Related gene-specific medical variations for Gene (Select 92292) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281678	NM_001389712.2(GLYATL1):c.425A>G (p.Asn142Ser)	GLYATL1, LOC283194 (N101S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281677	NM_001389712.2(GLYATL1):c.694G>A (p.Ala232Thr)	GLYATL1, LOC283194 (A232T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281676	NM_001389712.2(GLYATL1):c.634G>A (p.Gly212Ser)	GLYATL1, LOC283194 (G171S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281675	NM_001389712.2(GLYATL1):c.374T>C (p.Val125Ala)	GLYATL1, LOC283194 (V84A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281674	NM_001389712.2(GLYATL1):c.670G>A (p.Asp224Asn)	GLYATL1, LOC283194 (D224N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281673	NM_001389712.2(GLYATL1):c.215C>T (p.Thr72Ile)	GLYATL1, LOC283194 (T72I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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

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Links from Gene

Items: 27