C2673873[trait identifier] AND "Counsyl"[submitter] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 551006	NM_017777.4(MKS1):c.1621G>T (p.Glu541Ter)	MKS1 (E541* +2 more)	Single nucleotide variant (nonsense +2 more)	Bardet-Biedl syndrome 13 +4 more	GUncertain significance
Select item 554941	NM_017777.4(MKS1):c.1614del (p.Met539fs)	MKS1 (M336fs +2 more)	Deletion (frameshift variant +1 more)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 220047	NM_017777.4(MKS1):c.1609C>T (p.Arg537Cys)	MKS1 (R537C +2 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 1 +4 more	GConflicting classifications of pathogenicity
Select item 554287	NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter)	MKS1 (R534* +2 more)	Single nucleotide variant (nonsense +2 more)	Bardet-Biedl syndrome 13 +4 more	GConflicting classifications of pathogenicity
Select item 260883	NM_017777.4(MKS1):c.1600C>A (p.Arg534=)	MKS1 (S506*)	Single nucleotide variant (synonymous variant +2 more)	not specified +5 more	GLikely benign
Select item 260882	NM_017777.4(MKS1):c.1588+12C>G	MKS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 13 +5 more	GLikely benign
Select item 324158	NM_017777.4(MKS1):c.1543C>T (p.Arg515Cys)	MKS1 (R515C +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 13 +5 more	GUncertain significance
Select item 551955	NM_017777.4(MKS1):c.1531_1534del (p.Ser511fs)	MKS1 (S511fs +3 more)	Deletion (frameshift variant)	not specified +5 more	GUncertain significance
Select item 555641	NM_017777.4(MKS1):c.1497del (p.Phe499fs)	MKS1 (F296fs +3 more)	Deletion (frameshift variant)	Familial aplasia of the vermis +5 more	GConflicting classifications of pathogenicity
Select item 1393	NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)	MKS1 (C492W +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 13 +9 more	GConflicting classifications of pathogenicity
Select item 557671	NM_017777.4(MKS1):c.1434_1462del (p.Arg479fs)	MKS1 (R276fs +1 more)	Deletion (frameshift variant +1 more)	Joubert syndrome 28 +2 more	GLikely pathogenic
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 556614	NM_017777.4(MKS1):c.1408-2A>G	MKS1	Single nucleotide variant (splice acceptor variant +1 more)	Bardet-Biedl syndrome 13 +2 more	GLikely pathogenic
Select item 188400	NM_017777.4(MKS1):c.1408-34_1408-6del	MKS1	Deletion (intron variant)	Bardet-Biedl syndrome 13 +6 more	GPathogenic
Select item 555057	NM_017777.4(MKS1):c.1407+3_1407+5delinsAAT	MKS1	Indel (intron variant)	Joubert syndrome 28 +2 more	GUncertain significance
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 183011	NM_017777.4(MKS1):c.1382A>G (p.Tyr461Cys)	MKS1 (Y461C +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +4 more	GUncertain significance
Select item 552912	NM_017777.4(MKS1):c.1331_1345del (p.Glu444_Phe449delinsVal)	MKS1	Deletion (inframe_indel +1 more)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 556256	NM_017777.4(MKS1):c.1288_1314del (p.Thr430_Glu438del)	MKS1	Deletion (inframe_deletion +1 more)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 558281	NM_017777.4(MKS1):c.1268C>T (p.Thr423Ile)	MKS1 (T423I +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 217672	NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)	MKS1 (S403L +1 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 13 +4 more	GConflicting classifications of pathogenicity
Select item 219658	NM_017777.4(MKS1):c.1175C>T (p.Pro392Leu)	MKS1 (P392L +1 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 13 +5 more	GUncertain significance
Select item 556907	NM_017777.4(MKS1):c.1166-2A>G	MKS1	Single nucleotide variant (splice acceptor variant)	Familial aplasia of the vermis +4 more	GLikely pathogenic
Select item 217677	NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)	MKS1 (S372del +1 more)	Deletion (inframe_deletion)	Meckel syndrome, type 1 +9 more	GPathogenic/Likely pathogenic
Select item 551726	NM_017777.4(MKS1):c.1076CCA[1] (p.Thr360del)	MKS1 (T360del +1 more)	Microsatellite (inframe_deletion)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 260879	NM_017777.4(MKS1):c.1063A>G (p.Thr355Ala)	MKS1 (T355A +1 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 13 +3 more	GConflicting classifications of pathogenicity
Select item 194102	NM_017777.4(MKS1):c.1025-2A>C	MKS1	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 13 +3 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 556312	NM_017777.4(MKS1):c.858+1G>A	MKS1	Single nucleotide variant (splice donor variant)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 445724	NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)	MKS1 (D286G +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 211503	NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)	MKS1 (R282* +1 more)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 13 +4 more	GPathogenic/Likely pathogenic
Select item 555649	NM_017777.4(MKS1):c.823GAG[5] (p.Glu278dup)	MKS1	Microsatellite (inframe_insertion)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 554581	NM_017777.4(MKS1):c.829G>T (p.Glu277Ter)	MKS1 (E277* +1 more)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 13 +5 more	GPathogenic/Likely pathogenic
Select item 260887	NM_017777.4(MKS1):c.771G>A (p.Lys257=)	MKS1	Single nucleotide variant (synonymous variant)	not specified +5 more	GLikely benign
Select item 553842	NM_017777.4(MKS1):c.515+2T>G	MKS1	Single nucleotide variant (intron variant +1 more)	Meckel syndrome, type 1 +2 more	GLikely pathogenic
Select item 56624	NM_017777.4(MKS1):c.515+1G>A	MKS1	Single nucleotide variant (intron variant +1 more)	Bardet-Biedl syndrome 13 +5 more	GPathogenic/Likely pathogenic
Select item 235405	NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)	MKS1 (R170*)	Single nucleotide variant (nonsense +1 more)	Meckel-Gruber syndrome +5 more	GPathogenic/Likely pathogenic
Select item 217682	NM_017777.4(MKS1):c.493C>T (p.Arg165Cys)	MKS1 (R165C)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 13 +4 more	GConflicting classifications of pathogenicity
Select item 1392	NM_017777.4(MKS1):c.417G>A (p.Glu139=)	MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel-Gruber syndrome +6 more	GPathogenic/Likely pathogenic
Select item 371770	NM_017777.4(MKS1):c.367dup (p.Arg123fs)	MKS1 (R123fs)	Duplication (5 prime UTR variant +1 more)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 188334	NM_017777.4(MKS1):c.233T>G (p.Ile78Ser)	MKS1 (I78S)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 324168	NM_017777.4(MKS1):c.214G>A (p.Glu72Lys)	MKS1 (E72K)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 28 +4 more	GUncertain significance
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 56619	NM_017777.4(MKS1):c.184_190del (p.Thr62fs)	MKS1 (T62fs)	Deletion (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 13 +5 more	GPathogenic/Likely pathogenic
Select item 126271	NM_017777.4(MKS1):c.110A>G (p.Asn37Ser)	MKS1 (N37S)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 13 +3 more	GUncertain significance
Select item 324170	NM_017777.4(MKS1):c.80+14C>G	LOC130061271, MKS1	Single nucleotide variant (intron variant)	Meckel syndrome, type 1 +4 more	GConflicting classifications of pathogenicity
Select item 1390	NM_017777.4(MKS1):c.80+2T>C	LOC130061271, MKS1	Single nucleotide variant (splice donor variant)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 56625	NM_017777.4(MKS1):c.51_55dup (p.Asp19fs)	LOC130061271, MKS1 (D19fs)	Duplication (5 prime UTR variant +1 more)	Familial aplasia of the vermis +4 more	GPathogenic/Likely pathogenic
Select item 558654	NM_017777.4(MKS1):c.1A>G (p.Met1Val)	LOC130061271, MKS1 (M1V)	Single nucleotide variant (5 prime UTR variant +2 more)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 557821	NM_017777.3(MKS1):c.-34_-12del23	LOC130061271, MKS1	Deletion (genic upstream transcript variant)	Meckel syndrome, type 1 +2 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 50