ClinVar for MedGen (Select 856141) - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362626	NM_152384.3(BBS5):c.964C>T (p.Leu322Phe)	BBS5 (L322F)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 5	GUncertain significance
Select item 3242538	NM_152384.3(BBS5):c.208+5G>A	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 5	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 2671574	NM_152384.3(BBS5):c.420dup (p.Lys141Ter)	BBS5 (K141*)	Duplication (nonsense)	Bardet-Biedl syndrome 5	GPathogenic
Select item 2439480	NM_152384.3(BBS5):c.387-3T>C	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 5	GUncertain significance
Select item 1878589	NM_152384.3(BBS5):c.142+1del	BBS5	Deletion (splice donor variant)	Bardet-Biedl syndrome 5	GLikely pathogenic
Select item 1685564	NM_152384.3(BBS5):c.209-1G>A	BBS5	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 5	GPathogenic
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 1679815	NM_152384.3:c.(?_-60)_(386+1_387-1)del	BBS5	Deletion	Bardet-Biedl syndrome 5	GPathogenic
Select item 1536263	NM_152384.3(BBS5):c.523-18C>T	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 5 +1 more	GLikely benign
Select item 1522903	NM_152384.3(BBS5):c.770A>G (p.Tyr257Cys)	BBS5 (Y257C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 5 +1 more	GUncertain significance
Select item 1495095	NM_152384.3(BBS5):c.569A>C (p.His190Pro)	BBS5 (H190P)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
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 1425304	NM_152384.3(BBS5):c.668A>T (p.Glu223Val)	BBS5 (E223V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1413888	NM_152384.3(BBS5):c.325A>G (p.Ile109Val)	BBS5 (I109V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1382286	NM_152384.3(BBS5):c.259-3C>T	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 5 +1 more	GUncertain significance
Select item 1368925	NM_152384.3(BBS5):c.824C>T (p.Pro275Leu)	BBS5 (P275L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1333336	NM_152384.3(BBS5):c.791G>T (p.Gly264Val)	BBS5 (G264V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 5	GUncertain significance
Select item 1333315	NM_152384.3(BBS5):c.898del (p.Val300fs)	BBS5 (V300fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 5	GLikely pathogenic
Select item 1210083	NM_152384.3(BBS5):c.425T>G (p.Leu142Ter)	BBS5 (L142*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 1167095	NM_152384.3(BBS5):c.619-16_619-15del	BBS5	Deletion (intron variant)	Bardet-Biedl syndrome +1 more	GBenign/Likely benign
Select item 1072279	NM_152384.3(BBS5):c.559_560insGA (p.Ile187fs)	BBS5 (I187fs)	Insertion (frameshift variant)	Bardet-Biedl syndrome 5	GPathogenic
Select item 1056120	NM_152384.3(BBS5):c.259-3C>G	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1042319	NM_152384.3(BBS5):c.211G>A (p.Val71Ile)	BBS5 (V71I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1033147	NM_152384.3(BBS5):c.709del (p.Lys236_Ile237insTer)	BBS5	Deletion (nonsense)	Bardet-Biedl syndrome 5 +1 more	GPathogenic
Select item 1033146	NM_152384.3(BBS5):c.472G>A (p.Glu158Lys)	BBS5 (E158K)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 5 +1 more	GUncertain significance
Select item 1018152	NM_152384.3(BBS5):c.308G>A (p.Ser103Asn)	BBS5 (S103N)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
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 1015407	NM_152384.3(BBS5):c.332C>T (p.Thr111Ile)	BBS5 (T111I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 964151	NM_152384.3(BBS5):c.844G>A (p.Glu282Lys)	BBS5 (E282K)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 5 +1 more	GUncertain significance
Select item 956784	NM_152384.3(BBS5):c.303dup (p.Asn102Ter)	BBS5 (N102*)	Duplication (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 944303	NM_152384.3(BBS5):c.475C>T (p.His159Tyr)	BBS5 (H159Y)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 5 +1 more	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 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 841782	NM_152384.3(BBS5):c.593A>G (p.Asn198Ser)	BBS5 (N198S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 812227	NM_152384.3(BBS5):c.619-1G>C	BBS5	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
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 701357	NM_152384.3(BBS5):c.516T>C (p.Ser172=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 5 +2 more	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 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 635028	NM_152384.3(BBS5):c.386+1G>T	BBS5	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 5	GLikely pathogenic
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 560431	NM_152384.3(BBS5):c.258+2T>C	BBS5	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 5	GPathogenic
Select item 560430	NM_152384.3(BBS5):c.209-2A>G	BBS5	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 5 +1 more	GLikely pathogenic
Select item 531823	NM_152384.3(BBS5):c.265C>T (p.Arg89Ter)	BBS5 (R89*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 437994	NM_152384.3(BBS5):c.900G>C (p.Val300=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 434496	NM_152384.3(BBS5):c.966dup (p.Ala323fs)	BBS5 (A323fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 5	GPathogenic/Likely pathogenic
Select item 417200	NM_152384.3(BBS5):c.468A>G (p.Pro156=)	BBS5	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 412295	NM_152384.3(BBS5):c.751A>G (p.Asn251Asp)	BBS5 (N251D)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 412294	NM_152384.3(BBS5):c.203A>G (p.Asn68Ser)	BBS5 (N68S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
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 191306	NM_152384.3(BBS5):c.532G>A (p.Gly178Arg)	BBS5 (G178R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 5	GLikely pathogenic
Select item 6162	NM_152384.3(BBS5):c.547A>G (p.Thr183Ala)	BBS5 (T183A)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 5	GPathogenic
Select item 6161	NM_152384.3(BBS5):c.214G>A (p.Gly72Ser)	BBS5 (G72S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 5 +1 more	GPathogenic/Likely pathogenic
Select item 6160	NM_152384.3(BBS5):c.177G>A (p.Trp59Ter)	BBS5 (W59*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome	GPathogenic
Select item 6159	BBS5, 8-BP DEL/7-BP INS, NT263	BBS5	Indel	Bardet-Biedl syndrome 5	GPathogenic
Select item 6158	NM_152384.3(BBS5):c.425T>A (p.Leu142Ter)	BBS5 (L142*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 5	GPathogenic
Select item 6157	NM_152384.3(BBS5):c.522+3A>G	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GPathogenic

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Links from MedGen

Items: 59