585[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 57140	GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1	ADPGK, ADPGK-AS1 +196 more	Copy number loss	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 58078	GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3	ADPGK, ADPGK-AS1 +204 more	Copy number gain	See cases	GPathogenic
Select item 545182	Single allele	LOC130057525, LOC130057526 +205 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 154681	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1	LOC130057584, LOC130057585 +202 more	Copy number loss	See cases	GPathogenic
Select item 148272	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1	ADPGK, ADPGK-AS1 +195 more	Copy number loss	See cases	GLikely pathogenic
Select item 57428	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	ADPGK, ADPGK-AS1 +236 more	Copy number loss	See cases	GPathogenic
Select item 153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	LOC130057567, LOC130057568 +243 more	Copy number loss	See cases	GPathogenic
Select item 317056	NM_033028.4(BBS4):c.-44G>C	BBS4	Single nucleotide variant	Bardet-Biedl syndrome 4	GUncertain significance
Select item 262133	NM_033028.4(BBS4):c.-38C>A	BBS4	Single nucleotide variant	Bardet-Biedl syndrome 4 +1 more	GBenign
Select item 193472	NM_033028.5(BBS4):c.-17C>T	BBS4	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 21731	NM_033028.5(BBS4):c.-17C>A	BBS4	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome	GBenign
Select item 317057	NM_033028.5(BBS4):c.-14T>A	BBS4	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 4	GUncertain significance
Select item 462943	NC_000015.10:g.(?_72686218)_(72686261_?)del	BBS4	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 21733	NM_033028.5(BBS4):c.-6G>A	BBS4	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome	GBenign
Select item 595052	NM_033028.5(BBS4):c.-3A>G	BBS4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 886465	NM_033028.5(BBS4):c.1A>G (p.Met1Val)	BBS4 (M1V)	Single nucleotide variant (5 prime UTR variant +3 more)	Bardet-Biedl syndrome	GPathogenic/Likely pathogenic
Select item 445809	NM_033028.5(BBS4):c.2T>C (p.Met1Thr)	BBS4 (M1T)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1375048	NM_033028.5(BBS4):c.5C>T (p.Ala2Val)	BBS4 (A2V)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2839446	NM_033028.5(BBS4):c.6T>G (p.Ala2=)	BBS4	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1128198	NM_033028.5(BBS4):c.6T>A (p.Ala2=)	BBS4	Single nucleotide variant (5 prime UTR variant +2 more)	BBS4-related condition +1 more	GLikely benign
Select item 21741	NM_033028.5(BBS4):c.8A>C (p.Glu3Ala)	BBS4 (E3A)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GBenign
Select item 2916566	NM_033028.5(BBS4):c.9G>A (p.Glu3=)	BBS4	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2197130	NM_033028.5(BBS4):c.10G>T (p.Glu4Ter)	BBS4 (E4*)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 2012196	NM_033028.5(BBS4):c.10G>C (p.Glu4Gln)	BBS4 (E4Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1377984	NM_033028.5(BBS4):c.10G>A (p.Glu4Lys)	BBS4 (E4K)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 262138	NM_033028.5(BBS4):c.12G>A (p.Glu4=)	BBS4	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1426835	NM_033028.5(BBS4):c.14G>C (p.Arg5Thr)	BBS4 (R5T)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2118470	NM_033028.5(BBS4):c.16G>A (p.Val6Ile)	BBS4 (V6I)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 21736	NM_033028.5(BBS4):c.17T>C (p.Val6Ala)	BBS4 (V6A)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GBenign
Select item 2955906	NM_033028.5(BBS4):c.18C>A (p.Val6=)	BBS4	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 21737	NM_033028.5(BBS4):c.18C>T (p.Val6=)	BBS4	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GBenign
Select item 1474887	NM_033028.5(BBS4):c.19G>A (p.Ala7Thr)	BBS4 (A7T)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1064306	NM_033028.5(BBS4):c.19G>C (p.Ala7Pro)	BBS4 (A7P)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2073836	NM_033028.5(BBS4):c.20C>G (p.Ala7Gly)	BBS4 (A7G)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 21738	NM_033028.5(BBS4):c.20C>T (p.Ala7Val)	BBS4 (A7V)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GBenign
Select item 1364123	NM_033028.5(BBS4):c.23C>T (p.Thr8Met)	BBS4 (T8M)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1504738	NM_033028.5(BBS4):c.24+1G>A	BBS4	Single nucleotide variant (splice donor variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely pathogenic
Select item 1067554	NM_033028.5(BBS4):c.24+1G>T	BBS4	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome 4 +1 more	GLikely pathogenic
Select item 2849475	NM_033028.5(BBS4):c.24+2T>G	BBS4	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome	GLikely pathogenic
Select item 1046533	NM_033028.5(BBS4):c.24+6C>T	BBS4	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1082208	NM_033028.5(BBS4):c.24+7G>A	BBS4	Single nucleotide variant (non-coding transcript variant +1 more)	BBS4-related condition +1 more	GLikely benign
Select item 2721647	NM_033028.5(BBS4):c.24+8C>A	BBS4	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 193471	NM_033028.5(BBS4):c.24+8C>T	BBS4	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2896963	NM_033028.5(BBS4):c.24+9C>T	BBS4	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome	GBenign
Select item 2854912	NM_033028.5(BBS4):c.24+11A>T	BBS4	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2767576	NM_033028.5(BBS4):c.24+18_24+19del	BBS4	Microsatellite (non-coding transcript variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2719674	NM_033028.5(BBS4):c.24+16C>T	BBS4	Single nucleotide variant (intron variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1636142	NM_033028.5(BBS4):c.24+16C>G	BBS4	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2725235	NM_033028.5(BBS4):c.24+17T>C	BBS4	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3004271	NM_033028.5(BBS4):c.24+18C>T	BBS4	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1153126	NM_033028.5(BBS4):c.24+18C>G	BBS4	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1614921	NM_033028.5(BBS4):c.25-18C>T	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2969169	NM_033028.5(BBS4):c.25-16A>G	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 21739	NM_033028.5(BBS4):c.28dup (p.Thr10fs)	BBS4 (T10fs)	Duplication (frameshift variant +2 more)	Bardet-Biedl syndrome	GBenign
Select item 2680053	NM_033028.5(BBS4):c.31C>T (p.Gln11Ter)	BBS4 (Q11*)	Single nucleotide variant (nonsense +2 more)	Bardet-Biedl syndrome 4 +1 more	GPathogenic
Select item 1383876	NM_033028.5(BBS4):c.31C>G (p.Gln11Glu)	BBS4 (Q11E)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 317058	NM_033028.5(BBS4):c.37C>T (p.Pro13Ser)	BBS4 (P13S)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1134107	NM_033028.5(BBS4):c.39T>G (p.Pro13=)	BBS4	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 21740	NM_033028.5(BBS4):c.42A>G (p.Val14=)	BBS4	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2985030	NM_033028.5(BBS4):c.48T>G (p.Thr16=)	BBS4	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2865153	NM_033028.5(BBS4):c.48T>A (p.Thr16=)	BBS4	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2680040	NM_033028.5(BBS4):c.55C>T (p.Gln19Ter)	BBS4 (Q19*)	Single nucleotide variant (nonsense +2 more)	Bardet-Biedl syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 2816733	NM_033028.5(BBS4):c.57A>G (p.Gln19=)	BBS4	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1036987	NM_033028.5(BBS4):c.61C>T (p.Pro21Ser)	BBS4 (P21S)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 79889	NM_033028.5(BBS4):c.63C>T (p.Pro21=)	BBS4	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 166732	NM_033028.5(BBS4):c.64C>T (p.Arg22Trp)	BBS4 (R22W)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 1017314	NM_033028.5(BBS4):c.65G>A (p.Arg22Gln)	BBS4 (R22Q)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 2833126	NM_033028.5(BBS4):c.66G>A (p.Arg22=)	BBS4	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1964049	NM_033028.5(BBS4):c.67C>T (p.Gln23Ter)	BBS4 (Q23*)	Single nucleotide variant (nonsense +2 more)	Bardet-Biedl syndrome	GPathogenic
Select item 634524	NM_033028.5(BBS4):c.75dup (p.Ala26fs)	BBS4 (A26fs)	Duplication (frameshift variant +2 more)	Bardet-Biedl syndrome 4	GUncertain significance
Select item 585186	NM_033028.5(BBS4):c.76+1G>T	BBS4	Single nucleotide variant (splice donor variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2058675	NM_033028.5(BBS4):c.76+2T>C	BBS4	Single nucleotide variant (splice donor variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2439477	NM_033028.5(BBS4):c.76+3del	BBS4	Deletion (intron variant)	Bardet-Biedl syndrome 4	GUncertain significance
Select item 1603535	NM_033028.5(BBS4):c.76+7A>G	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2082788	NM_033028.5(BBS4):c.76+10C>T	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3015356	NM_033028.5(BBS4):c.76+16C>T	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2791320	NM_033028.5(BBS4):c.76+17A>G	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1509663	NM_033028.5(BBS4):c.76+18dup	BBS4	Duplication (intron variant)	Bardet-Biedl syndrome 4 +1 more	GLikely benign
Select item 2835817	NM_033028.5(BBS4):c.76+19G>C	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 166733	NM_033028.5(BBS4):c.76+19G>T	BBS4	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 431741	GRCh38/hg38 15q24.1(chr15:72708224-72714485)	BBS4	Copy number loss	Bardet-Biedl syndrome	GLikely pathogenic
Select item 9146	NM_033028.5(BBS4):c.77-216del	BBS4	Deletion (intron variant)	Bardet-Biedl syndrome 4 +1 more	GPathogenic
Select item 3051767	NM_033028.5(BBS4):c.77-210_77-209del	BBS4	Deletion (intron variant)	BBS4-related condition	GLikely benign
Select item 657391	NC_000015.10:g.(?_72709680)_(72712327_?)del	BBS4	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 1664936	NM_033028.5(BBS4):c.77-17C>T	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 262143	NM_033028.5(BBS4):c.77-6G>A	BBS4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2418186	NM_033028.5(BBS4):c.77-4C>T	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1383213	NM_033028.5(BBS4):c.77C>T (p.Ala26Val)	BBS4 (A26V)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1645867	NM_033028.5(BBS4):c.78T>A (p.Ala26=)	BBS4	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 943355	NM_033028.5(BBS4):c.80C>T (p.Pro27Leu)	BBS4 (P27L)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 2733072	NM_033028.5(BBS4):c.84G>A (p.Glu28=)	BBS4	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2680049	NM_033028.5(BBS4):c.87del (p.Pro30fs)	BBS4 (P30fs)	Deletion (frameshift variant +2 more)	Bardet-Biedl syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 1715847	NM_033028.5(BBS4):c.85T>G (p.Phe29Val)	BBS4 (F29V)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 21742	NM_033028.5(BBS4):c.91A>G (p.Ile31Val)	BBS4 (I31V)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GBenign
Select item 1634064	NM_033028.5(BBS4):c.94T>C (p.Leu32=)	BBS4	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2680047	NM_033028.5(BBS4):c.95T>A (p.Leu32Ter)	BBS4 (L32*)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 4	GLikely pathogenic
Select item 2696256	NM_033028.5(BBS4):c.99G>A (p.Glu33=)	BBS4	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GLikely benign

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