ClinVar for MedGen (Select 900192) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024238	NM_003038.5(SLC1A4):c.344G>A (p.Gly115Asp)	SLC1A4 (G115D)	Single nucleotide variant (missense variant +1 more)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	GLikely pathogenic
Select item 2690000	NM_003038.5(SLC1A4):c.1040C>A (p.Ala347Glu)	SLC1A4 (A127E +2 more)	Single nucleotide variant (missense variant)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	GUncertain significance
Select item 2684392	NM_003038.5(SLC1A4):c.1280G>A (p.Gly427Glu)	SLC1A4 (G129E +2 more)	Single nucleotide variant (missense variant)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	GUncertain significance
Select item 2585351	NM_003038.5(SLC1A4):c.1010C>A (p.Ala337Glu)	SLC1A4 (A337E +1 more)	Single nucleotide variant (missense variant +1 more)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	GUncertain significance
Select item 2575108	NM_003038.5(SLC1A4):c.1120G>A (p.Gly374Arg)	LINC02245, SLC1A4 (G154R +2 more)	Single nucleotide variant (missense variant)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	GLikely pathogenic
Select item 2500887	NM_003038.5(SLC1A4):c.925G>T (p.Gly309Ter)	SLC1A4 (G309* +1 more)	Single nucleotide variant (nonsense +1 more)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	GLikely pathogenic
Select item 2499988	NM_003038.5(SLC1A4):c.2T>C (p.Met1Thr)	SLC1A4 (M1T)	Single nucleotide variant (missense variant +2 more)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	GPathogenic
Select item 2435985	NM_003038.5(SLC1A4):c.442C>T (p.Leu148Phe)	SLC1A4 (L148F)	Single nucleotide variant (missense variant +1 more)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	GUncertain significance
Select item 2435984	NM_003038.5(SLC1A4):c.172_193del (p.Leu58fs)	SLC1A4 (L58fs)	Deletion (frameshift variant +1 more)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2435983	NM_003038.5(SLC1A4):c.570G>A (p.Thr190=)	SLC1A4	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	GUncertain significance
Select item 1878540	NM_003038.5(SLC1A4):c.964C>T (p.Arg322Ter)	SLC1A4 (R102* +1 more)	Single nucleotide variant (nonsense +1 more)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1723373	NM_003038.5(SLC1A4):c.885dup (p.Lys296fs)	SLC1A4 (K296fs +1 more)	Duplication (frameshift variant +1 more)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	GLikely pathogenic
Select item 1699945	NM_003038.5(SLC1A4):c.542C>T (p.Ser181Phe)	SLC1A4 (S181F)	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	GPathogenic
Select item 1699944	NM_003038.5(SLC1A4):c.971del (p.Asn324fs)	SLC1A4 (N104fs +1 more)	Deletion (frameshift variant +1 more)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	GPathogenic
Select item 1685441	NM_003038.5(SLC1A4):c.1370G>A (p.Arg457Gln)	SLC1A4 (R159Q +2 more)	Single nucleotide variant (missense variant)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1499237	NM_003038.5(SLC1A4):c.1439del (p.Lys480fs)	SLC1A4 (K182fs +2 more)	Deletion (frameshift variant)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1167921	NM_003038.5(SLC1A4):c.1195G>A (p.Val399Ile)	SLC1A4 (V101I +2 more)	Single nucleotide variant (missense variant)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome +1 more	GBenign
Select item 932144	NM_003038.5(SLC1A4):c.1141G>A (p.Gly381Arg)	SLC1A4 (G381R +2 more)	Single nucleotide variant (missense variant)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	GPathogenic
Select item 932143	NM_003038.5(SLC1A4):c.1358G>A (p.Trp453Ter)	SLC1A4 (W453* +2 more)	Single nucleotide variant (nonsense)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	GPathogenic
Select item 801718	NM_003038.5(SLC1A4):c.272T>C (p.Leu91Pro)	SLC1A4 (L91P)	Single nucleotide variant (missense variant +1 more)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome +1 more	GUncertain significance
Select item 800961	NM_003038.5(SLC1A4):c.1357T>C (p.Trp453Arg)	SLC1A4 (W453R +2 more)	Single nucleotide variant (missense variant)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	GLikely pathogenic
Select item 587616	NM_003038.5(SLC1A4):c.1316G>A (p.Gly439Glu)	SLC1A4 (G439E +2 more)	Single nucleotide variant (missense variant)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome +1 more	GUncertain significance
Select item 587615	NM_003038.5(SLC1A4):c.1364+1G>A	SLC1A4	Single nucleotide variant (splice donor variant)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	GPathogenic
Select item 488671	NM_003038.5(SLC1A4):c.1035-381_1230-73del	SLC1A4	Deletion (splice acceptor variant +1 more)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	GPathogenic
Select item 436740	NM_003038.5(SLC1A4):c.1520C>A (p.Ser507Ter)	SLC1A4 (S209* +2 more)	Single nucleotide variant (nonsense)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome +2 more	GUncertain significance
Select item 372158	NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp)	SLC1A4 (R457W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 372157	NM_003038.5(SLC1A4):c.944_945del (p.Leu315fs)	SLC1A4 (L95fs +1 more)	Deletion (frameshift variant +1 more)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	GPathogenic
Select item 265259	NM_003038.5(SLC1A4):c.766G>A (p.Glu256Lys)	SLC1A4 (E256K +1 more)	Single nucleotide variant (missense variant)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome +1 more	GPathogenic

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Links from MedGen

Items: 28