"PreventionGenetics, part of Exact Sciences"[submitter] AND "PRKAR1B"[ - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1210096	NM_001164760.2(PRKAR1B):c.1065C>T (p.Phe355=)	PRKAR1B	Single nucleotide variant (synonymous variant)	PRKAR1B-related disorder	GBenign
Select item 730568	NM_001164760.2(PRKAR1B):c.1017C>T (p.Val339=)	PRKAR1B	Single nucleotide variant (synonymous variant)	PRKAR1B-related disorder +1 more	GBenign/Likely benign
Select item 1210100	NM_001164760.2(PRKAR1B):c.1014T>C (p.Thr338=)	PRKAR1B	Single nucleotide variant (synonymous variant)	PRKAR1B-related disorder	GBenign
Select item 3057463	NM_001164760.2(PRKAR1B):c.998G>A (p.Arg333Gln)	PRKAR1B (R333Q)	Single nucleotide variant (missense variant)	PRKAR1B-related disorder	GLikely benign
Select item 1210095	NM_001164760.2(PRKAR1B):c.984A>G (p.Ala328=)	PRKAR1B	Single nucleotide variant (synonymous variant)	PRKAR1B-related disorder	GBenign
Select item 1209930	NM_001164760.2(PRKAR1B):c.974-8A>C	PRKAR1B	Single nucleotide variant (intron variant)	PRKAR1B-related disorder	GBenign
Select item 787312	NM_001164760.2(PRKAR1B):c.972C>T (p.Phe324=)	PRKAR1B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2630642	NM_001164760.2(PRKAR1B):c.943G>A (p.Val315Met)	PRKAR1B (V315M)	Single nucleotide variant (missense variant)	PRKAR1B-related disorder	GUncertain significance
Select item 716872	NM_001164760.2(PRKAR1B):c.709-6G>A	PRKAR1B	Single nucleotide variant (intron variant)	PRKAR1B-related disorder +1 more	GBenign/Likely benign
Select item 788669	NM_001164760.2(PRKAR1B):c.642C>T (p.Thr214=)	PRKAR1B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 793550	NM_001164760.2(PRKAR1B):c.339C>T (p.Tyr113=)	PRKAR1B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 794456	NM_001164760.2(PRKAR1B):c.258C>A (p.Pro86=)	PRKAR1B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 733658	NM_001164760.2(PRKAR1B):c.178-3C>T	PRKAR1B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 745324	NM_001164760.2(PRKAR1B):c.63C>T (p.Tyr21=)	PRKAR1B	Single nucleotide variant (synonymous variant)	PRKAR1B-related disorder +1 more	GLikely benign
Select item 3003647	NM_017802.4(DNAAF5):c.24G>A (p.Glu8=)	DNAAF5, PRKAR1B	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 260938	NM_017802.4(DNAAF5):c.72G>A (p.Ala24=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 454867	NM_017802.4(DNAAF5):c.385G>C (p.Val129Leu)	DNAAF5, PRKAR1B (V129L)	Single nucleotide variant (missense variant +2 more)	DNAAF5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 241207	NM_017802.4(DNAAF5):c.477G>A (p.Ala159=)	DNAAF5, PRKAR1B	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 260935	NM_017802.4(DNAAF5):c.595+18C>T	LOC129997732, PRKAR1B +1 more	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GLikely benign

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Items: 20