ClinVar for MedGen (Select 481785) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2073172	NM_015681.6(B9D1):c.505CTC[1] (p.Leu170del)	B9D1 (L170del)	Microsatellite (3 prime UTR variant +2 more)	Meckel syndrome, type 9 +3 more	GUncertain significance
Select item 1687049	NM_015681.6(B9D1):c.529G>C (p.Asp177His)	B9D1 (D177H)	Single nucleotide variant (3 prime UTR variant +2 more)	Meckel syndrome, type 9 +1 more	GLikely pathogenic
Select item 1192493	NM_001321218.2(B9D1):c.*61C>T	B9D1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 27 +2 more	GBenign
Select item 890122	NM_015681.6(B9D1):c.-42C>T	B9D1, LOC130060455	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel syndrome, type 9	GUncertain significance
Select item 890121	NM_015681.6(B9D1):c.-21C>T	B9D1, LOC130060455	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel syndrome, type 9	GUncertain significance
Select item 890120	NM_015681.6(B9D1):c.9C>G (p.Thr3=)	B9D1, LOC130060455	Single nucleotide variant (synonymous variant +1 more)	Meckel syndrome, type 9 +2 more	GConflicting classifications of pathogenicity
Select item 889437	NM_015681.6(B9D1):c.568A>T (p.Thr190Ser)	B9D1 (T190S)	Single nucleotide variant (3 prime UTR variant +2 more)	B9D1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 889436	NM_015681.6(B9D1):c.*58G>A	B9D1	Single nucleotide variant (3 prime UTR variant +1 more)	Meckel syndrome, type 9	GUncertain significance
Select item 695508	NM_015681.6(B9D1):c.516C>T (p.Asn172=)	B9D1	Single nucleotide variant (3 prime UTR variant +2 more)	Meckel syndrome, type 9 +2 more	GConflicting classifications of pathogenicity
Select item 674719	NM_015681.6(B9D1):c.63+23G>A	B9D1, LOC130060455	Single nucleotide variant (intron variant)	Meckel syndrome, type 9 +2 more	GBenign
Select item 388102	NM_015681.6(B9D1):c.597C>G (p.Pro199=)	B9D1	Single nucleotide variant (3 prime UTR variant +2 more)	Meckel-Gruber syndrome +3 more	GConflicting classifications of pathogenicity
Select item 322202	NM_015681.6(B9D1):c.-110G>A	B9D1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 322201	NM_015681.6(B9D1):c.-79C>G	B9D1	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel syndrome, type 9	GUncertain significance
Select item 322200	NM_015681.6(B9D1):c.-70G>A	B9D1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 322199	NM_015681.6(B9D1):c.90C>T (p.Cys30=)	B9D1	Single nucleotide variant (synonymous variant +1 more)	Meckel syndrome, type 9	GUncertain significance
Select item 322198	NM_015681.6(B9D1):c.457G>A (p.Gly153Ser)	B9D1 (G153S +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 9	GUncertain significance
Select item 322197	NM_015681.6(B9D1):c.*47C>T	B9D1	Single nucleotide variant (3 prime UTR variant +1 more)	Meckel syndrome, type 9	GUncertain significance
Select item 266100	NM_015681.6(B9D1):c.209T>C (p.Ile70Thr)	B9D1 (I70T)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 9	GUncertain significance
Select item 260676	NM_015681.6(B9D1):c.580T>C (p.Leu194=)	B9D1	Single nucleotide variant (3 prime UTR variant +2 more)	Familial aplasia of the vermis +3 more	GBenign/Likely benign
Select item 260675	NM_015681.6(B9D1):c.472+28C>T	B9D1 (P167L)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 27 +2 more	GBenign
Select item 260674	NM_015681.6(B9D1):c.376T>A (p.Ser126Thr)	B9D1 (S126T +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 260671	NM_015681.6(B9D1):c.181C>T (p.Arg61Trp)	B9D1 (R61W)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +3 more	GBenign/Likely benign
Select item 31103	NC_000017.11:g.(?_18856298)_(20402192_?)del	AKAP10, ALDH3A1 +87 more	Deletion	Meckel syndrome, type 9	GPathogenic
Select item 31102	NM_015681.6(B9D1):c.341+2T>C	B9D1	Single nucleotide variant (splice donor variant)	Joubert syndrome 27 +3 more	GPathogenic/Likely pathogenic

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Items: 24