ClinVar for MedGen (Select 96590) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062083	NM_152424.4(AMER1):c.877del (p.Lys292_Val293insTer)	AMER1	Deletion (nonsense)	Osteopathia striata with cranial sclerosis	GPathogenic
Select item 2671923	NM_152424.4(AMER1):c.1575_1590del (p.Tyr526fs)	AMER1 (Y526fs)	Deletion (frameshift variant)	Osteopathia striata with cranial sclerosis	GLikely pathogenic
Select item 2572435	NM_152424.4(AMER1):c.1104_1105dup (p.Gly369fs)	AMER1 (G369fs)	Duplication (frameshift variant)	Osteopathia striata with cranial sclerosis	GLikely pathogenic
Select item 2439016	NM_152424.4(AMER1):c.3266G>C (p.Arg1089Thr)	AMER1 (R1089T)	Single nucleotide variant (missense variant)	Osteopathia striata with cranial sclerosis	GUncertain significance
Select item 2439015	NM_152424.4(AMER1):c.1073G>A (p.Arg358Gln)	AMER1 (R358Q)	Single nucleotide variant (missense variant)	Osteopathia striata with cranial sclerosis	GUncertain significance
Select item 2439014	NM_152424.4(AMER1):c.50C>G (p.Ser17Cys)	AMER1 (S17C)	Single nucleotide variant (missense variant)	Osteopathia striata with cranial sclerosis	GUncertain significance
Select item 2439013	NM_152424.4(AMER1):c.3286C>T (p.Gln1096Ter)	AMER1 (Q1096*)	Single nucleotide variant (nonsense)	Osteopathia striata with cranial sclerosis	GUncertain significance
Select item 2439012	NM_152424.4(AMER1):c.1076G>C (p.Ser359Thr)	AMER1 (S359T)	Single nucleotide variant (missense variant)	Osteopathia striata with cranial sclerosis	GUncertain significance
Select item 2439011	NM_152424.4(AMER1):c.3010T>C (p.Ser1004Pro)	AMER1 (S1004P)	Single nucleotide variant (missense variant)	Osteopathia striata with cranial sclerosis	GUncertain significance
Select item 2439010	NM_152424.4(AMER1):c.1460T>A (p.Leu487Gln)	AMER1 (L487Q)	Single nucleotide variant (missense variant)	Osteopathia striata with cranial sclerosis	GUncertain significance
Select item 2431812	NM_152424.4(AMER1):c.3369C>G (p.Ser1123Arg)	AMER1 (S1123R)	Single nucleotide variant (missense variant)	Osteopathia striata with cranial sclerosis	GUncertain significance
Select item 1710953	NM_152424.4(AMER1):c.2875C>A (p.Pro959Thr)	AMER1 (P959T)	Single nucleotide variant (missense variant)	Osteopathia striata with cranial sclerosis	GUncertain significance
Select item 1691269	NM_152424.4(AMER1):c.3130A>G (p.Met1044Val)	AMER1 (M1044V)	Single nucleotide variant (missense variant)	Osteopathia striata with cranial sclerosis +1 more	GUncertain significance
Select item 1664793	NM_152424.4(AMER1):c.918G>A (p.Gly306=)	AMER1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1476163	NM_152424.4(AMER1):c.2884G>A (p.Ala962Thr)	AMER1 (A962T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1323114	NM_152424.4(AMER1):c.1000G>T (p.Glu334Ter)	AMER1 (E334*)	Single nucleotide variant (nonsense)	Osteopathia striata with cranial sclerosis	GPathogenic
Select item 1323110	NM_152424.4(AMER1):c.179_180del (p.Phe60fs)	AMER1 (F60fs)	Deletion (frameshift variant)	Osteopathia striata with cranial sclerosis	GPathogenic
Select item 1184713	NM_152424.4(AMER1):c.171G>T (p.Met57Ile)	AMER1 (M57I)	Single nucleotide variant (missense variant)	Osteopathia striata with cranial sclerosis	GUncertain significance
Select item 1030261	NM_152424.4(AMER1):c.71C>T (p.Thr24Ile)	AMER1 (T24I)	Single nucleotide variant (missense variant)	Osteopathia striata with cranial sclerosis	GUncertain significance
Select item 1030260	NM_152424.4(AMER1):c.3328T>A (p.Ser1110Thr)	AMER1 (S1110T)	Single nucleotide variant (missense variant)	Osteopathia striata with cranial sclerosis	GUncertain significance
Select item 1030259	NM_152424.4(AMER1):c.2363G>A (p.Cys788Tyr)	AMER1 (C788Y)	Single nucleotide variant (missense variant)	Osteopathia striata with cranial sclerosis	GUncertain significance
Select item 1030258	NM_152424.4(AMER1):c.1305C>G (p.Gly435=)	AMER1	Single nucleotide variant (synonymous variant)	Osteopathia striata with cranial sclerosis	GUncertain significance
Select item 975791	NC_000023.11:g.64205190_64206761del	AMER1, LOC130068367 +1 more	Deletion	Osteopathia striata with cranial sclerosis	GPathogenic
Select item 975790	NC_000023.11:g.64203965_64205889del	AMER1, LOC130068366 +1 more	Deletion	Osteopathia striata with cranial sclerosis	GPathogenic
Select item 974944	NM_152424.4(AMER1):c.555_556del (p.Gly186_Ala187insTer)	AMER1	Deletion (frameshift variant)	Osteopathia striata with cranial sclerosis	GPathogenic
Select item 974943	NC_000023.11:g.63635938_64279758del	MTMR8, ARHGEF9 +2 more	Deletion	Osteopathia striata with cranial sclerosis	GPathogenic
Select item 974942	NC_000023.11:g.(64175170_64275169)del	AMER1	Deletion	Osteopathia striata with cranial sclerosis	GPathogenic
Select item 931036	NM_152424.4(AMER1):c.2048C>G (p.Ser683Ter)	AMER1 (S683*)	Single nucleotide variant (nonsense)	Osteopathia striata with cranial sclerosis	GUncertain significance
Select item 862773	NM_152424.4(AMER1):c.1489C>T (p.Arg497Ter)	AMER1 (R497*)	Single nucleotide variant (nonsense)	Osteopathia striata with cranial sclerosis +1 more	GPathogenic/Likely pathogenic
Select item 804016	NM_152424.4(AMER1):c.1384del (p.Glu462fs)	AMER1 (E462fs)	Deletion (frameshift variant)	Osteopathia striata with cranial sclerosis	GLikely pathogenic
Select item 792933	NM_152424.4(AMER1):c.742C>A (p.Pro248Thr)	AMER1 (P248T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 784730	NM_152424.4(AMER1):c.401A>C (p.His134Pro)	AMER1 (H134P)	Single nucleotide variant (missense variant)	AMER1-related condition +2 more	GBenign/Likely benign
Select item 759265	NM_152424.4(AMER1):c.2029T>C (p.Ser677Pro)	AMER1 (S677P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 720216	NM_152424.4(AMER1):c.3408G>A (p.Ter1136=)	AMER1	Single nucleotide variant (synonymous variant)	AMER1-related condition +2 more	GBenign/Likely benign
Select item 636242	NM_152424.4(AMER1):c.565C>T (p.Gln189Ter)	AMER1 (Q189*)	Single nucleotide variant (nonsense)	Osteopathia striata with cranial sclerosis	GPathogenic
Select item 438746	NM_152424.4(AMER1):c.655del (p.Glu219fs)	AMER1 (E219fs)	Deletion (frameshift variant)	Osteopathia striata with cranial sclerosis	GLikely pathogenic
Select item 133501	NM_152424.4(AMER1):c.85G>A (p.Ala29Thr)	AMER1 (A29T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 133487	NM_152424.4(AMER1):c.1796A>G (p.Tyr599Cys)	AMER1 (Y599C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 37046	NM_152424.4(AMER1):c.811C>T (p.Gln271Ter)	AMER1 (Q271*)	Single nucleotide variant (nonsense)	Osteopathia striata with cranial sclerosis	GPathogenic
Select item 37045	NM_152424.4(AMER1):c.1267del (p.Leu423fs)	AMER1 (L423fs)	Deletion (frameshift variant)	Osteopathia striata with cranial sclerosis	GPathogenic
Select item 29979	NM_152424.4(AMER1):c.429T>A (p.Cys143Ter)	AMER1 (C143*)	Single nucleotide variant (nonsense)	Osteopathia striata with cranial sclerosis	GPathogenic
Select item 10708	NM_152424.4(AMER1):c.1072C>T (p.Arg358Ter)	AMER1 (R358*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 10707	NM_152424.4(AMER1):c.1057C>T (p.Arg353Ter)	AMER1 (R353*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 10706	NC_000023.11:g.(57537466_63428182)_(65235775_65512709)del	AMER1, ARHGEF9 +36 more	Deletion	Osteopathia striata with cranial sclerosis	GPathogenic
Select item 10705	NM_152424.4(AMER1):c.780dup (p.Pro261fs)	AMER1 (P261fs)	Duplication (frameshift variant)	Osteopathia striata with cranial sclerosis	GPathogenic
Select item 10704	NM_152424.4(AMER1):c.671del (p.Pro224fs)	AMER1 (P224fs)	Deletion (frameshift variant)	Osteopathia striata with cranial sclerosis	GPathogenic

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Items: 46