C2936862[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1147	NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)	BBS12 (R355*)	Single nucleotide variant (nonsense)	Abnormal cardiovascular system morphology +5 more	GPathogenic
Select item 555491	NM_024649.5(BBS1):c.1A>C (p.Met1Leu)	BBS1 (M1L)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 554279	NM_024649.5(BBS1):c.1A>T (p.Met1Leu)	BBS1 (M1L)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 412283	NM_024649.5(BBS1):c.17dup (p.Ser7fs)	BBS1 (S7fs)	Duplication (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 553325	NM_024649.5(BBS1):c.47+2T>C	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 371141	NM_024649.5(BBS1):c.48-2A>C	BBS1	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 551439	NM_024649.5(BBS1):c.48-1G>T	BBS1	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 557428	NM_024649.5(BBS1):c.124+1G>A	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 1	GPathogenic
Select item 370386	NM_024649.5(BBS1):c.124+1G>C	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 556015	NM_024649.5(BBS1):c.158dup (p.Leu54fs)	BBS1 (L54fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 370462	NM_024649.5(BBS1):c.159+2T>A	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 371100	NM_024649.5(BBS1):c.182del (p.Pro61fs)	BBS1 (P61fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 370389	NM_024649.5(BBS1):c.223_224del (p.Leu75fs)	BBS1 (L75fs)	Deletion (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 555614	NM_024649.5(BBS1):c.345dup (p.Lys116Ter)	BBS1 (K116*)	Duplication (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 12145	NM_024649.5(BBS1):c.432+1G>A	BBS1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 550336	NM_024649.5(BBS1):c.432+9_432+12del	BBS1	Microsatellite (splice donor variant)	Bardet-Biedl syndrome 1	GLikely benign
Select item 305459	NM_024649.5(BBS1):c.432+13C>T	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 558724	NM_024649.5(BBS1):c.433-2A>G	BBS1	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 188752	NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)	BBS1 (R146*)	Single nucleotide variant (nonsense)	BBS1-related condition +3 more	GPathogenic/Likely pathogenic
Select item 370228	NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)	BBS1 (R160Q)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 551379	NM_024649.5(BBS1):c.479+2T>G	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome +1 more	GLikely pathogenic
Select item 371003	NM_024649.5(BBS1):c.480-1G>C	BBS1	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 1	GPathogenic/Likely pathogenic
Select item 552575	NM_024649.5(BBS1):c.518+1G>A	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 370456	NM_024649.5(BBS1):c.519-2A>G	BBS1	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 554929	NM_024649.5(BBS1):c.664G>C (p.Gly222Arg)	BBS1 (G222R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 552356	NM_024649.5(BBS1):c.724-1G>C	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 370225	NM_024649.5(BBS1):c.786del (p.Ala264fs)	BBS1, ZDHHC24 (A264fs)	Deletion (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 371517	NM_024649.5(BBS1):c.831-2A>G	BBS1, ZDHHC24	Single nucleotide variant (splice acceptor variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 370358	NM_024649.5(BBS1):c.855C>A (p.Cys285Ter)	BBS1, ZDHHC24 (C285*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 371274	NM_024649.5(BBS1):c.871C>T (p.Gln291Ter)	BBS1, ZDHHC24 (Q291*)	Single nucleotide variant (nonsense +1 more)	BBS1-related condition +2 more	GPathogenic
Select item 370919	NM_024649.5(BBS1):c.951+1G>A	BBS1, ZDHHC24	Single nucleotide variant (splice donor variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 370653	NM_024649.5(BBS1):c.952-1G>A	BBS1, ZDHHC24	Single nucleotide variant (splice acceptor variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GLikely pathogenic
Select item 444259	NM_024649.5(BBS1):c.952G>A (p.Gly318Arg)	BBS1, ZDHHC24 (G318R)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 370281	NM_024649.5(BBS1):c.981del (p.Ala328fs)	BBS1, ZDHHC24 (A328fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 550360	NM_024649.5(BBS1):c.1061A>G (p.Glu354Gly)	BBS1, ZDHHC24 (E354G)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 370496	NM_024649.5(BBS1):c.1072del (p.Tyr358fs)	BBS1, ZDHHC24 (Y358fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 553357	NM_024649.5(BBS1):c.1110G>A (p.Pro370=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 216740	NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln)	ZDHHC24, BBS1 (R380Q)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 412287	NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter)	BBS1, ZDHHC24 (E414*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 188983	NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)	BBS1, ZDHHC24 (R429*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 551887	NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter)	BBS1, ZDHHC24 (R440*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 553542	NM_024649.5(BBS1):c.1340-1G>T	BBS1, ZDHHC24	Single nucleotide variant (splice acceptor variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 553567	NM_024649.5(BBS1):c.1393_1394insTGCC (p.Arg465fs)	BBS1, ZDHHC24 (R465fs)	Insertion (frameshift variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 370965	NM_024649.5(BBS1):c.1423del (p.Ser474_Leu475insTer)	ZDHHC24, BBS1	Deletion (nonsense +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 371133	NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs)	BBS1, ZDHHC24 (L505fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 1 +2 more	GPathogenic
Select item 225300	NM_024649.5(BBS1):c.1535G>A (p.Arg512His)	ZDHHC24, BBS1 (R512H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 556565	NM_024649.5(BBS1):c.1585dup (p.Ser529fs)	BBS1, ZDHHC24 (S529fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 558603	NM_024649.5(BBS1):c.1609-2A>T	BBS1, ZDHHC24	Single nucleotide variant (splice acceptor variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 552080	NM_024649.5(BBS1):c.1631T>A (p.Leu544His)	BBS1, ZDHHC24 (L544H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 554520	NM_024649.5(BBS1):c.1642del (p.Leu548fs)	BBS1, ZDHHC24 (L548fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 371262	NM_024649.5(BBS1):c.1643dup (p.Glu549fs)	BBS1, ZDHHC24 (E549fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 12144	NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)	BBS1, ZDHHC24 (E549*)	Single nucleotide variant (nonsense +1 more)	BBS1-related condition +5 more	GPathogenic/Likely pathogenic
Select item 551732	NM_024649.5(BBS1):c.1676_1678del (p.Gly559_Ile560delinsVal)	BBS1, ZDHHC24	Deletion (inframe_indel +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 556969	NM_024649.5(BBS1):c.1695G>A (p.Lys565=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 554928	NM_024649.5(BBS1):c.1702G>A (p.Val568Met)	BBS1, ZDHHC24 (V568M)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 557984	NM_024649.5(BBS1):c.1717C>T (p.Gln573Ter)	BBS1, ZDHHC24 (Q573*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 305474	NM_024649.5(BBS1):c.*10T>A	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	BBS1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 166723	NM_024685.4(BBS10):c.1091del (p.Asn364fs)	BBS10 (N364fs)	Deletion	not provided +3 more	GPathogenic/Likely pathogenic
Select item 235677	NM_024685.4(BBS10):c.765G>A (p.Met255Ile)	BBS10 (M255I)	Single nucleotide variant (missense variant)	BBS10-related condition +4 more	GConflicting classifications of pathogenicity
Select item 225010	NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)	BBS10 (R49W)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +10 more	GPathogenic/Likely pathogenic

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Items: 60