GLT8D1[gene] and "single gene"[properties] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1224650	NM_018446.4(GLT8D1):c.*57G>A	GLT8D1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1343319	NM_018446.4(GLT8D1):c.1108A>G (p.Ile370Val)	GLT8D1 (I370V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 3100365	NM_018446.4(GLT8D1):c.1032T>A (p.Asp344Glu)	GLT8D1 (D344E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357823	NM_018446.4(GLT8D1):c.1028C>T (p.Thr343Ile)	GLT8D1 (T343I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2596559	NM_018446.4(GLT8D1):c.965A>C (p.Lys322Thr)	GLT8D1 (K322T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257185	NM_018446.4(GLT8D1):c.926-5G>T	GLT8D1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2550538	NM_018446.4(GLT8D1):c.830G>T (p.Arg277Ile)	GLT8D1 (R277I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100370	NM_018446.4(GLT8D1):c.806A>G (p.Asn269Ser)	GLT8D1 (N269S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100369	NM_018446.4(GLT8D1):c.784C>G (p.Leu262Val)	GLT8D1 (L262V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100368	NM_018446.4(GLT8D1):c.683G>T (p.Arg228Ile)	GLT8D1 (R228I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1287305	NM_018446.4(GLT8D1):c.646-86_646-83dup	GLT8D1	Duplication (intron variant)	not provided	GBenign
Select item 1225352	NM_018446.4(GLT8D1):c.629G>A (p.Arg210His)	GLT8D1 (R210H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1344514	NM_018446.4(GLT8D1):c.393del (p.Lys131fs)	GLT8D1 (K131fs)	Deletion (frameshift variant)	Frontotemporal dementia	GLikely pathogenic
Select item 2207401	NM_018446.4(GLT8D1):c.379A>G (p.Asn127Asp)	GLT8D1 (N127D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1294782	NM_018446.4(GLT8D1):c.330-24A>C	GLT8D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278330	NM_018446.4(GLT8D1):c.329+182_329+184del	GLT8D1	Deletion (intron variant)	not provided	GBenign
Select item 1253649	NM_018446.4(GLT8D1):c.329+139A>G	GLT8D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2519487	NM_018446.4(GLT8D1):c.328C>T (p.Arg110Trp)	GLT8D1 (R110W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100366	NM_018446.4(GLT8D1):c.325C>T (p.Leu109Phe)	GLT8D1 (L109F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281655	NM_018446.4(GLT8D1):c.188A>G (p.Gln63Arg)	GLT8D1 (Q63R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653899	NM_018446.4(GLT8D1):c.166C>A (p.Arg56=)	GLT8D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1236734	NM_018446.4(GLT8D1):c.-36-69del	GLT8D1	Deletion (intron variant)	not provided	GBenign

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Items: 22