B9D1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	ADORA2B, AKAP10 +333 more	Copy number gain	See cases	GPathogenic
Select item 58107	GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3	ADORA2B, AKAP10 +337 more	Copy number gain	See cases	GPathogenic
Select item 155418	GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1	LOC126862516, LOC126862517 +314 more	Copy number loss	See cases	GPathogenic
Select item 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	FAM106C, FAM83G +311 more	Copy number loss	See cases	GPathogenic
Select item 155110	GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 150691	GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 57018	GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 155648	GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3	LOC130060361, LOC130060362 +281 more	Copy number gain	See cases	GPathogenic
Select item 150743	GRCh38/hg38 17p11.2(chr17:16656162-20390697)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 58110	GRCh38/hg38 17p11.2(chr17:16656168-20390725)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 58113	GRCh38/hg38 17p11.2(chr17:16692462-20390725)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 155314	GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3	LOC130060442, LOC130060443 +251 more	Copy number gain	See cases	GPathogenic
Select item 151506	GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3	MYO15A, NT5M +252 more	Copy number gain	See cases	GPathogenic
Select item 155114	GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1	AKAP10, ALDH3A1 +249 more	Copy number loss	See cases	GPathogenic
Select item 152261	GRCh38/hg38 17p11.2(chr17:16699816-20492214)x3	AKAP10, ALDH3A1 +251 more	Copy number gain	See cases	GPathogenic
Select item 148912	GRCh38/hg38 17p11.2(chr17:16699816-20390725)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 58115	GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3	AKAP10, ALDH3A1 +253 more	Copy number gain	See cases	GPathogenic
Select item 58126	GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3	LOC130060419, LOC130060420 +248 more	Copy number gain	See cases	GPathogenic
Select item 155350	GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3	AKAP10, ALDH3A1 +252 more	Copy number gain	See cases	GPathogenic
Select item 146755	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 146754	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3	LOC130060406, LOC130060407 +248 more	Copy number gain	See cases	GPathogenic
Select item 147821	GRCh38/hg38 17p11.2(chr17:16734588-20316151)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 147756	GRCh38/hg38 17p11.2(chr17:16734588-20390725)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 58127	GRCh38/hg38 17p11.2(chr17:16760817-20429770)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 60437	GRCh38/hg38 17p11.2(chr17:16760818-20390725)x1	AKAP10, ALDH3A1 +247 more	Copy number loss	See cases	GPathogenic
Select item 58128	GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3	AKAP10, ALDH3A1 +250 more	Copy number gain	See cases	GPathogenic
Select item 545218	NC_000017.11:g.(?_16770855)_(20585863_?)del	AKAP10, ALDH3A1 +252 more	Deletion	Autism	GPathogenic
Select item 545217	Single allele	DRC3, LOC130060351 +248 more	Duplication	Autism	GPathogenic
Select item 60455	GRCh38/hg38 17p11.2(chr17:16836827-20465067)x1	AKAP10, ALDH3A1 +246 more	Copy number loss	See cases	GPathogenic
Select item 58132	GRCh38/hg38 17p11.2(chr17:16836827-20504849)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 58131	GRCh38/hg38 17p11.2(chr17:16836827-20340442)x3	AKAP10, ALDH3A1 +243 more	Copy number gain	See cases	GPathogenic
Select item 153671	GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1	AKAP10, ALDH3A1 +244 more	Copy number loss	See cases	GPathogenic
Select item 155529	GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1	AKAP10, ALDH3A1 +243 more	Copy number loss	See cases	GPathogenic
Select item 150319	GRCh38/hg38 17p11.2(chr17:16854250-20560048)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 149203	GRCh38/hg38 17p11.2(chr17:16854250-20492214)x3	AKAP10, ALDH3A1 +245 more	Copy number gain	See cases	GPathogenic
Select item 145065	GRCh38/hg38 17p11.2(chr17:16854250-20492169)x3	LOC130060411, LOC130060412 +245 more	Copy number gain	See cases	GPathogenic
Select item 60457	GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1	AKAP10, ALDH3A1 +245 more	Copy number loss	See cases	GPathogenic
Select item 60456	GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 155143	GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1	AKAP10, ALDH3A1 +246 more	Copy number loss	See cases	GPathogenic
Select item 153822	GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 144213	GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3	SLC5A10, SMCR2 +242 more	Copy number gain	See cases	GPathogenic
Select item 57035	GRCh38/hg38 17p11.2(chr17:16879232-20390725)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 57034	GRCh38/hg38 17p11.2(chr17:16879232-20390725)x3	AKAP10, ALDH3A1 +242 more	Copy number gain	See cases	GPathogenic
Select item 146753	GRCh38/hg38 17p11.2(chr17:16879233-20390697)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 58134	GRCh38/hg38 17p11.2(chr17:16919369-20289856)x3	AKAP10, ALDH3A1 +241 more	Copy number gain	See cases	GPathogenic
Select item 150379	GRCh38/hg38 17p11.2(chr17:16989087-20370816)x1	AKAP10, ALDH3A1 +226 more	Copy number loss	See cases	GPathogenic
Select item 152568	GRCh38/hg38 17p11.2(chr17:17018951-20148630)x1	AKAP10, ALDH3A1 +220 more	Copy number loss	See cases	GPathogenic
Select item 146614	GRCh38/hg38 17p11.2(chr17:17331511-20022528)x1	AKAP10, ALDH3A1 +187 more	Copy number loss	See cases	GPathogenic
Select item 60134	GRCh38/hg38 17p11.2(chr17:18828089-20467764)x3	AKAP10, ALDH3A1 +91 more	Copy number gain	See cases	GUncertain significance
Select item 31103	NC_000017.11:g.(?_18856298)_(20402192_?)del	AKAP10, ALDH3A1 +87 more	Deletion	Meckel syndrome, type 9	GPathogenic
Select item 148929	GRCh38/hg38 17p11.2(chr17:18859289-20316151)x1	AKAP10, ALDH3A1 +87 more	Copy number loss	See cases	GLikely pathogenic
Select item 144242	GRCh38/hg38 17p11.2(chr17:18872617-20316151)x1	AKAP10, ALDH3A1 +87 more	Copy number loss	See cases	GPathogenic
Select item 60135	GRCh38/hg38 17p11.2(chr17:19070690-21619442)x3	AKAP10, ALDH3A1 +116 more	Copy number gain	See cases	GUncertain significance
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)	Joubert syndrome 27 +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 +2 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 1239791	NM_001321218.2(B9D1):c.473-295T>C	B9D1, LOC130060453	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197455	NM_001321218.2(B9D1):c.473-304G>A	B9D1, LOC130060453	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3024937	NM_001321217.2(B9D1):c.530C>T (p.Ala177Val)	B9D1 (A177V)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely 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)	Meckel-Gruber syndrome +2 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)	Meckel-Gruber syndrome +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 syndrome, type 9 +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)	Meckel syndrome, type 9 +4 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)	Familial aplasia of the vermis +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-Gruber syndrome +3 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)	not specified +2 more	GLikely benign
Select item 1518761	NM_015681.6(B9D1):c.551A>T (p.Asp184Val)	B9D1 (D184V)	Single nucleotide variant (intron 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 (3 prime UTR 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)	not specified +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)	Familial aplasia of the vermis +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)	Familial aplasia of the vermis +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 (missense variant +2 more)	Familial aplasia of the vermis +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

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