582[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	LOC130006222, LOC130006223 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	LOC130006168, LOC130006169 +212 more	Copy number gain	See cases	GPathogenic
Select item 431734	GRCh38/hg38 11q13.2(chr11:66507369-66525103)	ZDHHC24, LOC130006125 +2 more	Copy number loss	Bardet-Biedl syndrome	GLikely pathogenic
Select item 1224833	NC_000011.10:g.66510498C>T	BBS1, LOC130006125	Single nucleotide variant	not provided	GBenign
Select item 1180586	NM_024649.5(BBS1):c.-72C>G	BBS1	Single nucleotide variant	not provided +1 more	GBenign
Select item 21708	NM_024649.5(BBS1):c.-3_37del (p.Met1fs)	BBS1 (M1fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 990060	NM_024649.5(BBS1):c.-3A>G	BBS1	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 1 +2 more	GUncertain significance
Select item 1457144	NM_024649.5(BBS1):c.1A>G (p.Met1Val)	BBS1 (M1V)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	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 1986958	NM_024649.5(BBS1):c.2T>C (p.Met1Thr)	BBS1 (M1T)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2057607	NM_024649.5(BBS1):c.3G>A (p.Met1Ile)	BBS1 (M1I)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2131823	NM_024649.5(BBS1):c.6C>G (p.Ala2=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1098002	NM_024649.5(BBS1):c.6C>A (p.Ala2=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 305456	NM_024649.5(BBS1):c.6C>T (p.Ala2=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2067846	NM_024649.5(BBS1):c.7G>T (p.Ala3Ser)	BBS1 (A3S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1379070	NM_024649.5(BBS1):c.10G>T (p.Ala4Ser)	BBS1 (A4S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1083845	NM_024649.5(BBS1):c.12G>A (p.Ala4=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2164241	NM_024649.5(BBS1):c.14C>T (p.Ser5Phe)	BBS1 (S5F)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
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 2840298	NM_024649.5(BBS1):c.18A>C (p.Ser6=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1628110	NM_024649.5(BBS1):c.18A>T (p.Ser6=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1128755	NM_024649.5(BBS1):c.18A>G (p.Ser6=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2857633	NM_024649.5(BBS1):c.21G>C (p.Ser7=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2800981	NM_024649.5(BBS1):c.21G>A (p.Ser7=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1559824	NM_024649.5(BBS1):c.21G>T (p.Ser7=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 193457	NM_024649.5(BBS1):c.24T>C (p.Asp8=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 1128026	NM_024649.5(BBS1):c.27C>T (p.Ser9=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2809257	NM_024649.5(BBS1):c.30C>T (p.Asp10=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1356253	NM_024649.5(BBS1):c.32C>T (p.Ala11Val)	BBS1 (A11V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1079008	NM_024649.5(BBS1):c.33C>A (p.Ala11=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2141637	NM_024649.5(BBS1):c.35G>A (p.Cys12Tyr)	BBS1 (C12Y)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 798358	NM_024649.5(BBS1):c.36C>T (p.Cys12=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2998575	NM_024649.5(BBS1):c.41C>T (p.Ala14Val)	BBS1 (A14V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 493094	NM_024649.5(BBS1):c.41C>G (p.Ala14Gly)	BBS1 (A14G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 1445800	NM_024649.5(BBS1):c.43G>A (p.Glu15Lys)	BBS1 (E15K)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 2679956	NM_024649.5(BBS1):c.46dup (p.Ser16fs)	BBS1 (S16fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 1558671	NM_024649.5(BBS1):c.45G>A (p.Glu15=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 625444	NM_024649.5(BBS1):c.46A>T (p.Ser16Cys)	BBS1 (S16C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GLikely pathogenic
Select item 1324292	NM_024649.5(BBS1):c.47+1G>T	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 1 +1 more	GPathogenic
Select item 2679961	NM_024649.5(BBS1):c.47+2T>G	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 1	GLikely 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 2198042	NM_024649.5(BBS1):c.47+7G>A	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2147846	NM_024649.5(BBS1):c.47+7G>T	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1155873	NM_024649.5(BBS1):c.47+7G>C	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2691644	NM_024649.5(BBS1):c.47+8C>T	BBS1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2123375	NM_024649.5(BBS1):c.47+9A>C	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1967194	NM_024649.5(BBS1):c.47+9A>G	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1161586	NM_024649.5(BBS1):c.47+9A>T	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2034020	NM_024649.5(BBS1):c.47+12G>A	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2743624	NM_024649.5(BBS1):c.47+15C>A	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2783352	NM_024649.5(BBS1):c.47+16C>T	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1588174	NM_024649.5(BBS1):c.47+19A>G	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3001731	NM_024649.5(BBS1):c.47+20A>G	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2963893	NM_024649.5(BBS1):c.47+20A>C	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2856820	NM_024649.5(BBS1):c.48-18T>C	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2837275	NM_024649.5(BBS1):c.48-14dup	BBS1	Duplication (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2831010	NM_024649.5(BBS1):c.48-13C>A	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1133710	NM_024649.5(BBS1):c.48-11C>T	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2133377	NM_024649.5(BBS1):c.48-10C>T	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3015290	NM_024649.5(BBS1):c.48-9C>G	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1096856	NM_024649.5(BBS1):c.48-9C>T	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 290984	NM_024649.5(BBS1):c.48-9C>A	BBS1	Single nucleotide variant (intron variant)	BBS1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1549734	NM_024649.5(BBS1):c.48-8A>G	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1091131	NM_024649.5(BBS1):c.48-7C>T	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1644643	NM_024649.5(BBS1):c.48-4C>G	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 217432	NM_024649.5(BBS1):c.48-3C>G	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 1	GPathogenic
Select item 2742804	NM_024649.5(BBS1):c.48-2A>G	BBS1	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome	GPathogenic
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 1299580	NM_024649.5(BBS1):c.48-1G>A	BBS1	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome +1 more	GPathogenic
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 1024035	NM_024649.5(BBS1):c.48C>T (p.Ser16=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1096069	NM_024649.5(BBS1):c.51T>C (p.Asn17=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 531837	NM_024649.5(BBS1):c.54G>A (p.Glu18=)	BBS1	Single nucleotide variant (synonymous variant)	BBS1-related disorder +2 more	GLikely benign
Select item 745538	NM_024649.5(BBS1):c.57C>G (p.Ala19=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1984600	NM_024649.5(BBS1):c.59A>G (p.Asn20Ser)	BBS1 (N20S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1608632	NM_024649.5(BBS1):c.63G>A (p.Ser21=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2817062	NM_024649.5(BBS1):c.66G>A (p.Lys22=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2679951	NM_024649.5(BBS1):c.70_73del (p.Leu24fs)	BBS1 (L24fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 842654	NM_024649.5(BBS1):c.68G>A (p.Trp23Ter)	BBS1 (W23*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 943343	NM_024649.5(BBS1):c.71dup (p.Leu24fs)	BBS1 (L24fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 1121516	NM_024649.5(BBS1):c.70T>C (p.Leu24=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 983830	NM_024649.5(BBS1):c.71T>A (p.Leu24Ter)	BBS1 (L24*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 3028230	NM_024649.5(BBS1):c.75T>A (p.Asp25Glu)	BBS1 (D25E)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 2751693	NM_024649.5(BBS1):c.75T>C (p.Asp25=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 817988	NM_024649.5(BBS1):c.76del (p.Ala26fs)	BBS1 (A26fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 972671	NM_024649.5(BBS1):c.77C>T (p.Ala26Val)	BBS1 (A26V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1 +1 more	GUncertain significance
Select item 1494215	NM_024649.5(BBS1):c.83A>G (p.Tyr28Cys)	BBS1 (Y28C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1121309	NM_024649.5(BBS1):c.84C>T (p.Tyr28=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1359126	NM_024649.5(BBS1):c.88C>A (p.Pro30Thr)	BBS1 (P30T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 2197433	NM_024649.5(BBS1):c.93G>C (p.Met31Ile)	BBS1 (M31I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1116840	NM_024649.5(BBS1):c.96C>T (p.Ala32=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2763941	NM_024649.5(BBS1):c.103dup (p.His35fs)	BBS1 (H35fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 1625124	NM_024649.5(BBS1):c.102C>A (p.Ile34=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1129086	NM_024649.5(BBS1):c.102C>T (p.Ile34=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1432163	NM_024649.5(BBS1):c.104A>G (p.His35Arg)	BBS1 (H35R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2983778	NM_024649.5(BBS1):c.105C>T (p.His35=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2725895	NM_024649.5(BBS1):c.111T>C (p.Phe37=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 802688	NM_024649.5(BBS1):c.118del (p.Cys40fs)	BBS1 (C40fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 1099264	NM_024649.5(BBS1):c.120C>T (p.Cys40=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign

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