ClinVar for MedGen (Select 1716098) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064782	NM_001346249.2(RALGAPA1):c.1210A>G (p.Lys404Glu)	RALGAPA1 (K404E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation	GUncertain significance
Select item 3064374	NM_001346249.2(RALGAPA1):c.3743A>G (p.Gln1248Arg)	RALGAPA1 (Q1201R +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation	GUncertain significance
Select item 2584516	NM_001346249.2(RALGAPA1):c.7152_7155dup (p.Phe2386fs)	RALGAPA1 (F1880fs +4 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation	GLikely pathogenic
Select item 2584515	NM_001346249.2(RALGAPA1):c.1449+1G>T	RALGAPA1	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation	GLikely pathogenic
Select item 2582399	NM_001346249.2(RALGAPA1):c.5042_5043dup (p.Met1682Ter)	RALGAPA1 (M1176* +4 more)	Microsatellite (nonsense)	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation	GLikely pathogenic
Select item 1709194	NM_001346249.2(RALGAPA1):c.1213A>G (p.Arg405Gly)	RALGAPA1 (R405G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation	GUncertain significance
Select item 1342623	NM_001346249.2(RALGAPA1):c.3227A>T (p.Asp1076Val)	RALGAPA1 (D1029V +1 more)	Single nucleotide variant (intron variant +1 more)	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation	GUncertain significance
Select item 1341939	NM_001346249.2(RALGAPA1):c.727C>A (p.His243Asn)	RALGAPA1 (H243N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation +1 more	GUncertain significance
Select item 1333860	NM_001346249.2(RALGAPA1):c.4750A>G (p.Ile1584Val)	RALGAPA1 (I1078V +4 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation	GUncertain significance
Select item 1333352	NM_001346249.2(RALGAPA1):c.1409_1410del (p.Asp470fs)	RALGAPA1 (D470fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation	GPathogenic
Select item 1327936	NM_001346249.2(RALGAPA1):c.217+26G>T	RALGAPA1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation	GBenign
Select item 1327935	NM_001346249.2(RALGAPA1):c.4309A>G (p.Thr1437Ala)	RALGAPA1 (T1390A +4 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation	GBenign
Select item 1327934	NM_001346249.2(RALGAPA1):c.5608-9del	RALGAPA1	Deletion (intron variant)	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation	GBenign
Select item 1327933	NM_001346249.2(RALGAPA1):c.6857+40dup	RALGAPA1	Duplication (intron variant)	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation	GBenign
Select item 691798	NM_001346249.2(RALGAPA1):c.4745A>G (p.Asn1582Ser)	RALGAPA1 (N1535S +4 more)	Single nucleotide variant (missense variant)	Infantile spasms +3 more	GPathogenic
Select item 691797	NM_001346249.2(RALGAPA1):c.7250C>G (p.Ser2417Ter)	RALGAPA1 (S1911* +4 more)	Single nucleotide variant (nonsense)	Infantile spasms +3 more	GPathogenic
Select item 691796	NM_001346249.2(RALGAPA1):c.610G>T (p.Glu204Ter)	RALGAPA1 (E204*)	Single nucleotide variant (nonsense)	Infantile spasms +3 more	GPathogenic
Select item 691795	NM_001346249.2(RALGAPA1):c.6510del (p.Phe2170fs)	RALGAPA1 (F1711fs +4 more)	Deletion (frameshift variant)	Infantile spasms +3 more	GPathogenic
Select item 691794	NM_001346249.2(RALGAPA1):c.1126C>T (p.Arg376Ter)	RALGAPA1 (R376*)	Single nucleotide variant (nonsense)	Infantile spasms +3 more	GPathogenic