B9D1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1202247	NM_001321218.2(B9D1):c.*61C>G	B9D1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1192493	NM_001321218.2(B9D1):c.*61C>T	B9D1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 1175626	NM_001321218.2(B9D1):c.*36G>T	B9D1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 983354	NM_001321219.2(B9D1):c.425C>A (p.Ser142Ter)	B9D1 (Q165K +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance
Select item 376895	NM_001321218.2(B9D1):c.473-1G>C	B9D1	Single nucleotide variant (splice acceptor variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1222802	NM_001321218.2(B9D1):c.473-34T>C	B9D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199651	NM_001321218.2(B9D1):c.473-158A>G	B9D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292519	NM_001321218.2(B9D1):c.473-165A>G	B9D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3024937	NM_001321217.2(B9D1):c.530C>T (p.Ala177Val)	B9D1 (A177V)	Single nucleotide variant (intron variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1197636	NM_015681.5(B9D1):c.*188C>A	B9D1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 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 1706870	NM_015681.6(B9D1):c.*2G>A	B9D1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1413185	NM_015681.6(B9D1):c.613T>C (p.Ter205Arg)	B9D1	Single nucleotide variant (3 prime UTR variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2936927	NM_015681.6(B9D1):c.612G>T (p.Gln204His)	B9D1 (Q204H)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2142976	NM_015681.6(B9D1):c.608C>T (p.Pro203Leu)	B9D1 (P203L)	Single nucleotide variant (3 prime UTR variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1378585	NM_015681.6(B9D1):c.603C>A (p.Ser201Arg)	B9D1 (S201R)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1406984	NM_015681.6(B9D1):c.602G>A (p.Ser201Asn)	B9D1 (S201N)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
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 1435097	NM_015681.6(B9D1):c.584G>T (p.Gly195Val)	B9D1 (G195V)	Single nucleotide variant (3 prime UTR variant +2 more)	Meckel-Gruber syndrome +1 more	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 2088697	NM_015681.6(B9D1):c.579G>C (p.Val193=)	B9D1	Single nucleotide variant (3 prime UTR variant +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1431512	NM_015681.6(B9D1):c.577G>A (p.Val193Met)	B9D1 (V193M)	Single nucleotide variant (3 prime UTR variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 889437	NM_015681.6(B9D1):c.568A>T (p.Thr190Ser)	B9D1 (T190S)	Single nucleotide variant (3 prime UTR variant +2 more)	Meckel syndrome, type 9 +4 more	GConflicting classifications of pathogenicity
Select item 510657	NM_015681.6(B9D1):c.567T>C (p.Asp189=)	B9D1	Single nucleotide variant (3 prime UTR variant +2 more)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 1518761	NM_015681.6(B9D1):c.551A>T (p.Asp184Val)	B9D1 (D184V)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2094413	NM_015681.6(B9D1):c.548A>G (p.Tyr183Cys)	B9D1 (Y183C)	Single nucleotide variant (3 prime UTR variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1013129	NM_015681.6(B9D1):c.547T>A (p.Tyr183Asn)	B9D1 (Y183N)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1376545	NM_015681.6(B9D1):c.534G>A (p.Met178Ile)	B9D1 (M178I)	Single nucleotide variant (intron variant +2 more)	Meckel-Gruber syndrome +1 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 254680	NM_015681.6(B9D1):c.517GTG[1] (p.Val174del)	B9D1 (V174del)	Microsatellite (3 prime UTR variant +2 more)	Joubert syndrome 27	GPathogenic
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 2095612	NM_015681.6(B9D1):c.510C>T (p.Leu170=)	B9D1	Single nucleotide variant (3 prime UTR variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign
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 2023735	NM_015681.6(B9D1):c.510C>G (p.Leu170=)	B9D1	Single nucleotide variant (3 prime UTR variant +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2936930	NM_015681.6(B9D1):c.505C>G (p.Leu169Val)	B9D1 (L169V)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2922795	NM_015681.6(B9D1):c.493G>C (p.Gly165Arg)	B9D1 (G165R)	Single nucleotide variant (3 prime UTR variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 386519	NM_015681.6(B9D1):c.493G>T (p.Gly165Cys)	B9D1 (G165C)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 1473210	NM_015681.6(B9D1):c.485G>A (p.Arg162His)	B9D1 (R162H)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2928072	NM_015681.6(B9D1):c.480T>G (p.Arg160=)	B9D1	Single nucleotide variant (3 prime UTR variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1641556	NM_015681.6(B9D1):c.479G>A (p.Arg160His)	B9D1 (R160H)	Single nucleotide variant (3 prime UTR variant +2 more)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 2388969	NM_015681.6(B9D1):c.478C>T (p.Arg160Cys)	B9D1 (R160C)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1418967	NM_015681.6(B9D1):c.478C>A (p.Arg160Ser)	B9D1 (R160S)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1661546	NM_015681.6(B9D1):c.473-12T>C	B9D1 (F184L)	Single nucleotide variant (intron variant +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2944259	NM_015681.6(B9D1):c.473-13del	B9D1 (F184fs)	Deletion (frameshift variant +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1958081	NM_015681.6(B9D1):c.473-15C>G	B9D1 (P183A)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2577821	NM_015681.6(B9D1):c.473-52G>T	B9D1 (W170C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 431856	NM_015681.6(B9D1):c.473-81G>A	B9D1 (A161T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 379638	NM_015681.6(B9D1):c.473-93A>G	B9D1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GBenign
Select item 3034129	NM_015681.6(B9D1):c.473-145C>A	B9D1	Single nucleotide variant (3 prime UTR variant +1 more)	B9D1-related disorder	GLikely benign
Select item 1033788	NM_015681.6(B9D1):c.472+107G>A	B9D1	Single nucleotide variant (3 prime UTR variant +1 more)	Joubert syndrome 27	GUncertain significance
Select item 3025820	NM_015681.6(B9D1):c.472+71G>T	B9D1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely 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 1628221	NM_015681.6(B9D1):c.472+16C>T	B9D1 (P163L)	Single nucleotide variant (intron variant +1 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1158632	NM_015681.6(B9D1):c.472+16C>G	B9D1 (P163R)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2930223	NM_015681.6(B9D1):c.472+15C>G	B9D1 (P163A)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1546469	NM_015681.6(B9D1):c.472+13C>G	B9D1 (S162C)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1484031	NM_015681.6(B9D1):c.469G>A (p.Glu157Lys)	B9D1 (E157K +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 558747	NM_015681.6(B9D1):c.467G>C (p.Arg156Pro)	B9D1 (R156P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 254678	NM_015681.6(B9D1):c.467G>A (p.Arg156Gln)	B9D1 (R156Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 217554	NM_015681.6(B9D1):c.466C>T (p.Arg156Trp)	B9D1 (R156W +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis	GPathogenic
Select item 1556907	NM_015681.6(B9D1):c.465C>A (p.Gly155=)	B9D1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2301830	NM_015681.6(B9D1):c.462A>C (p.Glu154Asp)	B9D1 (E154D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2041948	NM_015681.6(B9D1):c.460G>T (p.Glu154Ter)	B9D1 (E34* +1 more)	Single nucleotide variant (nonsense +1 more)	Meckel-Gruber syndrome +1 more	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 1507955	NM_015681.6(B9D1):c.455A>G (p.Gln152Arg)	B9D1 (Q32R +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 423893	NM_015681.6(B9D1):c.446TGG[1] (p.Val150del)	B9D1 (V150del +1 more)	Microsatellite (inframe_deletion +1 more)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 2118536	NM_015681.6(B9D1):c.445G>A (p.Val149Met)	B9D1 (V149M +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 461761	NM_015681.6(B9D1):c.434C>T (p.Thr145Ile)	B9D1 (T145I +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 954335	NM_015681.6(B9D1):c.431A>G (p.Tyr144Cys)	B9D1 (Y24C +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1518341	NM_015681.6(B9D1):c.427G>A (p.Glu143Lys)	B9D1 (E143K +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1935777	NM_015681.6(B9D1):c.426C>T (p.Pro142=)	B9D1	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1478154	NM_015681.6(B9D1):c.421C>T (p.Arg141Trp)	B9D1 (R21W +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2151657	NM_015681.6(B9D1):c.419G>A (p.Arg140Gln)	B9D1 (R20Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 1927288	NM_015681.6(B9D1):c.415G>T (p.Gly139Trp)	B9D1 (G139W +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2019287	NM_015681.6(B9D1):c.405-9T>C	B9D1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1555051	NM_015681.6(B9D1):c.405-13_405-11del	B9D1	Microsatellite (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1954109	NM_015681.6(B9D1):c.405-19T>C	B9D1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 675968	NM_015681.6(B9D1):c.404+52A>G	B9D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2147864	NM_015681.6(B9D1):c.404+11T>C	B9D1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2945698	NM_015681.6(B9D1):c.404+10G>A	B9D1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1518893	NM_015681.6(B9D1):c.404+5G>C	B9D1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2233825	NM_015681.6(B9D1):c.397T>C (p.Phe133Leu)	B9D1 (F133L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1930287	NM_015681.6(B9D1):c.391C>T (p.Gln131Ter)	B9D1 (Q11* +1 more)	Single nucleotide variant (nonsense)	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 2337859	NM_015681.6(B9D1):c.382T>C (p.Ser128Pro)	B9D1 (S128P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1156206	NM_015681.6(B9D1):c.381G>A (p.Thr127=)	B9D1	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1521761	NM_015681.6(B9D1):c.380C>T (p.Thr127Met)	B9D1 (T7M +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
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 696952	NM_015681.6(B9D1):c.369C>A (p.Val123=)	B9D1	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1302336	NM_015681.6(B9D1):c.363del (p.Met121fs)	B9D1 (M121fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1354920	NM_015681.6(B9D1):c.362T>C (p.Met121Thr)	B9D1 (M121T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1115097	NM_015681.6(B9D1):c.360C>T (p.Pro120=)	B9D1	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2105797	NM_015681.6(B9D1):c.358C>G (p.Pro120Ala)	B9D1 (P120A)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1501388	NM_015681.6(B9D1):c.342-1_344dup	B9D1	Duplication (splice acceptor variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1014414	NM_015681.6(B9D1):c.344A>G (p.His115Arg)	B9D1 (H115R)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2923503	NM_015681.6(B9D1):c.342-1G>T	B9D1	Single nucleotide variant (splice acceptor variant)	Meckel-Gruber syndrome +1 more	GLikely pathogenic
Select item 2937971	NM_015681.6(B9D1):c.342-9T>C	B9D1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1062594	NM_015681.6(B9D1):c.342-10T>C	B9D1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1652500	NM_015681.6(B9D1):c.342-12C>T	B9D1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1180246	NM_015681.6(B9D1):c.342-35C>T	B9D1	Single nucleotide variant (intron variant)	not provided	GBenign

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