ClinVar for MedGen (Select 75567) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3765633	NM_017780.4(CHD7):c.8896G>T (p.Ala2966Ser)	CHD7 (A2966S +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GLikely pathogenic
Select item 3731490	NM_017780.4(CHD7):c.2547T>A (p.Asp849Glu)	CHD7 (D849E)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3730794	NM_017780.4(CHD7):c.2619G>A (p.Glu873=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 3730441	NM_012431.3(SEMA3E):c.1040C>T (p.Ser347Phe)	SEMA3E (S347F +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3729525	NM_017780.4(CHD7):c.8076+10A>G	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3728954	NM_017780.4(CHD7):c.4767A>G (p.Ala1589=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 3728326	NM_012431.3(SEMA3E):c.551-10T>C	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3727017	NM_017780.4(CHD7):c.5301-7C>T	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3726716	NM_017780.4(CHD7):c.5115G>T (p.Pro1705=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 3726223	NM_012431.3(SEMA3E):c.2090C>A (p.Pro697His)	SEMA3E (P637H +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3726012	NM_017780.4(CHD7):c.1705del (p.Asp569fs)	CHD7, LOC126860403 (D569fs)	Deletion (frameshift variant)	CHARGE syndrome	GPathogenic
Select item 3724970	NM_017780.4(CHD7):c.1862dup (p.Gly622fs)	CHD7, LOC126860403 (G622fs)	Duplication (frameshift variant +1 more)	CHARGE syndrome	GPathogenic
Select item 3724111	NM_017780.4(CHD7):c.3378+8A>G	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3722529	NM_017780.4(CHD7):c.2698-1G>T	CHD7	Single nucleotide variant (splice acceptor variant +1 more)	CHARGE syndrome	GLikely pathogenic
Select item 3722528	NM_017780.4(CHD7):c.2698-9C>G	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3720828	NM_017780.4(CHD7):c.4157C>G (p.Ser1386Ter)	CHD7 (S1386*)	Single nucleotide variant (nonsense +1 more)	CHARGE syndrome	GPathogenic
Select item 3720827	NM_017780.4(CHD7):c.1925dup (p.Lys643fs)	CHD7, LOC126860403 (K643fs)	Duplication (frameshift variant +1 more)	CHARGE syndrome	GPathogenic
Select item 3720724	NM_017780.4(CHD7):c.181C>G (p.Gln61Glu)	CHD7 (Q61E)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3720128	NM_017780.4(CHD7):c.2298G>T (p.Lys766Asn)	CHD7 (K766N)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GBenign
Select item 3719737	NM_017780.4(CHD7):c.7960A>C (p.Asn2654His)	CHD7 (N605H +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3719734	NM_017780.4(CHD7):c.7214G>A (p.Arg2405Lys)	CHD7 (R2405K)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3719733	NM_017780.4(CHD7):c.6384T>G (p.His2128Gln)	CHD7 (H2128Q)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GBenign
Select item 3719731	NM_017780.4(CHD7):c.5437C>T (p.Pro1813Ser)	CHD7 (P1813S)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3719730	NM_017780.4(CHD7):c.5111A>T (p.Gln1704Leu)	CHD7 (Q1704L)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3719729	NM_017780.4(CHD7):c.3844C>G (p.Leu1282Val)	CHD7 (L1282V)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3719728	NM_017780.4(CHD7):c.3667G>A (p.Glu1223Lys)	CHD7 (E1223K)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3719727	NM_017780.4(CHD7):c.3443T>C (p.Leu1148Pro)	CHD7 (L1148P)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3719725	NM_017780.4(CHD7):c.2654A>G (p.Asp885Gly)	CHD7 (D885G)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3719710	NM_017780.4(CHD7):c.8796C>G (p.Gly2932=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GBenign
Select item 3719636	NM_017780.4(CHD7):c.6158G>A (p.Arg2053Gln)	CHD7 (R2053Q)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3719581	NM_017780.4(CHD7):c.2835+13T>C	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3719393	NM_017780.4(CHD7):c.2848G>A (p.Ala950Thr)	CHD7 (A950T)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GBenign
Select item 3719356	NM_017780.4(CHD7):c.2376+17T>C	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3719058	NM_017780.4(CHD7):c.2747G>T (p.Ser916Ile)	CHD7 (S916I)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3718906	NM_012431.3(SEMA3E):c.551-7C>T	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3718372	NM_017780.4(CHD7):c.587G>A (p.Gly196Glu)	CHD7 (G196E)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3718337	NM_017780.4(CHD7):c.8847T>C (p.Asp2949=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 3718287	NM_017780.4(CHD7):c.7429G>T (p.Ala2477Ser)	CHD7 (A2477S)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GBenign
Select item 3718215	NM_012431.3(SEMA3E):c.1667+19T>A	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3717937	NM_017780.4(CHD7):c.6485T>C (p.Ile2162Thr)	CHD7 (I2162T)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GBenign
Select item 3717928	NM_017780.4(CHD7):c.2569A>T (p.Lys857Ter)	CHD7 (K857*)	Single nucleotide variant (nonsense +1 more)	CHARGE syndrome	GPathogenic
Select item 3717636	NM_012431.3(SEMA3E):c.2124A>G (p.Pro708=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 3717622	NM_017780.4(CHD7):c.6014A>G (p.Lys2005Arg)	CHD7 (K2005R)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3717579	NM_017780.4(CHD7):c.5537G>T (p.Gly1846Val)	CHD7 (G1846V)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3717545	NM_017780.4(CHD7):c.6343C>T (p.His2115Tyr)	CHD7 (H2115Y)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3717389	NM_012431.3(SEMA3E):c.116-19G>A	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3717140	NM_017780.4(CHD7):c.2614-6G>A	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3716923	NM_017780.4(CHD7):c.2639A>T (p.Asp880Val)	CHD7 (D880V)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GLikely benign
Select item 3716736	NM_017780.4(CHD7):c.1665+8G>T	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3716493	NM_017780.4(CHD7):c.5725C>T (p.Leu1909=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 3716094	NM_017780.4(CHD7):c.4616A>C (p.Glu1539Ala)	CHD7 (E1539A)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3715592	NM_017780.4(CHD7):c.5210+13A>G	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3715555	NM_017780.4(CHD7):c.4829A>G (p.Glu1610Gly)	CHD7 (E1610G)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3714577	NM_017780.4(CHD7):c.1064C>T (p.Ser355Leu)	CHD7 (S355L)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3714057	NM_012431.3(SEMA3E):c.561G>T (p.Leu187Phe)	SEMA3E (L187F +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3713752	NM_017780.4(CHD7):c.8864G>A (p.Gly2955Asp)	CHD7 (G906D +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3713636	NM_017780.4(CHD7):c.8699C>T (p.Pro2900Leu)	CHD7 (P851L +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3713213	NM_017780.4(CHD7):c.7128G>A (p.Gly2376=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GBenign
Select item 3712780	NM_012431.3(SEMA3E):c.928+5A>C	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome	GUncertain significance
Select item 3712636	NM_017780.4(CHD7):c.6419C>T (p.Thr2140Ile)	CHD7 (T2140I)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GBenign
Select item 3712513	NM_017780.4(CHD7):c.2442+18C>T	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3712494	NM_017780.4(CHD7):c.2186A>G (p.Lys729Arg)	CHD7 (K729R)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3711804	NM_017780.4(CHD7):c.5301-17T>A	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3711761	NM_017780.4(CHD7):c.5666-4C>T	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3711727	NM_012431.3(SEMA3E):c.93C>T (p.Pro31=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 3711395	NM_017780.4(CHD7):c.5365G>A (p.Glu1789Lys)	CHD7 (E1789K)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3711350	NM_017780.4(CHD7):c.772C>G (p.His258Asp)	CHD7 (H258D)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3711208	NM_017780.4(CHD7):c.870T>G (p.Leu290=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 3710677	NM_017780.4(CHD7):c.2097-18A>G	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3709918	NM_017780.4(CHD7):c.447T>C (p.Ala149=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GBenign
Select item 3709858	NM_017780.4(CHD7):c.1563G>C (p.Pro521=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 3709654	NM_017780.4(CHD7):c.280C>T (p.Pro94Ser)	CHD7 (P94S)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3709544	NM_012431.3(SEMA3E):c.1154A>T (p.Lys385Ile)	SEMA3E (K325I +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3709516	NM_017780.4(CHD7):c.3284G>A (p.Arg1095Gln)	CHD7 (R1095Q)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3708530	NM_017780.4(CHD7):c.1780C>T (p.Pro594Ser)	CHD7, LOC126860403 (P594S)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GBenign
Select item 3708414	NM_017780.4(CHD7):c.6732G>A (p.Lys2244=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GBenign
Select item 3708376	NM_017780.4(CHD7):c.3006G>A (p.Gln1002=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 3708219	NM_017780.4(CHD7):c.2592C>T (p.Gly864=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 3708203	NM_012431.3(SEMA3E):c.1695T>C (p.His565=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 3708118	NM_017780.4(CHD7):c.4059C>A (p.Ser1353=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 3708117	NM_017780.4(CHD7):c.4053A>G (p.Arg1351=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 3707923	NM_017780.4(CHD7):c.1011T>G (p.Asn337Lys)	CHD7 (N337K)	Single nucleotide variant (missense variant)	CHARGE syndrome	GBenign
Select item 3707738	NM_017780.4(CHD7):c.2835+16T>C	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3707694	NM_012431.3(SEMA3E):c.1362G>C (p.Gly454=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 3707585	NM_017780.4(CHD7):c.4656T>C (p.Val1552=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GBenign
Select item 3707447	NM_017780.4(CHD7):c.6170G>A (p.Arg2057His)	CHD7 (R2057H)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GLikely benign
Select item 3706965	NM_017780.4(CHD7):c.5211-19C>T	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3706852	NM_017780.4(CHD7):c.686C>T (p.Thr229Ile)	CHD7 (T229I)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3706640	NM_017780.4(CHD7):c.2209C>T (p.Pro737Ser)	CHD7 (P737S)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3706604	NM_012431.3(SEMA3E):c.551-3T>C	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome	GUncertain significance
Select item 3706485	NM_017780.4(CHD7):c.8836C>T (p.Pro2946Ser)	CHD7 (P897S +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GBenign
Select item 3705604	NM_017780.4(CHD7):c.8267C>T (p.Thr2756Met)	CHD7 (T2756M +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GLikely benign
Select item 3705506	NM_017780.4(CHD7):c.7831-18A>G	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3705005	NM_017780.4(CHD7):c.7150C>T (p.Pro2384Ser)	CHD7 (P2384S)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3704895	NM_017780.4(CHD7):c.2349C>T (p.Pro783=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 3704823	NM_012431.3(SEMA3E):c.1933C>T (p.His645Tyr)	SEMA3E (H645Y +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3704205	NM_017780.4(CHD7):c.2613+14G>C	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3704115	NM_017780.4(CHD7):c.2540A>G (p.Glu847Gly)	CHD7 (E847G)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3703929	NM_017780.4(CHD7):c.2897A>G (p.Asn966Ser)	CHD7 (N966S)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GLikely benign
Select item 3703827	NM_012431.3(SEMA3E):c.886G>T (p.Val296Leu)	SEMA3E (V296L +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance

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