970[HGNC] - ClinVar - NCBI

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	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
Select item 1272318	NM_152384.3(BBS5):c.59+164G>A	BBS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232614	NM_152384.3(BBS5):c.60-176dup	BBS5	Duplication (intron variant)	not provided	GBenign
Select item 2781702	NM_152384.3(BBS5):c.60-19A>T	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1647457	NM_152384.3(BBS5):c.60-19A>G	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2965581	NM_152384.3(BBS5):c.60-17C>T	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2754235	NM_152384.3(BBS5):c.60-14T>C	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1994786	NM_152384.3(BBS5):c.60-11A>G	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1016849	NM_152384.3(BBS5):c.60-10T>G	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 2998030	NM_152384.3(BBS5):c.60-9T>G	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2871932	NM_152384.3(BBS5):c.60-7A>T	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 695794	NM_152384.3(BBS5):c.60-3T>C	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 5 +1 more	GLikely benign
Select item 2884185	NM_152384.3(BBS5):c.60-2A>C	BBS5	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome	GLikely pathogenic
Select item 1804859	NM_152384.3(BBS5):c.82G>T (p.Glu28Ter)	BBS5 (E28*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome	GLikely pathogenic
Select item 1941249	NM_152384.3(BBS5):c.88C>T (p.Leu30Phe)	BBS5 (L30F)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 858646	NM_152384.3(BBS5):c.92T>C (p.Ile31Thr)	BBS5 (I31T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 5 +2 more	GUncertain significance
Select item 1023244	NM_152384.3(BBS5):c.106T>A (p.Ser36Thr)	BBS5 (S36T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2858287	NM_152384.3(BBS5):c.108C>A (p.Ser36=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 262634	NM_152384.3(BBS5):c.108C>T (p.Ser36=)	BBS5	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1006894	NM_152384.3(BBS5):c.110T>C (p.Ile37Thr)	BBS5 (I37T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 3260545	NM_152384.3(BBS5):c.116A>G (p.Asp39Gly)	BBS5 (D39G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2863129	NM_152384.3(BBS5):c.120C>A (p.Thr40=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 585187	NM_152384.3(BBS5):c.123del (p.Gly42fs)	BBS5 (G42fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 1023055	NM_152384.3(BBS5):c.133G>A (p.Gly45Arg)	BBS5 (G45R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2833109	NM_152384.3(BBS5):c.135A>G (p.Gly45=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1878589	NM_152384.3(BBS5):c.142+1del	BBS5	Deletion (splice donor variant)	Bardet-Biedl syndrome 5	GLikely pathogenic
Select item 1590068	NM_152384.3(BBS5):c.142+3_142+10dup	BBS5	Duplication (splice donor variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1067484	NM_152384.3(BBS5):c.142+1G>T	BBS5	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome	GLikely pathogenic
Select item 3348150	NM_152384.3(BBS5):c.142+3G>A	BBS5	Single nucleotide variant (intron variant)	BBS5-related disorder	GLikely benign
Select item 1479581	NM_152384.3(BBS5):c.142+3G>T	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1135551	NM_152384.3(BBS5):c.142+9A>G	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2136801	NM_152384.3(BBS5):c.142+19G>A	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1241727	NM_152384.3(BBS5):c.142+143C>A	BBS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240791	NM_152384.3(BBS5):c.142+160C>A	BBS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2843988	NM_152384.3(BBS5):c.143-19T>C	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2886081	NM_152384.3(BBS5):c.143-13TG[2]	BBS5	Microsatellite (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2778396	NM_152384.3(BBS5):c.143-12G>C	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1536808	NM_152384.3(BBS5):c.143-11T>C	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 772851	NM_152384.3(BBS5):c.143-10G>T	BBS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 772852	NM_152384.3(BBS5):c.143-7C>T	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3345820	NM_152384.3(BBS5):c.143-6_143-3delinsAAA	BBS5	Indel (intron variant)	BBS5-related disorder	GUncertain significance
Select item 3349053	NM_152384.3(BBS5):c.143-2A>G	BBS5	Single nucleotide variant (splice acceptor variant)	BBS5-related disorder	GLikely pathogenic
Select item 854552	NM_152384.3(BBS5):c.143-1G>A	BBS5	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome	GPathogenic
Select item 569727	NM_152384.3(BBS5):c.143-1G>C	BBS5	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3348230	NM_152384.3(BBS5):c.143G>A (p.Gly48Asp)	BBS5 (G48D)	Single nucleotide variant (missense variant)	BBS5-related disorder	GUncertain significance
Select item 1307386	NM_152384.3(BBS5):c.149T>C (p.Leu50Pro)	BBS5 (L50P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498300	NM_152384.3(BBS5):c.164T>C (p.Leu55Ser)	BBS5 (L55S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GPathogenic
Select item 585188	NM_152384.3(BBS5):c.166A>G (p.Arg56Gly)	BBS5 (R56G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3019841	NM_152384.3(BBS5):c.171T>C (p.Ile57=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1558050	NM_152384.3(BBS5):c.174C>G (p.Leu58=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 6160	NM_152384.3(BBS5):c.177G>A (p.Trp59Ter)	BBS5 (W59*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome	GPathogenic
Select item 2741538	NM_152384.3(BBS5):c.180C>T (p.His60=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 592011	NM_152384.3(BBS5):c.184_185del (p.Leu62fs)	BBS5 (L62fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1394006	NM_152384.3(BBS5):c.185T>C (p.Leu62Ser)	BBS5 (L62S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2857315	NM_152384.3(BBS5):c.189A>T (p.Ala63=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 698144	NM_152384.3(BBS5):c.190T>C (p.Leu64=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 5 +2 more	GBenign/Likely benign
Select item 3345910	NM_152384.3(BBS5):c.193T>C (p.Ser65Pro)	BBS5 (S65P)	Single nucleotide variant (missense variant)	BBS5-related disorder	GUncertain significance
Select item 3356218	NM_152384.3(BBS5):c.196A>G (p.Arg66Gly)	BBS5 (R66G)	Single nucleotide variant (missense variant)	BBS5-related disorder	GUncertain significance
Select item 1381795	NM_152384.3(BBS5):c.197G>A (p.Arg66Lys)	BBS5 (R66K)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance

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