ClinVar for MedGen (Select 400598) - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1387606	NM_182894.3(VSX2):c.371-1G>A	VSX2	Single nucleotide variant (splice acceptor variant)	Isolated microphthalmia 2	GPathogenic
Select item 989732	NM_182894.3(VSX2):c.862C>T (p.Arg288Trp)	VSX2 (R288W)	Single nucleotide variant (missense variant)	Isolated microphthalmia 2 +1 more	GUncertain significance
Select item 888446	NM_182894.3(VSX2):c.*1396C>T	VSX2	Single nucleotide variant (3 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 888389	NM_182894.3(VSX2):c.*602T>G	VSX2	Single nucleotide variant (3 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 888388	NM_182894.3(VSX2):c.*590C>T	VSX2	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 2 +1 more	GUncertain significance
Select item 888331	NM_182894.3(VSX2):c.*10C>T	VSX2	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 2 +2 more	GConflicting classifications of pathogenicity
Select item 888257	NM_182894.3(VSX2):c.505G>A (p.Glu169Lys)	VSX2 (E169K)	Single nucleotide variant (missense variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 887196	NM_182894.3(VSX2):c.*1252C>T	VSX2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 887124	NM_182894.3(VSX2):c.*430C>T	VSX2	Single nucleotide variant (3 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 887123	NM_182894.3(VSX2):c.*291A>T	VSX2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 886993	NM_182894.3(VSX2):c.455+3G>T	VSX2	Single nucleotide variant (intron variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 886992	NM_182894.3(VSX2):c.371-14C>T	VSX2	Single nucleotide variant (intron variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GConflicting classifications of pathogenicity
Select item 886991	NM_182894.3(VSX2):c.370+3A>G	VSX2	Single nucleotide variant (intron variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 886253	NM_182894.3(VSX2):c.*1718T>C	VSX2	Single nucleotide variant (3 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 886252	NM_182894.3(VSX2):c.*1640T>C	VSX2	Single nucleotide variant (3 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 886184	NM_182894.3(VSX2):c.*1073G>A	VSX2	Single nucleotide variant (3 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 886183	NM_182894.3(VSX2):c.*962G>T	VSX2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 886121	NM_182894.3(VSX2):c.*250C>G	VSX2	Single nucleotide variant (3 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 886120	NM_182894.3(VSX2):c.*150G>C	VSX2	Single nucleotide variant (3 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 886119	NM_182894.3(VSX2):c.*70C>T	VSX2	Single nucleotide variant (3 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 886059	NM_182894.3(VSX2):c.760+11G>A	VSX2	Single nucleotide variant (intron variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GConflicting classifications of pathogenicity
Select item 885282	NM_182894.3(VSX2):c.*782C>A	VSX2	Single nucleotide variant (3 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 885281	NM_182894.3(VSX2):c.*641C>T	VSX2	Single nucleotide variant (3 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 885150	NM_182894.3(VSX2):c.649G>C (p.Ala217Pro)	VSX2 (A217P)	Single nucleotide variant (missense variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 885073	NM_182894.3(VSX2):c.-46G>C	VSX2	Single nucleotide variant (5 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GLikely benign
Select item 884221	NM_182894.3(VSX2):c.*1537G>A	VSX2	Single nucleotide variant (3 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 738345	NM_182894.3(VSX2):c.564G>A (p.Pro188=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2 +2 more	GConflicting classifications of pathogenicity
Select item 706589	NM_182894.3(VSX2):c.171C>G (p.Ala57=)	VSX2	Single nucleotide variant (synonymous variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GConflicting classifications of pathogenicity
Select item 706510	NM_182894.3(VSX2):c.249G>A (p.Gly83=)	VSX2	Single nucleotide variant (synonymous variant)	VSX2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 705711	NM_182894.3(VSX2):c.699C>T (p.Pro233=)	VSX2	Single nucleotide variant (synonymous variant)	VSX2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 468359	NM_182894.3(VSX2):c.504C>T (p.Asn168=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2 +1 more	GConflicting classifications of pathogenicity
Select item 468358	NM_182894.3(VSX2):c.162C>A (p.Asp54Glu)	VSX2 (D54E)	Single nucleotide variant (missense variant)	Isolated microphthalmia 2 +2 more	GConflicting classifications of pathogenicity
Select item 314234	NM_182894.3(VSX2):c.*1803A>C	VSX2	Single nucleotide variant (3 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GLikely benign
Select item 314233	NM_182894.3(VSX2):c.*1764A>G	VSX2	Single nucleotide variant (3 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 314232	NM_182894.3(VSX2):c.*1757A>T	VSX2	Single nucleotide variant (3 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 314231	NM_182894.3(VSX2):c.*1753C>T	VSX2	Single nucleotide variant (3 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 314230	NM_182894.3(VSX2):c.*1585A>C	VSX2	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 2 +1 more	GLikely benign
Select item 314229	NM_182894.3(VSX2):c.*1565G>A	VSX2	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 2 +1 more	GUncertain significance
Select item 314227	NM_182894.3(VSX2):c.*1521T>C	VSX2	Single nucleotide variant (3 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 314226	NM_182894.3(VSX2):c.*1511C>T	VSX2	Single nucleotide variant (3 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 314225	NM_182894.3(VSX2):c.*1447C>G	VSX2	Single nucleotide variant (3 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 314224	NM_182894.3(VSX2):c.*1377C>T	VSX2	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 2 +2 more	GConflicting classifications of pathogenicity
Select item 314222	NM_182894.3(VSX2):c.*1311G>A	VSX2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 314221	NM_182894.3(VSX2):c.*1302G>A	VSX2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 314220	NM_182894.3(VSX2):c.*1212G>A	VSX2	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 2 +1 more	GLikely benign
Select item 314219	NM_182894.3(VSX2):c.*1161C>A	VSX2	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 2 +2 more	GConflicting classifications of pathogenicity
Select item 314218	NM_182894.3(VSX2):c.*1074C>T	VSX2	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 2 +2 more	GBenign/Likely benign
Select item 314217	NM_182894.3(VSX2):c.*1029T>A	VSX2	Single nucleotide variant (3 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 314216	NM_182894.3(VSX2):c.*855G>A	VSX2	Single nucleotide variant (3 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 314215	NM_182894.3(VSX2):c.*775A>G	VSX2	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 2 +1 more	GUncertain significance
Select item 314214	NM_182894.3(VSX2):c.*670G>A	VSX2	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 2 +1 more	GBenign/Likely benign
Select item 314213	NM_182894.3(VSX2):c.*579C>T	VSX2	Single nucleotide variant (3 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GBenign
Select item 314212	NM_182894.3(VSX2):c.*455C>T	VSX2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 314211	NM_182894.3(VSX2):c.*261G>T	VSX2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GLikely benign
Select item 314210	NM_182894.3(VSX2):c.*250C>T	VSX2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 314209	NM_182894.3(VSX2):c.*156G>A	VSX2	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 2 +1 more	GUncertain significance
Select item 314208	NM_182894.3(VSX2):c.*54G>A	VSX2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 314207	NM_182894.3(VSX2):c.*45T>C	VSX2	Single nucleotide variant (3 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 314206	NM_182894.3(VSX2):c.*39C>T	VSX2	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 2 +2 more	GBenign/Likely benign
Select item 314205	NM_182894.3(VSX2):c.*13T>G	VSX2	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 2 +1 more	GUncertain significance
Select item 314204	NM_182894.3(VSX2):c.*11G>A	VSX2	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 2 +1 more	GUncertain significance
Select item 314203	NM_182894.3(VSX2):c.939T>A (p.Ala313=)	VSX2	Single nucleotide variant (synonymous variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GConflicting classifications of pathogenicity
Select item 314202	NM_182894.3(VSX2):c.921G>T (p.Ala307=)	VSX2	Single nucleotide variant (synonymous variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 314201	NM_182894.3(VSX2):c.874G>C (p.Ala292Pro)	VSX2 (A292P)	Single nucleotide variant (missense variant)	Isolated microphthalmia 2 +1 more	GUncertain significance
Select item 314199	NM_182894.3(VSX2):c.810C>G (p.Pro270=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2 +1 more	GConflicting classifications of pathogenicity
Select item 314198	NM_182894.3(VSX2):c.777G>T (p.Ser259=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2 +1 more	GConflicting classifications of pathogenicity
Select item 314197	NM_182894.3(VSX2):c.777G>A (p.Ser259=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2 +1 more	GConflicting classifications of pathogenicity
Select item 314196	NM_182894.3(VSX2):c.750G>A (p.Pro250=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2 +1 more	GConflicting classifications of pathogenicity
Select item 314195	NM_182894.3(VSX2):c.579G>A (p.Gln193=)	VSX2	Single nucleotide variant (synonymous variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GConflicting classifications of pathogenicity
Select item 314194	NM_182894.3(VSX2):c.533G>A (p.Arg178Gln)	VSX2 (R178Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 314193	NM_182894.3(VSX2):c.306C>A (p.Ser102Arg)	VSX2 (S102R)	Single nucleotide variant (missense variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 314192	NM_182894.3(VSX2):c.175G>A (p.Gly59Arg)	VSX2 (G59R)	Single nucleotide variant (missense variant)	Isolated microphthalmia 2 +1 more	GUncertain significance
Select item 314190	NM_182894.3(VSX2):c.-54G>A	VSX2	Single nucleotide variant (5 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 314189	NM_182894.3(VSX2):c.-68G>C	VSX2	Single nucleotide variant (5 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 285031	NM_182894.3(VSX2):c.244G>A (p.Gly82Arg)	VSX2 (G82R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 197896	NM_182894.3(VSX2):c.831G>A (p.Leu277=)	VSX2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 197895	NM_182894.3(VSX2):c.871G>A (p.Asp291Asn)	VSX2 (D291N)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 167840	NM_182894.3(VSX2):c.471C>T (p.Ser157=)	VSX2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 167839	NM_182894.3(VSX2):c.299C>A (p.Pro100Gln)	VSX2 (P100Q)	Single nucleotide variant (missense variant)	Isolated microphthalmia 2 +3 more	GConflicting classifications of pathogenicity
Select item 68079	NM_182894.3(VSX2):c.866G>A (p.Gly289Asp)	VSX2 (G289D)	Single nucleotide variant (missense variant)	Microphthalmia, isolated, with coloboma 3	GUncertain significance
Select item 14862	NM_182894.3(VSX2):c.679C>T (p.Arg227Trp)	VSX2 (R227W)	Single nucleotide variant (missense variant)	Isolated microphthalmia 2 +2 more	GConflicting classifications of pathogenicity
Select item 14861	NM_182894.3(VSX2):c.599G>C (p.Arg200Pro)	VSX2 (R200P)	Single nucleotide variant (missense variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GPathogenic/Likely pathogenic

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Items: 82