92482[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	ABLIM1, ACSL5 +308 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 151000	GRCh38/hg38 10q25.2-25.3(chr10:110804735-114884010)x1	ABLIM1, ACSL5 +134 more	Copy number loss	See cases	GLikely pathogenic
Select item 3350089	NM_001195305.3(BBIP1):c.278_*16del (p.Ter93Xaa)	BBIP1	Deletion (3 prime UTR variant +1 more)	BBIP1-related disorder	GUncertain significance
Select item 3352197	NM_001195305.3(BBIP1):c.*8C>G	BBIP1	Single nucleotide variant (3 prime UTR variant)	BBIP1-related disorder	GLikely benign
Select item 1969244	NM_001195305.3(BBIP1):c.272C>T (p.Thr91Ile)	BBIP1 (T66I +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1044270	NM_001195305.3(BBIP1):c.263G>A (p.Arg88Gln)	BBIP1 (R63Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 3008180	NM_001195305.3(BBIP1):c.262C>T (p.Arg88Trp)	BBIP1 (R63W +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1162049	NM_001195305.3(BBIP1):c.261A>G (p.Gln87=)	BBIP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1001453	NM_001195305.3(BBIP1):c.254A>G (p.Lys85Arg)	BBIP1 (K60R +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1475343	NM_001195305.3(BBIP1):c.251A>G (p.Glu84Gly)	BBIP1 (E84G +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1364265	NM_001195305.3(BBIP1):c.245_248dup (p.Glu84fs)	BBIP1 (E62fs +2 more)	Duplication (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1951563	NM_001195305.3(BBIP1):c.245T>C (p.Met82Thr)	BBIP1 (M57T +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1378460	NM_001195305.3(BBIP1):c.235C>G (p.Gln79Glu)	BBIP1 (Q79E +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1054810	NM_001195305.3(BBIP1):c.233G>A (p.Arg78His)	BBIP1 (R53H +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 18 +1 more	GUncertain significance
Select item 1662679	NM_001195305.3(BBIP1):c.222G>A (p.Gln74=)	BBIP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2113277	NM_001195305.3(BBIP1):c.218C>T (p.Ala73Val)	BBIP1 (A48V +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1477008	NM_001195305.3(BBIP1):c.217G>A (p.Ala73Thr)	BBIP1 (A51T +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2130174	NM_001195305.3(BBIP1):c.216del (p.Ala73fs)	BBIP1 (A51fs +2 more)	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1571511	NM_001195305.3(BBIP1):c.213A>G (p.Gln71=)	BBIP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1052887	NM_001195305.3(BBIP1):c.205dup (p.Met69fs)	BBIP1 (M44fs +2 more)	Duplication (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 837789	NM_001195305.3(BBIP1):c.199G>C (p.Glu67Gln)	BBIP1 (E42Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2096791	NM_001195305.3(BBIP1):c.195del (p.Lys65fs)	BBIP1 (K40fs +2 more)	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2439472	NM_001195305.3(BBIP1):c.187_188del (p.Leu63fs)	BBIP1 (L38fs +2 more)	Microsatellite (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 18	GUncertain significance
Select item 1023234	NM_001195305.3(BBIP1):c.184A>C (p.Thr62Pro)	BBIP1 (T37P +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1359312	NM_001195305.3(BBIP1):c.181C>G (p.Leu61Val)	BBIP1 (L61V +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2844432	NM_001195305.3(BBIP1):c.177dup (p.Ser60fs)	BBIP1 (S60fs +2 more)	Duplication (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 838666	NM_001195305.3(BBIP1):c.178T>C (p.Ser60Pro)	BBIP1 (S35P +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 949986	NM_001195305.3(BBIP1):c.177A>T (p.Lys59Asn)	BBIP1 (K37N +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1359437	NM_001195305.3(BBIP1):c.175A>C (p.Lys59Gln)	BBIP1 (K37Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 18 +1 more	GUncertain significance
Select item 1574563	NM_001195305.3(BBIP1):c.174A>G (p.Leu58=)	BBIP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 126379	NM_001195305.3(BBIP1):c.173T>G (p.Leu58Ter)	BBIP1 (L58* +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 18	GPathogenic
Select item 1149900	NM_001195305.3(BBIP1):c.168A>G (p.Leu56=)	BBIP1	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 18 +1 more	GLikely benign
Select item 2797109	NM_001195305.3(BBIP1):c.160A>C (p.Lys54Gln)	BBIP1 (K32Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1967763	NM_001195305.3(BBIP1):c.158C>A (p.Pro53His)	BBIP1 (P31H +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1108105	NM_001195305.3(BBIP1):c.153T>C (p.Cys51=)	BBIP1	Single nucleotide variant (stop lost +1 more)	not provided	GLikely benign
Select item 933603	NM_001195305.3(BBIP1):c.148_150dup (p.Leu50dup)	BBIP1	Duplication (inframe_insertion)	Bardet-Biedl syndrome 18 +1 more	GUncertain significance
Select item 1158943	NM_001195305.3(BBIP1):c.150G>A (p.Leu50=)	BBIP1 (V103M)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 18 +1 more	GLikely benign
Select item 1501977	NM_001195305.3(BBIP1):c.142A>G (p.Met48Val)	BBIP1 (M26V +3 more)	Single nucleotide variant (missense variant)	BBIP1-related disorder +3 more	GUncertain significance
Select item 1946342	NM_001195305.3(BBIP1):c.135_137del (p.Ile45del)	BBIP1 (I45del +3 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 935918	NM_001195305.3(BBIP1):c.137T>C (p.Met46Thr)	BBIP1 (M24T +2 more)	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 18 +1 more	GConflicting classifications of pathogenicity
Select item 862855	NM_001195305.3(BBIP1):c.134T>C (p.Ile45Thr)	BBIP1 (I45T +2 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 591780	NM_001195305.3(BBIP1):c.134T>A (p.Ile45Lys)	BBIP1 (I45K +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1113438	NM_001195305.3(BBIP1):c.127G>A (p.Glu43Lys)	BBIP1 (E18K +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1009393	NM_001195305.3(BBIP1):c.124G>T (p.Val42Leu)	BBIP1 (C94F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 965990	NM_001195305.3(BBIP1):c.116C>T (p.Pro39Leu)	BBIP1 (P14L +2 more)	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 18 +1 more	GUncertain significance
Select item 1652807	NM_001195305.3(BBIP1):c.113-5C>T	BBIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599280	NM_001195305.3(BBIP1):c.113-11G>A	BBIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2640833	NM_001195305.3(BBIP1):c.112+291G>A	BBIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3358645	NM_001195305.3(BBIP1):c.112+9A>G	BBIP1	Single nucleotide variant (intron variant)	BBIP1-related disorder	GLikely benign
Select item 3351110	NM_001195305.3(BBIP1):c.112+5G>C	BBIP1	Single nucleotide variant (intron variant)	BBIP1-related disorder	GLikely benign
Select item 3011069	NM_001195305.3(BBIP1):c.112+2T>A	BBIP1	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 1058394	NM_001195305.3(BBIP1):c.112+1G>T	BBIP1	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 2028227	NM_001195305.3(BBIP1):c.112G>A (p.Gly38Arg)	BBIP1 (G16R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3065828	NM_001195305.3(BBIP1):c.110A>G (p.Gln37Arg)	BBIP1 (Q15R +1 more)	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome 18	GUncertain significance
Select item 626905	NM_001195305.3(BBIP1):c.109C>T (p.Gln37Ter)	BBIP1 (A89V +2 more)	Single nucleotide variant (missense variant +2 more)	Hypogonadotropic hypogonadism 7 with or without anosmia +9 more	GPathogenic
Select item 1105634	NM_001195305.3(BBIP1):c.92G>A (p.Arg31Gln)	BBIP1 (R31Q +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 967190	NM_001195305.3(BBIP1):c.91dup (p.Arg31fs)	BBIP1 (R9fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1352190	NM_001195305.3(BBIP1):c.91C>T (p.Arg31Trp)	BBIP1 (R9W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1513559	NM_001195305.3(BBIP1):c.85A>G (p.Met29Val)	BBIP1 (M7V +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 18 +1 more	GUncertain significance
Select item 3133132	NM_001195305.3(BBIP1):c.75A>C (p.Glu25Asp)	BBIP1 (E25D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3357115	NM_001195305.3(BBIP1):c.68T>C (p.Met23Thr)	BBIP1 (M1T +1 more)	Single nucleotide variant (synonymous variant +3 more)	BBIP1-related disorder	GUncertain significance
Select item 1976139	NM_001195305.3(BBIP1):c.51_52dup (p.Ser18fs)	BBIP1 (Q71fs +1 more)	Microsatellite (frameshift variant +2 more)	not provided	GUncertain significance
Select item 3356100	NM_001195305.3(BBIP1):c.51_52del (p.Ser18fs)	BBIP1 (I70fs +1 more)	Microsatellite (frameshift variant +2 more)	BBIP1-related disorder	GUncertain significance
Select item 3356811	NM_001195305.3(BBIP1):c.50T>C (p.Ile17Thr)	BBIP1 (I17T)	Single nucleotide variant (synonymous variant +3 more)	BBIP1-related disorder	GUncertain significance
Select item 968181	NM_001195305.3(BBIP1):c.50T>A (p.Ile17Lys)	BBIP1 (I17K +1 more)	Single nucleotide variant (nonsense +3 more)	not provided +1 more	GUncertain significance
Select item 939645	NM_001195305.3(BBIP1):c.46A>T (p.Thr16Ser)	BBIP1 (T16S +1 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 18 +2 more	GUncertain significance
Select item 1000039	NM_001195305.3(BBIP1):c.45C>G (p.Asn15Lys)	BBIP1 (H68D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 942236	NM_001195305.3(BBIP1):c.44del (p.Asn15fs)	BBIP1 (N15fs +1 more)	Deletion (frameshift variant +2 more)	BBIP1-related disorder +1 more	GUncertain significance
Select item 917917	NM_001195305.3(BBIP1):c.38-6T>C	BBIP1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2123663	NM_001195305.3(BBIP1):c.38-13T>C	BBIP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2853058	NM_001195305.3(BBIP1):c.38-15G>C	BBIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1544794	NM_001195305.3(BBIP1):c.38-20A>C	BBIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3048779	NM_001195305.3(BBIP1):c.38-6060_38-6057del	BBIP1	Deletion (intron variant)	BBIP1-related disorder	GLikely benign
Select item 3354661	NM_001195305.3(BBIP1):c.38-6070G>T	BBIP1	Single nucleotide variant (synonymous variant +1 more)	BBIP1-related disorder	GLikely benign
Select item 2636828	NM_001195305.3(BBIP1):c.38-6071C>T	BBIP1 (A64V)	Single nucleotide variant (missense variant +1 more)	BBIP1-related disorder	GUncertain significance
Select item 548535	NM_001195305.3(BBIP1):c.38-6071C>G	BBIP1 (A64G)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 18	GUncertain significance
Select item 3043913	NM_001195305.3(BBIP1):c.38-6085G>A	BBIP1	Single nucleotide variant (synonymous variant +1 more)	BBIP1-related disorder	GLikely benign
Select item 3357973	NM_001195305.3(BBIP1):c.38-6091C>T	BBIP1	Single nucleotide variant (synonymous variant +1 more)	BBIP1-related disorder	GLikely benign
Select item 2632308	NM_001195305.3(BBIP1):c.38-6137C>T	BBIP1 (S42F)	Single nucleotide variant (missense variant +1 more)	BBIP1-related disorder	GUncertain significance
Select item 2634100	NM_001195305.3(BBIP1):c.38-6145A>G	BBIP1	Single nucleotide variant (synonymous variant +1 more)	BBIP1-related disorder	GLikely benign
Select item 3030127	NM_001195305.3(BBIP1):c.38-6160G>A	BBIP1	Single nucleotide variant (synonymous variant +1 more)	BBIP1-related disorder	GLikely benign
Select item 3350663	NM_001195305.3(BBIP1):c.38-6161C>T	BBIP1 (T34M)	Single nucleotide variant (missense variant +1 more)	BBIP1-related disorder	GUncertain significance
Select item 3033004	NM_001195305.3(BBIP1):c.38-6162A>G	BBIP1 (T34A)	Single nucleotide variant (missense variant +1 more)	BBIP1-related disorder	GUncertain significance
Select item 3345788	NM_001195305.3(BBIP1):c.38-6194T>C	BBIP1 (L23S)	Single nucleotide variant (missense variant +1 more)	BBIP1-related disorder	GUncertain significance
Select item 3346870	NM_001195305.3(BBIP1):c.38-6202T>C	BBIP1	Single nucleotide variant (synonymous variant +1 more)	BBIP1-related disorder	GUncertain significance
Select item 3350964	NM_001195305.3(BBIP1):c.38-6223G>A	BBIP1	Single nucleotide variant (synonymous variant +1 more)	BBIP1-related disorder	GLikely benign
Select item 1959149	NM_001195305.3(BBIP1):c.37+10A>G	BBIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654468	NM_001195305.3(BBIP1):c.37+9G>C	BBIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1167132	NM_001195305.3(BBIP1):c.37+3dup	BBIP1	Duplication (intron variant)	not provided	GBenign
Select item 951609	NM_001195305.3(BBIP1):c.37+3A>T	BBIP1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 18 +1 more	GUncertain significance
Select item 1360445	NM_001195305.3(BBIP1):c.26C>T (p.Pro9Leu)	BBIP1 (P9L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3000875	NM_001195305.3(BBIP1):c.17C>A (p.Ala6Glu)	BBIP1 (A6E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1053366	NM_001195305.3(BBIP1):c.6_7dup (p.Lys3fs)	BBIP1 (K3fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1615115	NM_001195305.3(BBIP1):c.6T>G (p.Leu2=)	BBIP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3351660	NM_001195305.3(BBIP1):c.-4T>C	BBIP1	Single nucleotide variant (5 prime UTR variant +1 more)	BBIP1-related disorder	GLikely benign

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