LOC129935068[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 150637	GRCh38/hg38 2q24.3-31.1(chr2:168884350-169959279)x1	ABCB11, BBS5 +33 more	Copy number loss	See cases	GUncertain significance
Select item 147950	GRCh38/hg38 2q31.1(chr2:169206895-170039471)x1	CFAP210, BBS5 +28 more	Copy number loss	See cases	GUncertain significance
Select item 2443002	NC_000002.12:g.169477282_169483199del	BBS5, LOC129935067 +1 more	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 262633	NM_152384.3(BBS5):c.-40G>C	BBS5, LOC129935068	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 3355682	NM_152384.3(BBS5):c.-9T>C	BBS5, LOC129935068	Single nucleotide variant (5 prime UTR variant)	BBS5-related disorder	GLikely benign
Select item 1338227	NM_152384.3(BBS5):c.-2C>A	BBS5, LOC129935068	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3014382	NM_152384.3(BBS5):c.1A>T (p.Met1Leu)	BBS5, LOC129935068 (M1L)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 5 +1 more	GPathogenic/Likely pathogenic
Select item 1679817	NM_152384.3(BBS5):c.1A>G (p.Met1Val)	BBS5, LOC129935068 (M1V)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 5	GPathogenic
Select item 2163400	NM_152384.3(BBS5):c.5_8dup (p.Leu4fs)	BBS5, LOC129935068 (L4fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 812118	NM_152384.3(BBS5):c.2T>A (p.Met1Lys)	BBS5, LOC129935068 (M1K)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 5	GPathogenic
Select item 2796173	NM_152384.3(BBS5):c.6G>A (p.Ser2=)	BBS5, LOC129935068	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2707148	NM_152384.3(BBS5):c.6G>C (p.Ser2=)	BBS5, LOC129935068	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3358338	NM_152384.3(BBS5):c.16G>T (p.Ala6Ser)	BBS5, LOC129935068 (A6S)	Single nucleotide variant (missense variant)	BBS5-related disorder	GUncertain significance
Select item 2088237	NM_152384.3(BBS5):c.17C>A (p.Ala6Glu)	BBS5, LOC129935068 (A6E)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1513237	NM_152384.3(BBS5):c.17C>T (p.Ala6Val)	BBS5, LOC129935068 (A6V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2830735	NM_152384.3(BBS5):c.18G>T (p.Ala6=)	BBS5, LOC129935068	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 772253	NM_152384.3(BBS5):c.18G>C (p.Ala6=)	BBS5, LOC129935068	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2011107	NM_152384.3(BBS5):c.24G>C (p.Trp8Cys)	BBS5, LOC129935068 (W8C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1071235	NM_152384.3(BBS5):c.24G>A (p.Trp8Ter)	BBS5, LOC129935068 (W8*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome	GPathogenic
Select item 1307388	NM_152384.3(BBS5):c.25G>A (p.Glu9Lys)	BBS5, LOC129935068 (E9K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 958031	NM_152384.3(BBS5):c.25G>C (p.Glu9Gln)	BBS5, LOC129935068 (E9Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2319469	NM_152384.3(BBS5):c.27G>T (p.Glu9Asp)	BBS5, LOC129935068 (E9D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 846352	NM_152384.3(BBS5):c.32G>A (p.Arg11Gln)	BBS5, LOC129935068 (R11Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +4 more	GUncertain significance
Select item 1997557	NM_152384.3(BBS5):c.34G>A (p.Asp12Asn)	BBS5, LOC129935068 (D12N)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 262636	NM_152384.3(BBS5):c.39C>G (p.Val13=)	BBS5, LOC129935068	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2882794	NM_152384.3(BBS5):c.45C>T (p.Phe15=)	BBS5, LOC129935068	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2428420	NM_152384.3(BBS5):c.47A>T (p.Asp16Val)	BBS5, LOC129935068 (D16V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2883010	NM_152384.3(BBS5):c.54dup (p.Ala19fs)	BBS5, LOC129935068 (A19fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2916877	NM_152384.3(BBS5):c.54C>G (p.Ser18=)	BBS5, LOC129935068	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2783980	NM_152384.3(BBS5):c.54C>A (p.Ser18=)	BBS5, LOC129935068	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1118946	NM_152384.3(BBS5):c.57G>T (p.Ala19=)	BBS5, LOC129935068	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2726311	NM_152384.3(BBS5):c.58C>T (p.Gln20Ter)	BBS5, LOC129935068 (Q20*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome	GPathogenic
Select item 2021586	NM_152384.3(BBS5):c.59+5G>T	BBS5, LOC129935068	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely pathogenic
Select item 1482234	NM_152384.3(BBS5):c.59+5G>A	BBS5, LOC129935068	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 5 +1 more	GUncertain significance
Select item 2881702	NM_152384.3(BBS5):c.59+12A>G	BBS5, LOC129935068	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3004989	NM_152384.3(BBS5):c.59+13del	BBS5, LOC129935068	Deletion (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2911484	NM_152384.3(BBS5):c.59+13G>T	BBS5, LOC129935068	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2918496	NM_152384.3(BBS5):c.59+19C>A	BBS5, LOC129935068	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign

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Items: 42