ClinVar for MedGen (Select 82790) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076050	NM_000090.4(COL3A1):c.570del (p.Pro191fs)	COL3A1 (P191fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 3075383	NM_000090.4(COL3A1):c.3818A>T (p.Lys1273Met)	COL3A1 (K1273M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3075297	NM_000090.4(COL3A1):c.3077G>C (p.Gly1026Ala)	COL3A1 (G1026A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 3075289	NM_000090.4(COL3A1):c.2824-3T>C	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 3075179	NM_000090.4(COL3A1):c.1794C>T (p.Gly598=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 3075157	NM_000090.4(COL3A1):c.583-4C>T	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 3075139	NM_000090.4(COL3A1):c.910G>C (p.Ala304Pro)	COL3A1 (A304P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3075109	NM_000090.4(COL3A1):c.1697C>G (p.Pro566Arg)	COL3A1 (P566R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3075021	NM_000090.4(COL3A1):c.508G>T (p.Ala170Ser)	COL3A1 (A170S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074910	NM_000090.4(COL3A1):c.2982C>A (p.Pro994=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 3074907	NM_000090.4(COL3A1):c.2511C>T (p.Gly837=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 3074894	NM_000090.4(COL3A1):c.366C>A (p.Asp122Glu)	COL3A1 (D122E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074890	NM_000090.4(COL3A1):c.1712C>T (p.Pro571Leu)	COL3A1 (P571L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074888	NM_000090.4(COL3A1):c.2075C>T (p.Pro692Leu)	COL3A1 (P692L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074877	NM_000090.4(COL3A1):c.3451G>T (p.Asp1151Tyr)	COL3A1 (D1151Y)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074867	NM_000090.4(COL3A1):c.3421C>T (p.Pro1141Ser)	COL3A1 (P1141S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074830	NM_000090.4(COL3A1):c.1150-5C>T	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 3074802	NM_000090.4(COL3A1):c.3697G>C (p.Glu1233Gln)	COL3A1 (E1233Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074788	NM_000090.4(COL3A1):c.2282G>A (p.Arg761Lys)	COL3A1 (R761K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074701	NM_000090.4(COL3A1):c.2769A>G (p.Lys923=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 3074691	NM_000090.4(COL3A1):c.1491T>C (p.Asn497=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 3074675	NM_000090.4(COL3A1):c.2507G>A (p.Gly836Glu)	COL3A1 (G836E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074671	NM_000090.4(COL3A1):c.1976C>A (p.Pro659Gln)	COL3A1 (P659Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074621	NM_000090.4(COL3A1):c.3349G>T (p.Ala1117Ser)	COL3A1 (A1117S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074598	NM_000090.4(COL3A1):c.3313A>G (p.Ile1105Val)	COL3A1 (I1105V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074544	NM_000090.4(COL3A1):c.3403C>A (p.Pro1135Thr)	COL3A1 (P1135T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074518	NM_000090.4(COL3A1):c.2392-5T>A	COL3A1, LOC126806446	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074478	NM_000090.4(COL3A1):c.2823+4A>G	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074466	NM_000090.4(COL3A1):c.2639T>C (p.Leu880Pro)	COL3A1 (L880P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074450	NM_000090.4(COL3A1):c.637-12C>T	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 3074417	NM_000090.4(COL3A1):c.2703G>C (p.Lys901Asn)	COL3A1 (K901N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074389	NM_000090.4(COL3A1):c.1435C>G (p.Pro479Ala)	COL3A1 (P479A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074382	NM_000090.4(COL3A1):c.1505A>G (p.Glu502Gly)	COL3A1 (E502G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074358	NM_000090.4(COL3A1):c.3094-8G>T	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074299	NM_000090.4(COL3A1):c.3200G>T (p.Ser1067Ile)	COL3A1 (S1067I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074285	NM_000090.4(COL3A1):c.2998C>T (p.Leu1000Phe)	COL3A1 (L1000F)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074253	NM_000090.4(COL3A1):c.1663-4T>C	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 3074220	NM_000090.4(COL3A1):c.758C>G (p.Pro253Arg)	COL3A1 (P253R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074190	NM_000090.4(COL3A1):c.1108G>C (p.Glu370Gln)	COL3A1 (E370Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074177	NM_000090.4(COL3A1):c.2804C>G (p.Pro935Arg)	COL3A1 (P935R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074171	NM_000090.4(COL3A1):c.963T>G (p.Gly321=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 3074153	NM_000090.4(COL3A1):c.3922T>C (p.Leu1308=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 3074136	NM_000090.4(COL3A1):c.40G>C (p.Ala14Pro)	COL3A1 (A14P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074116	NM_000090.4(COL3A1):c.310C>G (p.Pro104Ala)	COL3A1 (P104A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074100	NM_000090.4(COL3A1):c.2462C>T (p.Pro821Leu)	COL3A1 (P821L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074085	NM_000090.4(COL3A1):c.723G>T (p.Glu241Asp)	COL3A1 (E241D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074076	NM_000090.4(COL3A1):c.2669C>T (p.Pro890Leu)	COL3A1 (P890L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074075	NM_000090.4(COL3A1):c.2062T>A (p.Leu688Met)	COL3A1 (L688M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074054	NM_000090.4(COL3A1):c.3823+3A>G	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074037	NM_000090.4(COL3A1):c.997-4T>A	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074022	NM_000090.4(COL3A1):c.2296C>G (p.Pro766Ala)	COL3A1 (P766A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3073968	NM_000090.4(COL3A1):c.4076T>A (p.Leu1359His)	COL3A1 (L1359H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3073950	NM_000090.4(COL3A1):c.3542C>G (p.Pro1181Arg)	COL3A1 (P1181R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3073803	NM_000090.4(COL3A1):c.1910C>T (p.Pro637Leu)	COL3A1 (P637L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3073802	NM_000090.4(COL3A1):c.307G>A (p.Gly103Arg)	COL3A1 (G103R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3073794	NM_000090.4(COL3A1):c.3638C>T (p.Ala1213Val)	COL3A1 (A1213V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3073761	NM_000090.4(COL3A1):c.1324G>C (p.Glu442Gln)	COL3A1 (E442Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3073756	NM_000090.4(COL3A1):c.526G>T (p.Ala176Ser)	COL3A1 (A176S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3073734	NM_000090.4(COL3A1):c.2588G>T (p.Arg863Leu)	COL3A1 (R863L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3073694	NM_000090.4(COL3A1):c.687A>T (p.Lys229Asn)	COL3A1 (K229N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3073691	NM_000090.4(COL3A1):c.940C>G (p.Pro314Ala)	COL3A1 (P314A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3073666	NM_000090.4(COL3A1):c.80-3C>T	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 3073612	NM_000090.4(COL3A1):c.485C>G (p.Ser162Cys)	COL3A1 (S162C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3073557	NM_000090.4(COL3A1):c.636A>G (p.Ser212=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 3073546	NM_000090.4(COL3A1):c.197T>G (p.Ile66Arg)	COL3A1 (I66R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3073502	NM_000090.4(COL3A1):c.1577G>A (p.Arg526Lys)	COL3A1 (R526K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3073490	NM_000090.4(COL3A1):c.2122-3C>T	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 3073448	NM_000090.4(COL3A1):c.412C>T (p.Pro138Ser)	COL3A1 (P138S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3073438	NM_000090.4(COL3A1):c.2533C>A (p.Pro845Thr)	COL3A1 (P845T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3073432	NM_000090.4(COL3A1):c.3079T>G (p.Ser1027Ala)	COL3A1 (S1027A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3073397	NM_000090.4(COL3A1):c.888T>G (p.Pro296=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 3073386	NM_000090.4(COL3A1):c.1017A>T (p.Gly339=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 3073295	NM_000090.4(COL3A1):c.387A>T (p.Pro129=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 3073256	NM_000090.4(COL3A1):c.3469C>A (p.Pro1157Thr)	COL3A1 (P1157T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3073144	NM_000090.4(COL3A1):c.2152G>T (p.Ala718Ser)	COL3A1 (A718S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3073047	NM_000090.4(COL3A1):c.4247G>T (p.Gly1416Val)	COL3A1 (G1416V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3073019	NM_000090.4(COL3A1):c.2446-5T>C	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3072981	NM_000090.4(COL3A1):c.4374G>A (p.Val1458=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 3072898	NM_000090.4(COL3A1):c.3089G>T (p.Gly1030Val)	COL3A1 (G1030V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3072895	NM_000090.4(COL3A1):c.3093+4T>C	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3072886	NM_000090.4(COL3A1):c.24G>C (p.Gly8=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3072869	NM_000090.4(COL3A1):c.80C>G (p.Ala27Gly)	COL3A1 (A27G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3072865	NM_000090.4(COL3A1):c.2392-4T>A	COL3A1, LOC126806446	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3072824	NM_000090.4(COL3A1):c.2530C>A (p.Pro844Thr)	COL3A1 (P844T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3072812	NM_000090.4(COL3A1):c.356G>A (p.Arg119Lys)	COL3A1 (R119K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3072751	NM_000090.4(COL3A1):c.1957A>C (p.Asn653His)	COL3A1 (N653H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3072583	NM_000090.4(COL3A1):c.1234G>A (p.Ala412Thr)	COL3A1 (A412T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3072582	NM_000090.4(COL3A1):c.2434C>T (p.Pro812Ser)	COL3A1, LOC126806446 (P812S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3072533	NM_000090.4(COL3A1):c.4280C>T (p.Thr1427Ile)	COL3A1 (T1427I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3072520	NM_000090.4(COL3A1):c.2142G>A (p.Gly714=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 3072512	NM_000090.4(COL3A1):c.322A>G (p.Lys108Glu)	COL3A1 (K108E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3072491	NM_000090.4(COL3A1):c.3796A>G (p.Lys1266Glu)	COL3A1 (K1266E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3072488	NM_000090.4(COL3A1):c.1869+4A>G	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3072467	NM_000090.4(COL3A1):c.55A>C (p.Thr19Pro)	COL3A1 (T19P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3072462	NM_000090.4(COL3A1):c.2146C>T (p.Pro716Ser)	COL3A1 (P716S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3072444	NM_000090.4(COL3A1):c.4012-10C>G	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3072426	NM_000090.4(COL3A1):c.3364-4C>G	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3072419	NM_000090.4(COL3A1):c.2415T>G (p.Pro805=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 3072385	NM_000090.4(COL3A1):c.2381G>T (p.Arg794Leu)	COL3A1, LOC126806446 (R794L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3072372	NM_000090.4(COL3A1):c.3361C>G (p.Pro1121Ala)	COL3A1 (P1121A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance

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