Related gene-specific medical variations for Gene (Select 101926963) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369537	NM_001164760.2(PRKAR1B):c.478G>C (p.Ala160Pro)	PRKAR1B, PRKAR1B-AS1 (A160P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365666	NM_001164760.2(PRKAR1B):c.520T>G (p.Phe174Val)	PRKAR1B, PRKAR1B-AS1 (F174V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363789	NM_001164760.2(PRKAR1B):c.475A>G (p.Ile159Val)	PRKAR1B, PRKAR1B-AS1 (I159V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363399	NM_001164760.2(PRKAR1B):c.511G>A (p.Gly171Arg)	PRKAR1B, PRKAR1B-AS1 (G171R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363314	NM_001164760.2(PRKAR1B):c.549+5G>T	PRKAR1B, PRKAR1B-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3343467	NM_001164760.2(PRKAR1B):c.470C>T (p.Thr157Ile)	PRKAR1B, PRKAR1B-AS1 (T157I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3050103	NM_001164760.2(PRKAR1B):c.528C>T (p.Val176=)	PRKAR1B, PRKAR1B-AS1	Single nucleotide variant (synonymous variant)	PRKAR1B-related disorder	GLikely benign
Select item 2572367	NM_001164760.2(PRKAR1B):c.522C>G (p.Phe174Leu)	PRKAR1B, PRKAR1B-AS1 (F174L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430509	NM_001164760.2(PRKAR1B):c.522C>A (p.Phe174Leu)	PRKAR1B, PRKAR1B-AS1 (F174L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2312310	NM_001164760.2(PRKAR1B):c.478G>A (p.Ala160Thr)	PRKAR1B, PRKAR1B-AS1 (A160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1329089	NM_001164760.2(PRKAR1B):c.500_501inv (p.Gln167Leu)	PRKAR1B, PRKAR1B-AS1	Inversion (missense variant)	Marbach-Schaaf neurodevelopmental syndrome	GPathogenic
Select item 444708	NM_001164760.2(PRKAR1B):c.537A>G (p.Gln179=)	PRKAR1B, PRKAR1B-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance