.46G>A (p.Gly16Ser)	VIM, VIM-AS1 (G16S)	Single nucleotide variant (non-coding transcript variant +1 more)	Cataract 30	GUncertain significance
Select item 2606641	NM_003380.5(VIM):c.55G>A (p.Gly19Ser)	VIM, VIM-AS1 (G19S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2872982	NM_003380.5(VIM):c.82C>G (p.Arg28Gly)	VIM, VIM-AS1 (R28G)	Single nucleotide variant (non-coding transcript variant +1 more)	Cataract 30	GUncertain significance
Select item 2303431	NM_003380.5(VIM):c.89A>G (p.Tyr30Cys)	VIM, VIM-AS1 (Y30C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2336353	NM_003380.5(VIM):c.91G>C (p.Val31Leu)	VIM, VIM-AS1 (V31L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 703473	NM_003380.5(VIM):c.99G>T (p.Thr33=)	VIM-AS1, VIM	Single nucleotide variant (non-coding transcript variant +1 more)	VIM-related disorder +1 more	GBenign/Likely benign
Select item 1353044	NM_003380.5(VIM):c.134G>A (p.Arg45His)	VIM, VIM-AS1 (R45H)	Single nucleotide variant (non-coding transcript variant +1 more)	Cataract 30	GUncertain significance
Select item 541104	NM_003380.5(VIM):c.167C>A (p.Ser56Tyr)	LOC130003452, VIM +1 more (S56Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Cataract 30	GUncertain significance
Select item 3188560	NM_003380.5(VIM):c.209T>C (p.Leu70Pro)	LOC130003452, VIM +1 more (L70P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3188561	NM_003380.5(VIM):c.216C>G (p.Ser72Arg)	LOC130003452, VIM +1 more (S72R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2519548	NM_003380.5(VIM):c.229G>A (p.Val77Met)	LOC130003452, VIM +1 more (V77M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3188562	NM_003380.5(VIM):c.276C>G (p.Ile92Met)	VIM, VIM-AS1 (I92M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 779851	NM_003380.5(VIM):c.282C>T (p.Thr94=)	VIM-AS1, VIM	Single nucleotide variant (non-coding transcript variant +1 more)	Cataract 30	GBenign
Select item 2322607	NM_003380.5(VIM):c.286T>C (p.Phe96Leu)	VIM, VIM-AS1 (F96L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1630176	NM_003380.5(VIM):c.384T>C (p.Asn128=)	VIM, VIM-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cataract 30	GLikely benign
Select item 1630177	NM_003380.5(VIM):c.423A>G (p.Gln141=)	VIM, VIM-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cataract 30	GLikely benign
Select item 2872983	NM_003380.5(VIM):c.451GAG[2] (p.Glu153del)	VIM, VIM-AS1 (E153del)	Microsatellite (non-coding transcript variant +1 more)	Cataract 30	GUncertain significance
Select item 12199	NM_003380.5(VIM):c.451G>A (p.Glu151Lys)	VIM, VIM-AS1 (E151K)	Single nucleotide variant (non-coding transcript variant +1 more)	Cataract 30	GPathogenic
Select item 949490	NM_003380.5(VIM):c.468G>C (p.Glu156Asp)	VIM, VIM-AS1 (E156D)	Single nucleotide variant (missense variant +1 more)	Cataract 30	GUncertain significance
Select item 2629881	NM_003380.5(VIM):c.518T>C (p.Val173Ala)	VIM, VIM-AS1 (V173A)	Single nucleotide variant (non-coding transcript variant +1 more)	VIM-related disorder	GUncertain significance
Select item 772763	NM_003380.5(VIM):c.542A>C (p.Asp181Ala)	VIM, VIM-AS1 (D181A)	Single nucleotide variant (non-coding transcript variant +1 more)	VIM-related disorder +1 more	GLikely benign
Select item 2893287	NM_003380.5(VIM):c.563+15A>C	LOC130003453, VIM	Single nucleotide variant (intron variant)	Cataract 30	GLikely benign
Select item 1289151	NM_003380.5(VIM):c.563+122C>G	LOC130003453, VIM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262889	NM_003380.5(VIM):c.564-274dup	VIM	Duplication (intron variant)	not provided	GBenign
Select item 1229776	NM_003380.5(VIM):c.564-139C>T	VIM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317705	NM_003380.5(VIM):c.564-27C>A	VIM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1486484	NM_003380.5(VIM):c.598G>C (p.Glu200Gln)	VIM (E200Q)	Single nucleotide variant (missense variant)	Cataract 30	GUncertain significance
Select item 425575	NM_003380.5(VIM):c.623A>G (p.Gln208Arg)	VIM (Q208R)	Single nucleotide variant (missense variant)	Cataract 30	GUncertain significance
Select item 2091183	NM_003380.5(VIM):c.624+7A>G	VIM	Single nucleotide variant (intron variant)	Cataract 30	GLikely benign
Select item 1110631	NM_003380.5(VIM):c.624+7A>C	VIM	Single nucleotide variant (intron variant)	Cataract 30	GLikely benign
Select item 3006287	NM_003380.5(VIM):c.624+17C>G	VIM	Single nucleotide variant (intron variant)	Cataract 30	GLikely benign
Select item 1243925	NM_003380.5(VIM):c.624+210dup	VIM	Duplication (intron variant)	not provided	GBenign
Select item 1239740	NM_003380.5(VIM):c.624+210del	VIM	Deletion (intron variant)	not provided	GBenign
Select item 1318442	NM_003380.5(VIM):c.625-136C>T	VIM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2012232	NM_003380.5(VIM):c.626A>G (p.Asp209Gly)	VIM (D209G)	Single nucleotide variant (missense variant)	Cataract 30	GUncertain significance
Select item 3047409	NM_003380.5(VIM):c.646G>A (p.Ala216Thr)	VIM (A216T)	Single nucleotide variant (missense variant)	VIM-related disorder	GLikely benign
Select item 2399480	NM_003380.5(VIM):c.649C>A (p.Arg217Ser)	VIM (R217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533311	NM_003380.5(VIM):c.664C>T (p.Arg222Cys)	VIM (R222C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1316436	NM_003380.5(VIM):c.720+18C>T	VIM	Single nucleotide variant (intron variant)	Cataract 30 +1 more	GBenign/Likely benign
Select item 772056	NM_003380.5(VIM):c.749A>G (p.Gln250Arg)	VIM (Q250R)	Single nucleotide variant (missense variant)	VIM-related disorder +1 more	GLikely benign
Select item 959458	NM_003380.5(VIM):c.758A>G (p.His253Arg)	VIM (H253R)	Single nucleotide variant (missense variant)	Cataract 30	GUncertain significance
Select item 697839	NM_003380.5(VIM):c.774G>A (p.Val258=)	VIM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1165657	NM_003380.5(VIM):c.807G>T (p.Leu269=)	VIM	Single nucleotide variant (synonymous variant)	Cataract 30	GBenign
Select item 474044	NM_003380.5(VIM):c.813C>T (p.Asp271=)	VIM	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2084511	NM_003380.5(VIM):c.814G>A (p.Val272Ile)	VIM (V272I)	Single nucleotide variant (missense variant)	Cataract 30	GUncertain significance
Select item 2328607	NM_003380.5(VIM):c.860C>T (p.Ala287Val)	VIM (A287V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 702034	NM_003380.5(VIM):c.879C>G (p.Ser293=)	VIM	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 706111	NM_003380.5(VIM):c.882+7A>C	VIM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849423	NM_003380.5(VIM):c.882+20G>A	VIM	Single nucleotide variant (intron variant)	Cataract 30	GLikely benign
Select item 1225435	NM_003380.5(VIM):c.882+136C>T	VIM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277794	NM_003380.5(VIM):c.883-287C>T	VIM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1051392	NM_003380.5(VIM):c.911G>A (p.Arg304Gln)	VIM (R304Q)	Single nucleotide variant (missense variant)	Cataract 30	GUncertain significance
Select item 702631	NM_003380.5(VIM):c.987A>G (p.Glu329=)	VIM	Single nucleotide variant (synonymous variant)	Cataract 30	GLikely benign
Select item 2080210	NM_003380.5(VIM):c.990G>C (p.Val330=)	VIM	Single nucleotide variant (synonymous variant)	Cataract 30	GLikely benign
Select item 1600245	NM_003380.5(VIM):c.1008+18A>G	VIM	Single nucleotide variant (intron variant)	Cataract 30	GBenign
Select item 1225132	NM_003380.5(VIM):c.1008+99G>A	VIM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316918	NM_003380.5(VIM):c.1009-36A>G	VIM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 474043	NM_003380.5(VIM):c.1009-10C>T	VIM	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1127193	NM_003380.5(VIM):c.1009-8C>A	VIM	Single nucleotide variant (intron variant)	Cataract 30	GLikely benign
Select item 2015068	NM_003380.5(VIM):c.1024C>G (p.Arg342Gly)	VIM (R342G)	Single nucleotide variant (missense variant)	Cataract 30	GUncertain significance
Select item 1049635	NM_003380.5(VIM):c.1034G>A (p.Arg345His)	VIM (R345H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3188558	NM_003380.5(VIM):c.1046A>G (p.Glu349Gly)	VIM (E349G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362840	NM_003380.5(VIM):c.1051T>G (p.Phe351Val)	VIM (F351V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306133	NM_003380.5(VIM):c.1057G>A (p.Val353Ile)	VIM (V353I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368041	NM_003380.5(VIM):c.1080C>G (p.Asp360Glu)	VIM (D360E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541892	NM_003380.5(VIM):c.1090C>T (p.Arg364Cys)	VIM (R364C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2028925	NM_003380.5(VIM):c.1122G>A (p.Glu374=)	VIM	Single nucleotide variant (synonymous variant)	Cataract 30	GLikely benign
Select item 930366	NM_003380.5(VIM):c.1141C>T (p.Arg381Cys)	VIM (R381C)	Single nucleotide variant (missense variant)	Cataract 30	GUncertain significance
Select item 752299	NM_003380.5(VIM):c.1155C>T (p.Asp385=)	VIM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 692107	NM_003380.5(VIM):c.1160T>C (p.Leu387Pro)	VIM (L387P)	Single nucleotide variant (missense variant)	syndrome with premature-aging	GLikely pathogenic
Select item 2340119	NM_003380.5(VIM):c.1195A>G (p.Thr399Ala)	VIM (T399A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640332	NM_003380.5(VIM):c.1219G>A (p.Glu407Lys)	VIM (E407K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596277	NM_003380.5(VIM):c.1222G>A (p.Glu408Lys)	VIM (E408K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1296973	NM_003380.5(VIM):c.1229+89C>G	VIM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267573	NM_003380.5(VIM):c.1229+115G>A	VIM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317285	NM_003380.5(VIM):c.1230-208T>C	VIM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2317236	NM_003380.5(VIM):c.1265A>C (p.Asn422Thr)	VIM (N422T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1235195	NM_003380.5(VIM):c.1274-122C>G	VIM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3188559	NM_003380.5(VIM):c.1343A>G (p.Glu448Gly)	VIM (E448G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1259940	NM_003380.5(VIM):c.1360-200G>A	VIM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2092384	NM_003380.5(VIM):c.1360-18G>T	VIM	Single nucleotide variant (intron variant)	Cataract 30	GLikely benign
Select item 1654148	NM_003380.5(VIM):c.1360-7dup	VIM	Duplication (intron variant)	Cataract 30	GBenign
Select item 2897515	NM_003380.5(VIM):c.1360-7del	VIM	Deletion (intron variant)	Cataract 30	GBenign
Select item 1577425	NM_003380.5(VIM):c.1360-17T>G	VIM	Single nucleotide variant (intron variant)	Cataract 30	GLikely benign
Select item 2530389	NM_003380.5(VIM):c.1360G>A (p.Val454Ile)	VIM (V454I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2766744	NM_003380.5(VIM):c.1368C>T (p.Asn456=)	VIM	Single nucleotide variant (synonymous variant)	Cataract 30	GLikely benign
Select item 2345133	NM_003380.5(VIM):c.1372A>G (p.Thr458Ala)	VIM (T458A)	Single nucleotide variant (missense variant)	Cataract 30 +1 more	GUncertain significance

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