Related gene-specific medical variations for Gene (Select 166379) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2680004	NM_152618.3(BBS12):c.1289dup (p.Arg431fs)	BBS12 (R431fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 2680003	NM_152618.3(BBS12):c.1654_1655dup (p.Leu553fs)	BBS12 (L553fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 2680002	NM_152618.3(BBS12):c.1145T>A (p.Leu382Ter)	BBS12 (L382*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 2680001	NM_152618.3(BBS12):c.1482_1485del (p.Gly496fs)	BBS12 (G496fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 2680000	NM_152618.3(BBS12):c.494C>G (p.Ser165Ter)	BBS12 (S165*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 2679999	NM_152618.3(BBS12):c.1537C>T (p.Gln513Ter)	BBS12 (Q513*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 2679998	NM_152618.3(BBS12):c.1073_1074del (p.Leu358fs)	BBS12 (L358fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 2679996	NM_152618.3(BBS12):c.1531C>T (p.Gln511Ter)	BBS12 (Q511*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 2679995	NM_152618.3(BBS12):c.1886_1887del (p.Ser629fs)	BBS12 (S629fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 2679994	NM_152618.3(BBS12):c.1910T>A (p.Leu637Ter)	BBS12 (L637*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 2679992	NM_152618.3(BBS12):c.1339G>T (p.Glu447Ter)	BBS12 (E447*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 2679991	NM_152618.3(BBS12):c.1560G>A (p.Trp520Ter)	BBS12 (W520*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 2679990	NM_152618.3(BBS12):c.948_952del (p.Phe316fs)	BBS12 (F316fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 2679989	NM_152618.3(BBS12):c.719_720del (p.Thr240fs)	BBS12 (T240fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 2498319	NM_152618.3(BBS12):c.223del (p.Gln75fs)	BBS12 (Q75fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2498315	NM_152618.3(BBS12):c.1918del (p.Tyr640fs)	BBS12 (Y640fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2498308	NM_152618.3(BBS12):c.1522_1523insGG (p.Val508fs)	BBS12 (V508fs)	Insertion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2498307	NM_152618.3(BBS12):c.95del (p.Pro32fs)	BBS12 (P32fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2498304	NM_152618.3(BBS12):c.1480dup (p.Thr494fs)	BBS12 (T494fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2498301	NM_152618.3(BBS12):c.1786C>T (p.Gln596Ter)	BBS12 (Q596*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome	GPathogenic
Select item 2498288	NM_152618.3(BBS12):c.2068dup (p.Ile690fs)	BBS12 (I690fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2435112	NM_152618.3(BBS12):c.695_731del (p.Ile232fs)	BBS12 (I232fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12	GPathogenic
Select item 1324316	NM_152618.3(BBS12):c.683del (p.Gln228fs)	BBS12 (Q228fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12	GPathogenic
Select item 1323970	NM_152618.3(BBS12):c.1972C>T (p.Gln658Ter)	BBS12 (Q658*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 990257	NM_152618.3(BBS12):c.1907T>C (p.Ile636Thr)	BBS12 (I636T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 990255	NM_152618.3(BBS12):c.1577T>C (p.Leu526Ser)	BBS12 (L526S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 865926	NM_152618.3(BBS12):c.1763T>G (p.Leu588Arg)	BBS12 (L588R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 262667	NM_152618.3(BBS12):c.*38A>G	BBS12	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 68065	NM_152618.3(BBS12):c.323C>G (p.Pro108Arg)	BBS12 (P108R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GPathogenic

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Links from Gene

Items: 29