"GeneDx"[submitter] AND "B9D1"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60134	GRCh38/hg38 17p11.2(chr17:18828089-20467764)x3	AKAP10, ALDH3A1 +91 more	Copy number gain	See cases	GUncertain significance
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)	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 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 1197636	NM_015681.5(B9D1):c.*188C>A	B9D1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 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 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 510657	NM_015681.6(B9D1):c.567T>C (p.Asp189=)	B9D1	Single nucleotide variant (3 prime UTR variant +2 more)	Familial aplasia of the vermis +2 more	GLikely benign
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 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 +1 more	GBenign
Select item 260675	NM_015681.6(B9D1):c.472+28C>T	B9D1 (P167L)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 9 +3 more	GBenign
Select item 254678	NM_015681.6(B9D1):c.467G>A (p.Arg156Gln)	B9D1 (R156Q +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +3 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 675968	NM_015681.6(B9D1):c.404+52A>G	B9D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260674	NM_015681.6(B9D1):c.376T>A (p.Ser126Thr)	B9D1 (S126T +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 1180246	NM_015681.6(B9D1):c.342-35C>T	B9D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1064604	NM_015681.6(B9D1):c.341G>A (p.Arg114Gln)	B9D1 (R114Q)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +4 more	GLikely pathogenic
Select item 681104	NM_015681.6(B9D1):c.245-19C>A	B9D1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +2 more	GBenign/Likely benign
Select item 1197087	NM_015681.6(B9D1):c.245-43del	B9D1	Deletion (intron variant)	not provided	GLikely benign
Select item 1247163	NM_015681.6(B9D1):c.245-183G>C	B9D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204518	NM_015681.6(B9D1):c.244+185C>T	B9D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199447	NM_015681.6(B9D1):c.244+133C>T	B9D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260672	NM_015681.6(B9D1):c.237C>G (p.Pro79=)	B9D1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 260671	NM_015681.6(B9D1):c.181C>T (p.Arg61Trp)	B9D1 (R61W)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 9 +4 more	GBenign/Likely benign
Select item 1687696	NM_015681.6(B9D1):c.167A>G (p.Lys56Arg)	B9D1 (K56R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 663790	NM_015681.6(B9D1):c.151T>C (p.Ser51Pro)	B9D1 (S51P)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1240773	NM_015681.6(B9D1):c.132+209A>C	B9D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242169	NM_015681.6(B9D1):c.64-102A>G	B9D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225001	NM_015681.6(B9D1):c.63+224G>A	B9D1, LOC130060454	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192004	NM_015681.6(B9D1):c.63+92A>C	LOC130060455, B9D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1041616	NM_015681.6(B9D1):c.11C>G (p.Ala4Gly)	B9D1, LOC130060455 (A4G)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 322200	NM_015681.6(B9D1):c.-70G>A	B9D1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
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 682321	NM_015681.3(B9D1):c.-199C>T	B9D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186212	NM_001368769.2(B9D1):c.-297-2494T>G	B9D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178285	NM_001368769.2(B9D1):c.-298+166T>G	B9D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253648	GRCh37/hg19 17p11.2(chr17:16654302-20261250)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 253611	GRCh37/hg19 17p12-11.2(chr17:15767020-20261250)x3	ADORA2B, AKAP10 +59 more	Copy number gain	See cases	GPathogenic
Select item 253426	GRCh37/hg19 17p11.2(chr17:17053390-19893098)x1	EPN2, EVPLL +45 more	Copy number loss	See cases	GPathogenic

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Items: 51