ClinVar for Gene (Select 92292) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3100411	NM_001389712.2(GLYATL1):c.853G>A (p.Ala285Thr)	GLYATL1, LOC283194 (A244T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100410	NM_001389712.2(GLYATL1):c.787T>G (p.Tyr263Asp)	GLYATL1, LOC283194 (Y294D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100409	NM_001389712.2(GLYATL1):c.545T>A (p.Val182Glu)	GLYATL1, LOC283194 (V141E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100408	NM_001389712.2(GLYATL1):c.346G>C (p.Val116Leu)	GLYATL1, LOC283194 (V116L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100407	NM_001389712.2(GLYATL1):c.220G>A (p.Val74Ile)	GLYATL1, LOC283194 (V105I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2569205	NM_001389712.2(GLYATL1):c.758A>G (p.Lys253Arg)	GLYATL1, LOC283194 (K212R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560961	NM_001389712.2(GLYATL1):c.399G>T (p.Leu133Phe)	GLYATL1, LOC283194 (L133F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519583	NM_001389712.2(GLYATL1):c.430T>A (p.Ser144Thr)	GLYATL1, LOC283194 (S175T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509371	NM_001389712.2(GLYATL1):c.424A>T (p.Asn142Tyr)	GLYATL1, LOC283194 (N173Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495845	NM_001389712.2(GLYATL1):c.606A>G (p.Ile202Met)	GLYATL1, LOC283194 (I202M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482178	NM_001389712.2(GLYATL1):c.886C>G (p.Pro296Ala)	GLYATL1, LOC283194 (P255A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481868	NM_001389712.2(GLYATL1):c.861T>G (p.Cys287Trp)	GLYATL1, LOC283194 (C246W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469059	NM_001389712.2(GLYATL1):c.854C>A (p.Ala285Asp)	GLYATL1, LOC283194 (A244D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385673	NM_001389712.2(GLYATL1):c.841G>C (p.Gly281Arg)	GLYATL1, LOC283194 (G240R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359935	NM_001389712.2(GLYATL1):c.821G>A (p.Arg274His)	GLYATL1, LOC283194 (R233H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351975	NM_001389712.2(GLYATL1):c.404C>T (p.Thr135Met)	GLYATL1, LOC283194 (T166M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299686	NM_001389712.2(GLYATL1):c.506T>A (p.Phe169Tyr)	GLYATL1, LOC283194 (F169Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292199	NM_001389712.2(GLYATL1):c.650C>T (p.Pro217Leu)	GLYATL1, LOC283194 (P248L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259808	NM_001389712.2(GLYATL1):c.706G>C (p.Glu236Gln)	GLYATL1, LOC283194 (E236Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247281	NM_001389712.2(GLYATL1):c.533A>G (p.Tyr178Cys)	GLYATL1, LOC283194 (Y137C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242253	NM_001389712.2(GLYATL1):c.231G>T (p.Met77Ile)	GLYATL1, LOC283194 (M108I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980952	GRCh37/hg19 11q12.1(chr11:58602498-59091934)x3	DTX4, FAM111A +4 more	Copy number gain	not provided	GUncertain significance
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)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +1289 more	Copy number gain	See cases	GPathogenic
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 32