"GeneDx"[submitter] AND "BRSK2"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 1279834	NM_001256627.2(BRSK2):c.-14C>T	BRSK2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3373067	NM_001256627.2(BRSK2):c.62T>A (p.Leu21Gln)	BRSK2 (L21Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2505705	NM_001256627.2(BRSK2):c.82G>C (p.Gly28Arg)	BRSK2 (G28R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2663692	NM_001256627.2(BRSK2):c.91+21243CAGCC[3]	BRSK2 (G77fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2446195	NM_001256627.2(BRSK2):c.97G>A (p.Val33Met)	BRSK2 (V33M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3365193	NM_001256627.2(BRSK2):c.134T>C (p.Val45Ala)	BRSK2 (V45A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2580066	NM_001256627.2(BRSK2):c.155G>A (p.Arg52His)	BRSK2 (R52H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1307828	NM_001256627.2(BRSK2):c.155G>C (p.Arg52Pro)	BRSK2 (R52P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3370740	NM_001256627.2(BRSK2):c.167G>A (p.Ser56Asn)	BRSK2 (S102N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1801019	NM_001256627.2(BRSK2):c.184_186del (p.Lys62del)	BRSK2 (K108del +2 more)	Deletion (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 3252863	NM_001256627.2(BRSK2):c.383C>T (p.Ala128Val)	BRSK2 (A128V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1722833	NM_001256627.2(BRSK2):c.458ACA[1] (p.Asn154del)	BRSK2 (N154del +2 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2443376	NM_001256627.2(BRSK2):c.500T>C (p.Val167Ala)	BRSK2 (V107A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2499850	NM_001256627.2(BRSK2):c.527G>A (p.Cys176Tyr)	BRSK2 (C116Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1809930	NM_001256627.2(BRSK2):c.533C>T (p.Ser178Phe)	BRSK2 (S118F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2502722	NM_001256627.2(BRSK2):c.548G>A (p.Cys183Tyr)	BRSK2 (C123Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1276111	NM_001256627.2(BRSK2):c.564+13C>T	BRSK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1329749	NM_001256627.2(BRSK2):c.572A>G (p.Lys191Arg)	BRSK2 (K131R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1315399	NM_001256627.2(BRSK2):c.682G>A (p.Val228Met)	BRSK2 (V168M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1303543	NM_001256627.2(BRSK2):c.832G>C (p.Glu278Gln)	BRSK2 (E218Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 503810	NM_001256627.2(BRSK2):c.902_906dup (p.Leu303fs)	BRSK2 (L243fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1698132	NM_001256627.2(BRSK2):c.918G>A (p.Met306Ile)	BRSK2 (M246I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363903	NM_001256627.2(BRSK2):c.937C>G (p.Arg313Gly)	BRSK2 (R253G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1687426	NM_001256627.2(BRSK2):c.937C>T (p.Arg313Ter)	BRSK2 (R253* +2 more)	Single nucleotide variant (nonsense +1 more)	BRSK2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2688684	NM_001256627.2(BRSK2):c.1063dup (p.Arg355fs)	BRSK2 (R295fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1695678	NM_001256627.2(BRSK2):c.1066A>G (p.Asn356Asp)	BRSK2 (N296D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1308426	NM_001256627.2(BRSK2):c.1127GGC[1] (p.Arg377del)	BRSK2 (R317del +2 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1803474	NM_001256627.2(BRSK2):c.1159A>G (p.Ser387Gly)	BRSK2 (S327G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1304639	NM_001256627.2(BRSK2):c.1394C>T (p.Pro465Leu)	BRSK2 (P405L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2136011	NM_001256627.2(BRSK2):c.1574TCA[1] (p.Ile526del)	BRSK2 (I466del +2 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2662708	NM_001256627.2(BRSK2):c.1585G>A (p.Glu529Lys)	BRSK2 (E469K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1706173	NM_001256627.2(BRSK2):c.1619A>C (p.Asp540Ala)	BRSK2 (D480A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1706955	NM_001256627.2(BRSK2):c.1636A>T (p.Ile546Phe)	BRSK2 (I486F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2442675	NM_001256627.2(BRSK2):c.1756C>T (p.Pro586Ser)	BRSK2 (P526S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1246735	NM_001256627.2(BRSK2):c.1849+10C>T	BRSK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1704852	NM_001256627.2(BRSK2):c.1939+300G>A	BRSK2 (G598S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2499792	NM_001256627.2(BRSK2):c.1948A>G (p.Asn650Asp)	BRSK2 (N650D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3364157	NM_001256627.2(BRSK2):c.1961T>C (p.Met654Thr)	BRSK2 (M654T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1708569	NM_001256627.2(BRSK2):c.1979C>T (p.Ser660Phe)	BRSK2 (S660F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1201733	NM_001256627.2(BRSK2):c.1987+2del	BRSK2	Deletion (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 3372560	NM_001256627.2(BRSK2):c.2010dup (p.Asp671Ter)	BRSK2 (D671*)	Duplication (nonsense +1 more)	not provided	GUncertain significance
Select item 2443574	NM_001256627.2(BRSK2):c.2022A>C (p.Lys674Asn)	BRSK2 (K674N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 871726	NM_001256627.2(BRSK2):c.2042del (p.Lys681fs)	BRSK2 (K681fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1698246	NM_001256627.2(BRSK2):c.2059del (p.Gln687fs)	BRSK2 (Q687fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1313350	NM_001256627.2(BRSK2):c.2059C>T (p.Gln687Ter)	BRSK2 (Q687* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3368508	NM_001256627.2(BRSK2):c.2140_2159del (p.Asp714fs)	BRSK2 (D714fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1281661	NM_001256627.2(BRSK2):c.2188A>G (p.Thr730Ala)	BRSK2 (T730A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3362069	NM_001256627.2(BRSK2):c.1331C>G (p.Pro444Arg)	BRSK2 (P384R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361560	NM_001256627.2(BRSK2):c.634G>A (p.Gly212Arg)	BRSK2 (G152R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361260	NM_001256627.2(BRSK2):c.539A>G (p.His180Arg)	BRSK2 (H120R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 52