GLYAT[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 2272305	NM_201648.3(GLYAT):c.881T>C (p.Val294Ala)	GLYAT (V294A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342453	NM_201648.3(GLYAT):c.713G>A (p.Arg238Gln)	GLYAT (R238Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558100	NM_201648.3(GLYAT):c.697A>C (p.Thr233Pro)	GLYAT (T233P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308241	NM_201648.3(GLYAT):c.689T>G (p.Met230Arg)	GLYAT (M230R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410055	NM_201648.3(GLYAT):c.649G>C (p.Val217Leu)	GLYAT (V217L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394010	NM_201648.3(GLYAT):c.646C>A (p.Pro216Thr)	GLYAT (P216T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546578	NM_201648.3(GLYAT):c.641G>T (p.Gly214Val)	GLYAT (G214V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241659	NM_201648.3(GLYAT):c.622T>C (p.Cys208Arg)	GLYAT (C208R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487243	NM_201648.3(GLYAT):c.619T>C (p.Cys207Arg)	GLYAT (C207R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237013	NM_201648.3(GLYAT):c.553T>C (p.Trp185Arg)	GLYAT (W185R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541531	NM_201648.3(GLYAT):c.469G>C (p.Gly157Arg)	GLYAT (G157R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255020	NM_201648.3(GLYAT):c.415A>G (p.Thr139Ala)	GLYAT (T139A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605537	NM_201648.3(GLYAT):c.413A>C (p.Glu138Ala)	GLYAT (E138A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523251	NM_201648.3(GLYAT):c.398T>G (p.Leu133Arg)	GLYAT (L133R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511441	NM_201648.3(GLYAT):c.391C>A (p.Arg131Ser)	GLYAT (R131S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393846	NM_201648.3(GLYAT):c.283C>T (p.Leu95Phe)	GLYAT (L95F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300199	NM_201648.3(GLYAT):c.187C>A (p.Gln63Lys)	GLYAT (Q63K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323692	NM_201648.3(GLYAT):c.167T>C (p.Val56Ala)	GLYAT (V56A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220546	NM_201648.3(GLYAT):c.105A>G (p.Ile35Met)	GLYAT (I35M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 972998	GRCh37/hg19 11q12.1(chr11:58237819-58800374)x3	CNTF, GLYAT +5 more	Copy number gain	not provided	Gnot provided
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic

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Items: 29