C2673873[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2676558	NM_017777.4(MKS1):c.1501G>T (p.Glu501Ter)	MKS1 (E298* +3 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 13	GLikely pathogenic
Select item 555641	NM_017777.4(MKS1):c.1497del (p.Phe499fs)	MKS1 (F296fs +3 more)	Deletion (frameshift variant)	Bardet-Biedl syndrome 13 +5 more	GConflicting classifications of pathogenicity
Select item 2676551	NM_017777.4(MKS1):c.1447_1490+22del	MKS1	Deletion (splice donor variant +1 more)	Bardet-Biedl syndrome 13	GLikely pathogenic
Select item 1512327	NM_017777.4(MKS1):c.1490+1G>A	MKS1	Single nucleotide variant (splice donor variant +1 more)	Familial aplasia of the vermis +2 more	GLikely pathogenic
Select item 1393	NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)	MKS1 (C492W +1 more)	Single nucleotide variant (missense variant +1 more)	MKS1-related condition +9 more	GConflicting classifications of pathogenicity
Select item 56617	NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)	MKS1 (T282fs +1 more)	Duplication (frameshift variant +1 more)	Familial aplasia of the vermis +6 more	GPathogenic/Likely pathogenic
Select item 435876	NM_017777.4(MKS1):c.1408-1dup	MKS1	Duplication (splice acceptor variant +1 more)	Meckel syndrome, type 1 +3 more	GPathogenic/Likely pathogenic
Select item 188400	NM_017777.4(MKS1):c.1408-34_1408-6del	MKS1	Deletion (intron variant)	Bardet-Biedl syndrome 13 +7 more	GPathogenic
Select item 371771	NM_017777.4(MKS1):c.1394del (p.Pro465fs)	MKS1 (P262fs +1 more)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 13 +4 more	GPathogenic/Likely pathogenic
Select item 281123	NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)	MKS1 (I450T +1 more)	Single nucleotide variant (missense variant +1 more)	MKS1-related condition +7 more	GConflicting classifications of pathogenicity
Select item 1918431	NM_017777.4(MKS1):c.1274-2A>C	MKS1	Single nucleotide variant (intron variant +1 more)	Bardet-Biedl syndrome 13 +2 more	GLikely pathogenic
Select item 948407	NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter)	MKS1 (Q408* +1 more)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 13 +4 more	GPathogenic/Likely pathogenic
Select item 2676553	NM_017777.4(MKS1):c.1203_1209delinsTCTCT (p.Leu404fs)	MKS1 (L201fs +1 more)	Indel (frameshift variant)	Bardet-Biedl syndrome 13	GLikely pathogenic
Select item 217672	NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)	MKS1 (S403L +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 556907	NM_017777.4(MKS1):c.1166-2A>G	MKS1	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 13 +4 more	GLikely pathogenic
Select item 2676554	NM_017777.4(MKS1):c.1165+2T>C	MKS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 13	GLikely pathogenic
Select item 217677	NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)	MKS1 (S372del +1 more)	Deletion (inframe_deletion)	Bardet-Biedl syndrome 13 +9 more	GPathogenic/Likely pathogenic
Select item 1066586	NM_017777.4(MKS1):c.1095+1G>A	MKS1	Single nucleotide variant (splice donor variant)	Familial aplasia of the vermis +2 more	GLikely pathogenic
Select item 2071903	NM_017777.4(MKS1):c.1074C>A (p.Cys358Ter)	MKS1 (C358* +1 more)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 13 +2 more	GPathogenic/Likely pathogenic
Select item 2009651	NM_017777.4(MKS1):c.1045C>T (p.Gln349Ter)	MKS1 (Q349* +1 more)	Single nucleotide variant (nonsense)	Meckel-Gruber syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1073914	NM_017777.4(MKS1):c.1031C>G (p.Ser344Ter)	MKS1 (S141* +1 more)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +3 more	GPathogenic/Likely pathogenic
Select item 194102	NM_017777.4(MKS1):c.1025-2A>C	MKS1	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 28 +4 more	GPathogenic/Likely pathogenic
Select item 1391	NM_017777.4(MKS1):c.1024+1G>A	MKS1	Single nucleotide variant (splice donor variant)	Joubert syndrome 28 +5 more	GPathogenic/Likely pathogenic
Select item 56627	NM_017777.4(MKS1):c.958G>A (p.Val320Ile)	MKS1 (V320I +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 1 +5 more	GConflicting classifications of pathogenicity
Select item 211503	NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)	MKS1 (R282* +1 more)	Single nucleotide variant (nonsense)	Meckel syndrome, type 1 +4 more	GPathogenic/Likely pathogenic
Select item 554581	NM_017777.4(MKS1):c.829G>T (p.Glu277Ter)	MKS1 (E277* +1 more)	Single nucleotide variant (nonsense)	Meckel syndrome, type 1 +4 more	GPathogenic/Likely pathogenic
Select item 1363964	NM_017777.4(MKS1):c.805dup (p.Ser269fs)	MKS1 (S269fs +1 more)	Duplication (frameshift variant)	Familial aplasia of the vermis +2 more	GPathogenic/Likely pathogenic
Select item 2676556	NM_017777.4(MKS1):c.766dup (p.Glu256fs)	MKS1 (E256fs +1 more)	Duplication (frameshift variant)	Bardet-Biedl syndrome 13	GLikely pathogenic
Select item 2676550	NM_017777.4(MKS1):c.766del (p.Glu256fs)	MKS1 (E256fs +1 more)	Deletion (frameshift variant)	Bardet-Biedl syndrome 13	GLikely pathogenic
Select item 1470119	NM_017777.4(MKS1):c.516-2A>G	MKS1	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 13 +2 more	GLikely pathogenic
Select item 56624	NM_017777.4(MKS1):c.515+1G>A	MKS1	Single nucleotide variant (intron variant +1 more)	Meckel syndrome, type 1 +4 more	GPathogenic/Likely pathogenic
Select item 235405	NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)	MKS1 (R170*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 13 +5 more	GPathogenic/Likely pathogenic
Select item 56623	NM_017777.4(MKS1):c.472C>T (p.Arg158Ter)	MKS1 (R158*)	Single nucleotide variant (nonsense +1 more)	Familial aplasia of the vermis +3 more	GPathogenic
Select item 838736	NM_017777.4(MKS1):c.458C>A (p.Ser153Ter)	MKS1 (S153*)	Single nucleotide variant (nonsense +1 more)	Familial aplasia of the vermis +2 more	GPathogenic/Likely pathogenic
Select item 191084	NM_017777.4(MKS1):c.417+1G>A	MKS1	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1392	NM_017777.4(MKS1):c.417G>A (p.Glu139=)	MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 28 +7 more	GPathogenic/Likely pathogenic
Select item 56620	NM_017777.4(MKS1):c.392_393del (p.Asp130_Ser131insTer)	MKS1	Microsatellite (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 13	GPathogenic
Select item 631779	NM_017777.4(MKS1):c.370C>T (p.Arg124Ter)	MKS1 (R124*)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +5 more	GConflicting classifications of pathogenicity
Select item 917949	NM_017777.4(MKS1):c.367C>T (p.Arg123Ter)	MKS1 (R123*)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +2 more	GPathogenic
Select item 2676557	NM_017777.4(MKS1):c.259C>T (p.Gln87Ter)	MKS1 (Q87*)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 13	GLikely pathogenic
Select item 1456980	NM_017777.4(MKS1):c.191-1G>A	MKS1	Single nucleotide variant (splice acceptor variant)	Meckel-Gruber syndrome +2 more	GPathogenic
Select item 550954	NM_017777.4(MKS1):c.190+2T>C	MKS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 13 +5 more	GLikely pathogenic
Select item 2108139	NM_017777.4(MKS1):c.190+1G>A	MKS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 13 +2 more	GLikely pathogenic
Select item 56619	NM_017777.4(MKS1):c.184_190del (p.Thr62fs)	MKS1 (T62fs)	Deletion (5 prime UTR variant +1 more)	MKS1-related condition +5 more	GPathogenic/Likely pathogenic
Select item 2676555	NM_017777.4(MKS1):c.171del (p.Phe57fs)	MKS1 (F57fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 13	GLikely pathogenic
Select item 2044174	NM_017777.4(MKS1):c.119_126dup (p.Pro43fs)	MKS1 (P43fs)	Duplication (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 13 +2 more	GPathogenic/Likely pathogenic
Select item 2026409	NM_017777.4(MKS1):c.81_82del	MKS1	Microsatellite	Meckel-Gruber syndrome +2 more	GPathogenic/Likely pathogenic
Select item 56625	NM_017777.4(MKS1):c.51_55dup (p.Asp19fs)	LOC130061271, MKS1 (D19fs)	Duplication (5 prime UTR variant +1 more)	Meckel syndrome, type 1 +4 more	GPathogenic/Likely pathogenic
Select item 1027784	NM_001165927.1(MKS1):c.32G>C (p.Arg11Pro)	MKS1	Single nucleotide variant	Bardet-Biedl syndrome 13	GUncertain significance

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Items: 49