ClinVar for MedGen (Select 930339) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067873	NM_182978.4(GNAL):c.910G>A (p.Asp304Asn)	GNAL (D20N +2 more)	Single nucleotide variant (missense variant)	Dystonia 25	GLikely pathogenic
Select item 2920750	NM_182978.4(GNAL):c.377-261G>C	GNAL	Single nucleotide variant (intron variant)	Dystonia 25	GUncertain significance
Select item 1806039	NM_182978.4(GNAL):c.311G>A (p.Gly104Asp)	GNAL (G104D)	Single nucleotide variant (missense variant)	Dystonia 25	GUncertain significance
Select item 1285298	NM_182978.4(GNAL):c.625-31T>G	GNAL	Single nucleotide variant (intron variant)	Dystonia 25 +2 more	GBenign
Select item 1246973	NM_182978.4(GNAL):c.-41T>C	GNAL	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 803476	NM_182978.4(GNAL):c.764C>T (p.Thr255Ile)	GNAL (T178I +1 more)	Single nucleotide variant (missense variant +1 more)	Dystonia 25	GUncertain significance
Select item 626333	NM_182978.4(GNAL):c.964C>T (p.Arg322Ter)	GNAL (R245* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 626332	NM_182978.4(GNAL):c.505-5T>C	GNAL	Single nucleotide variant (intron variant)	Dystonic disorder	GUncertain significance
Select item 626331	NM_182978.4(GNAL):c.1163-7T>G	GNAL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 526226	NM_182978.4(GNAL):c.540A>G (p.Pro180=)	GNAL	Single nucleotide variant (synonymous variant)	Dystonic disorder +1 more	GLikely benign
Select item 39972	NM_001369387.1(GNAL):c.61C>T (p.Arg21Ter)	GNAL (R21*)	Single nucleotide variant (nonsense +1 more)	Dystonia 25	GPathogenic
Select item 39971	NM_182978.4(GNAL):c.822dup (p.Arg275fs)	GNAL (R198fs +1 more)	Duplication (frameshift variant +1 more)	Dystonia 25	GPathogenic
Select item 39970	NM_182978.4(GNAL):c.514dup (p.Ser172fs)	GNAL (S95fs +1 more)	Duplication (frameshift variant)	Dystonia 25	GPathogenic
Select item 39969	NM_182978.4(GNAL):c.694G>A (p.Glu232Lys)	GNAL (E155K +1 more)	Single nucleotide variant (missense variant)	Dystonia 25	GPathogenic
Select item 39968	NM_182978.4(GNAL):c.1109C>A (p.Ser370Ter)	GNAL (S293* +2 more)	Single nucleotide variant (nonsense)	Dystonia 25	GPathogenic
Select item 39967	NM_182978.4(GNAL):c.640G>A (p.Val214Met)	GNAL (V137M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance