ClinVar for MedGen (Select 162897) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024033	NM_003482.4(KMT2D):c.2797+7G>C	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 3023961	NM_003482.4(KMT2D):c.14148G>A (p.Gly4716=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 3023884	NM_003482.4(KMT2D):c.11989C>T (p.Leu3997Phe)	KMT2D (L3997F)	Single nucleotide variant (missense variant)	Kabuki syndrome	GBenign
Select item 3023870	NM_003482.4(KMT2D):c.5064G>A (p.Lys1688=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3023792	NM_003482.4(KMT2D):c.5512G>C (p.Glu1838Gln)	KMT2D (E1838Q)	Single nucleotide variant (missense variant)	Kabuki syndrome	GBenign
Select item 3023385	NM_003482.4(KMT2D):c.13531-12T>C	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 3023132	NM_003482.4(KMT2D):c.15511C>T (p.Arg5171Trp)	KMT2D (R5171W)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 3023052	NM_003482.4(KMT2D):c.13839+7A>G	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 3022998	NM_003482.4(KMT2D):c.14045C>T (p.Thr4682Ile)	KMT2D (T4682I)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 3022945	NM_003482.4(KMT2D):c.3906+7G>A	KMT2D, LOC126861520	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 3022227	NM_003482.4(KMT2D):c.8409C>G (p.Pro2803=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 3022199	NM_003482.4(KMT2D):c.13240A>G (p.Ser4414Gly)	KMT2D (S4414G)	Single nucleotide variant (missense variant)	Kabuki syndrome	GBenign
Select item 3021754	NM_003482.4(KMT2D):c.1795C>T (p.Leu599=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 3021659	NM_003482.4(KMT2D):c.10778C>A (p.Ala3593Glu)	KMT2D (A3593E)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 3021469	NM_003482.4(KMT2D):c.10786C>T (p.Arg3596Trp)	KMT2D (R3596W)	Single nucleotide variant (missense variant)	Kabuki syndrome	GLikely benign
Select item 3021160	NM_003482.4(KMT2D):c.1364_1390del (p.Glu455_Glu463del)	KMT2D	Deletion (inframe_deletion)	Kabuki syndrome	GUncertain significance
Select item 3020827	NM_003482.4(KMT2D):c.2305C>T (p.His769Tyr)	KMT2D (H769Y)	Single nucleotide variant (missense variant)	Kabuki syndrome	GLikely benign
Select item 3020623	NM_003482.4(KMT2D):c.3841G>A (p.Gly1281Arg)	KMT2D, LOC126861520 (G1281R)	Single nucleotide variant (missense variant)	Kabuki syndrome	GBenign
Select item 3019155	NM_003482.4(KMT2D):c.3728G>A (p.Gly1243Glu)	KMT2D, LOC126861520 (G1243E)	Single nucleotide variant (missense variant)	Kabuki syndrome	GBenign
Select item 3018476	NM_003482.4(KMT2D):c.16338+8C>G	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 3018266	NM_003482.4(KMT2D):c.2649C>T (p.Phe883=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GBenign
Select item 3017183	NM_003482.4(KMT2D):c.4584-12T>A	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 3017033	NM_003482.4(KMT2D):c.8105A>G (p.Gln2702Arg)	KMT2D (Q2702R)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 3015921	NM_003482.4(KMT2D):c.15901G>A (p.Val5301Met)	KMT2D (V5301M)	Single nucleotide variant (missense variant)	Kabuki syndrome	GLikely benign
Select item 3015386	NM_003482.4(KMT2D):c.839+8T>C	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 3015289	NM_003482.4(KMT2D):c.11530G>A (p.Gly3844Ser)	KMT2D (G3844S)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 3014809	NM_003482.4(KMT2D):c.6940A>G (p.Thr2314Ala)	KMT2D (T2314A)	Single nucleotide variant (missense variant)	Kabuki syndrome	GBenign
Select item 3013761	NM_003482.4(KMT2D):c.11202GCA[3] (p.Gln3742_Gln3745del)	KMT2D	Microsatellite (inframe_deletion)	Kabuki syndrome	GUncertain significance
Select item 3013758	NM_003482.4(KMT2D):c.9643C>T (p.Leu3215Phe)	KMT2D (L3215F)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 3013201	NM_003482.4(KMT2D):c.4062AGA[1] (p.Glu1355del)	KMT2D (E1355del)	Microsatellite (inframe_deletion)	Kabuki syndrome	GUncertain significance
Select item 3012956	NM_003482.4(KMT2D):c.11981A>G (p.Gln3994Arg)	KMT2D (Q3994R)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 3012910	NM_003482.4(KMT2D):c.4211A>G (p.Tyr1404Cys)	KMT2D (Y1404C)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 3012785	NM_003482.4(KMT2D):c.11738AGC[3] (p.Gln3916_Gln3919del)	KMT2D	Microsatellite (inframe_deletion)	Kabuki syndrome	GUncertain significance
Select item 3012783	NM_003482.4(KMT2D):c.2263C>G (p.Arg755Gly)	KMT2D (R755G)	Single nucleotide variant (missense variant)	Kabuki syndrome	GBenign
Select item 3012601	NM_003482.4(KMT2D):c.6184-13C>G	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 3012524	NM_003482.4(KMT2D):c.6819C>G (p.Leu2273=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 3012519	NM_003482.4(KMT2D):c.6967A>G (p.Thr2323Ala)	KMT2D (T2323A)	Single nucleotide variant (missense variant)	Kabuki syndrome	GBenign
Select item 3012475	NM_003482.4(KMT2D):c.5645-15_5645-13dup	KMT2D	Duplication (intron variant)	Kabuki syndrome	GLikely benign
Select item 3012380	NM_003482.4(KMT2D):c.13531-5C>G	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 3011993	NM_003482.4(KMT2D):c.13074C>G (p.Val4358=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 3009881	NM_003482.4(KMT2D):c.4985G>A (p.Cys1662Tyr)	KMT2D (C1662Y)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 3009880	NM_003482.4(KMT2D):c.10508-3C>T	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 3009774	NM_003482.4(KMT2D):c.6235-10C>T	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 3009550	NM_003482.4(KMT2D):c.6470G>T (p.Gly2157Val)	KMT2D (G2157V)	Single nucleotide variant (missense variant)	Kabuki syndrome	GBenign
Select item 3008460	NM_003482.4(KMT2D):c.16417A>G (p.Ile5473Val)	KMT2D (I5473V)	Single nucleotide variant (missense variant)	Kabuki syndrome	GLikely benign
Select item 3007874	NM_003482.4(KMT2D):c.5188+14G>C	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GUncertain significance
Select item 3007642	NM_003482.4(KMT2D):c.155A>G (p.Gln52Arg)	KMT2D (Q52R)	Single nucleotide variant (missense variant)	Kabuki syndrome	GBenign
Select item 3007323	NM_003482.4(KMT2D):c.5533+6G>T	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GUncertain significance
Select item 3007238	NM_003482.4(KMT2D):c.2341G>A (p.Ala781Thr)	KMT2D (A781T)	Single nucleotide variant (missense variant)	Kabuki syndrome	GBenign
Select item 3006940	NM_003482.4(KMT2D):c.11589G>A (p.Gln3863=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 3006935	NM_003482.4(KMT2D):c.510+8T>C	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 3006335	NM_003482.4(KMT2D):c.13816T>C (p.Tyr4606His)	KMT2D (Y4606H)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 3006148	NM_003482.4(KMT2D):c.1210A>G (p.Met404Val)	KMT2D (M404V)	Single nucleotide variant (missense variant)	Kabuki syndrome	GBenign
Select item 3006012	NM_003482.4(KMT2D):c.1364_1390dup (p.Glu463_Ala464insGluSerProThrSerProProProGlu)	KMT2D	Duplication (inframe_insertion)	Kabuki syndrome	GUncertain significance
Select item 3005689	NM_003482.4(KMT2D):c.8229+4G>A	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GUncertain significance
Select item 3005546	NM_003482.4(KMT2D):c.11091G>A (p.Gly3697=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 3005253	NM_003482.4(KMT2D):c.9391_9393del (p.Pro3131del)	KMT2D (P3131del)	Deletion (inframe_deletion)	Kabuki syndrome	GUncertain significance
Select item 3005113	NM_003482.4(KMT2D):c.15086T>C (p.Met5029Thr)	KMT2D (M5029T)	Single nucleotide variant (missense variant)	Kabuki syndrome	GBenign
Select item 3005011	NM_003482.4(KMT2D):c.10440+13G>A	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 3004964	NM_003482.4(KMT2D):c.14473C>G (p.Arg4825Gly)	KMT2D (R4825G)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 3004641	NM_003482.4(KMT2D):c.4963+1G>T	KMT2D	Single nucleotide variant (splice donor variant)	Kabuki syndrome	GLikely pathogenic
Select item 3004524	NM_003482.4(KMT2D):c.1391_1417del (p.Ala464_Glu472del)	KMT2D	Deletion (inframe_deletion)	Kabuki syndrome	GUncertain significance
Select item 3004062	NM_003482.4(KMT2D):c.5188G>A (p.Val1730Met)	KMT2D (V1730M)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 3003167	NM_003482.4(KMT2D):c.15426T>C (p.Cys5142=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 3003166	NM_003482.4(KMT2D):c.16281T>C (p.Ile5427=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 3003132	NM_003482.4(KMT2D):c.1288T>C (p.Leu430=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GBenign
Select item 3003105	NM_003482.4(KMT2D):c.6306A>G (p.Leu2102=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 3002799	NM_003482.4(KMT2D):c.10095A>G (p.Ala3365=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 3002503	NM_003482.4(KMT2D):c.258G>A (p.Glu86=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GBenign
Select item 3001841	NM_003482.4(KMT2D):c.13530+17G>C	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 3001831	NM_003482.4(KMT2D):c.12744C>G (p.Thr4248=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 3001542	NM_003482.4(KMT2D):c.12129A>G (p.Thr4043=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 3001368	NM_003482.4(KMT2D):c.5135A>G (p.Lys1712Arg)	KMT2D (K1712R)	Single nucleotide variant (missense variant)	Kabuki syndrome	GBenign
Select item 3001163	NM_003482.4(KMT2D):c.12204A>G (p.Ser4068=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 3001054	NM_003482.4(KMT2D):c.6498G>A (p.Gln2166=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 3000813	NM_003482.4(KMT2D):c.5481A>G (p.Pro1827=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GBenign
Select item 3000271	NM_003482.4(KMT2D):c.13352T>A (p.Leu4451Gln)	KMT2D (L4451Q)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 3000262	NM_003482.4(KMT2D):c.13461C>G (p.Ile4487Met)	KMT2D (I4487M)	Single nucleotide variant (missense variant)	Kabuki syndrome	GLikely benign
Select item 3000220	NM_003482.4(KMT2D):c.9795G>A (p.Gln3265=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 3000056	NM_003482.4(KMT2D):c.4623C>T (p.Asp1541=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 2999892	NM_003482.4(KMT2D):c.14517T>C (p.Gly4839=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 2999827	NM_003482.4(KMT2D):c.16002C>T (p.Asn5334=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 2999538	NM_003482.4(KMT2D):c.9807G>A (p.Gln3269=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GBenign
Select item 2999286	NM_003482.4(KMT2D):c.902T>A (p.Phe301Tyr)	KMT2D (F301Y)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 2999282	NM_003482.4(KMT2D):c.10893C>T (p.Leu3631=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 2998989	NM_003482.4(KMT2D):c.4571G>T (p.Arg1524Leu)	KMT2D (R1524L)	Single nucleotide variant (missense variant)	Kabuki syndrome	GLikely benign
Select item 2998910	NM_003482.4(KMT2D):c.5782+14G>A	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GUncertain significance
Select item 2998545	NM_003482.4(KMT2D):c.2152C>T (p.Leu718=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 2998514	NM_003482.4(KMT2D):c.232G>A (p.Gly78Arg)	KMT2D (G78R)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 2998278	NM_003482.4(KMT2D):c.9563C>G (p.Thr3188Arg)	KMT2D (T3188R)	Single nucleotide variant (missense variant)	Kabuki syndrome	GLikely benign
Select item 2998186	NM_003482.4(KMT2D):c.13129T>C (p.Trp4377Arg)	KMT2D (W4377R)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 2997820	NM_003482.4(KMT2D):c.10356-16C>T	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 2997188	NM_003482.4(KMT2D):c.8999A>G (p.His3000Arg)	KMT2D (H3000R)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 2997020	NM_003482.4(KMT2D):c.15796C>T (p.Arg5266Cys)	KMT2D (R5266C)	Single nucleotide variant (missense variant)	Kabuki syndrome	GBenign
Select item 2996841	NM_003482.4(KMT2D):c.6116C>T (p.Ser2039Leu)	KMT2D (S2039L)	Single nucleotide variant (missense variant)	Kabuki syndrome	GBenign
Select item 2996544	NM_003482.4(KMT2D):c.6702C>T (p.Pro2234=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GBenign
Select item 2996017	NM_003482.4(KMT2D):c.5000A>T (p.Glu1667Val)	KMT2D (E1667V)	Single nucleotide variant (missense variant)	Kabuki syndrome	GLikely benign
Select item 2995727	NM_003482.4(KMT2D):c.14643+6T>C	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GUncertain significance
Select item 2995646	NM_003482.4(KMT2D):c.8977C>G (p.Leu2993Val)	KMT2D (L2993V)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 2995598	NM_003482.4(KMT2D):c.11922G>A (p.Gln3974=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign

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