"Ambry Genetics"[submitter] AND "GLYR1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3100439	NM_032569.4(GLYR1):c.1570G>T (p.Ala524Ser)	GLYR1 (A443S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247916	NM_032569.4(GLYR1):c.1436G>A (p.Ser479Asn)	GLYR1 (S398N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100438	NM_032569.4(GLYR1):c.1134G>T (p.Arg378Ser)	GLYR1 (R297S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100450	NM_032569.4(GLYR1):c.995C>T (p.Ser332Leu)	GLYR1 (S326L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407937	NM_032569.4(GLYR1):c.991G>T (p.Val331Leu)	GLYR1 (V250L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100449	NM_032569.4(GLYR1):c.724T>C (p.Cys242Arg)	GLYR1 (C242R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3100448	NM_032569.4(GLYR1):c.703A>G (p.Ile235Val)	GLYR1 (I154V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3100447	NM_032569.4(GLYR1):c.667A>T (p.Ser223Cys)	GLYR1 (S142C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388040	NM_032569.4(GLYR1):c.638C>T (p.Ala213Val)	GLYR1 (A132V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100445	NM_032569.4(GLYR1):c.616G>A (p.Ala206Thr)	GLYR1 (A125T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100444	NM_032569.4(GLYR1):c.595G>A (p.Ala199Thr)	GLYR1 (A118T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100443	NM_032569.4(GLYR1):c.583G>A (p.Gly195Arg)	GLYR1 (G114R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100442	NM_032569.4(GLYR1):c.560G>C (p.Ser187Thr)	GLYR1 (S106T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100441	NM_032569.4(GLYR1):c.479T>C (p.Leu160Pro)	GLYR1 (L160P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2297272	NM_032569.4(GLYR1):c.422G>A (p.Gly141Glu)	GLYR1 (G141E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2335702	NM_032569.4(GLYR1):c.418A>G (p.Met140Val)	GLYR1 (M140V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2290333	NM_032569.4(GLYR1):c.390C>A (p.Ser130Arg)	GLYR1 (S130R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2239084	NM_032569.4(GLYR1):c.380G>A (p.Arg127His)	GLYR1 (R127H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2391823	NM_032569.4(GLYR1):c.340A>T (p.Ser114Cys)	GLYR1 (S114C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3100440	NM_032569.4(GLYR1):c.245C>T (p.Ala82Val)	GLYR1 (A82V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489978	NM_032569.4(GLYR1):c.172G>A (p.Glu58Lys)	GLYR1 (E58K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 21