ClinVar for MedGen (Select 1812470) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233326	NM_001366521.1(ATP2B1):c.1816A>G (p.Ile606Val)	ATP2B1 (I419V +7 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 2688644	NM_001366521.1(ATP2B1):c.758C>G (p.Ser253Cys)	ATP2B1 (S102C +3 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 2683828	NM_001366521.1(ATP2B1):c.2509_2512del (p.Ser837fs)	ATP2B1 (S650fs +7 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder, autosomal dominant 66	GLikely pathogenic
Select item 2626973	NM_001366521.1(ATP2B1):c.406+1G>A	ATP2B1	Single nucleotide variant (intron variant +1 more)	Intellectual developmental disorder, autosomal dominant 66	GLikely pathogenic
Select item 2582467	NM_001366521.1(ATP2B1):c.1550G>C (p.Gly517Ala)	ATP2B1 (G330A +6 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 2444387	NM_001366521.1(ATP2B1):c.3367G>T (p.Ala1123Ser)	ATP2B1 (A1038S +13 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 1801725	NM_001366521.1(ATP2B1):c.2359G>T (p.Asp787Tyr)	ATP2B1 (D600Y +7 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 1712324	NM_001366521.1(ATP2B1):c.2426A>G (p.Asp809Gly)	ATP2B1 (D622G +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 1710505	NM_001366521.1(ATP2B1):c.3632G>T (p.Ser1211Ile)	ATP2B1 (S1211I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 1697311	NM_001366521.1(ATP2B1):c.1235A>G (p.Tyr412Cys)	ATP2B1 (Y225C +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 1684514	NM_001366521.1(ATP2B1):c.1907_1908del (p.Val636fs)	ATP2B1 (V449fs +2 more)	Microsatellite (frameshift variant)	Intellectual developmental disorder, autosomal dominant 66	GLikely pathogenic
Select item 1679166	NM_001366521.1(ATP2B1):c.458G>A (p.Trp153Ter)	ATP2B1 (W153* +1 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1679165	NM_001366521.1(ATP2B1):c.2632C>T (p.Gln878Ter)	ATP2B1 (Q691* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GPathogenic
Select item 1679161	NM_001366521.1(ATP2B1):c.1274C>A (p.Thr425Lys)	ATP2B1 (T238K +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1679160	NM_001366521.1(ATP2B1):c.791C>T (p.Thr264Ile)	ATP2B1 (T198I +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1679159	NM_001366521.1(ATP2B1):c.716A>G (p.Asp239Gly)	ATP2B1 (D173G +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic