B9D2[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 39302	NM_000660.6(TGFB1):c.-1347T>C	TGFB1, B9D2	Single nucleotide variant	not provided +2 more	GBenign
Select item 261879	NM_030578.4(B9D2):c.*18G>A	B9D2	Single nucleotide variant (3 prime UTR variant)	not specified +4 more	GBenign
Select item 3047047	NM_030578.4(B9D2):c.516C>A (p.Gly172=)	B9D2	Single nucleotide variant (synonymous variant)	B9D2-related condition	GLikely benign
Select item 2934918	NM_030578.4(B9D2):c.516C>T (p.Gly172=)	B9D2	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 261882	NM_030578.4(B9D2):c.513C>T (p.Tyr171=)	B9D2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2143683	NM_030578.4(B9D2):c.509G>A (p.Arg170His)	B9D2 (R170H)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2102527	NM_030578.4(B9D2):c.508C>T (p.Arg170Cys)	B9D2 (R170C)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1387088	NM_030578.4(B9D2):c.508C>G (p.Arg170Gly)	B9D2 (R170G)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 281470	NM_030578.4(B9D2):c.496C>T (p.Arg166Cys)	B9D2 (R166C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 699806	NM_030578.4(B9D2):c.495C>T (p.Leu165=)	B9D2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1984576	NM_030578.4(B9D2):c.484G>A (p.Gly162Ser)	B9D2 (G162S)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1341710	NM_030578.4(B9D2):c.484G>T (p.Gly162Cys)	B9D2 (G162C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 701412	NM_030578.4(B9D2):c.483C>T (p.Ile161=)	B9D2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 217556	NM_030578.4(B9D2):c.463G>A (p.Gly155Ser)	B9D2 (G155S)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GPathogenic/Likely pathogenic
Select item 2614115	NM_030578.4(B9D2):c.461G>T (p.Gly154Val)	B9D2 (G154V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2931262	NM_030578.4(B9D2):c.432C>T (p.Ala144=)	B9D2	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2292145	NM_030578.4(B9D2):c.428G>C (p.Gly143Ala)	B9D2 (G143A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 779810	NM_030578.4(B9D2):c.381C>T (p.Phe127=)	B9D2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1409600	NM_030578.4(B9D2):c.374G>A (p.Arg125Gln)	B9D2 (R125Q)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1343716	NM_030578.4(B9D2):c.359G>A (p.Arg120Gln)	B9D2 (R120Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 461770	NM_030578.4(B9D2):c.346C>T (p.Leu116=)	B9D2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 699099	NM_030578.4(B9D2):c.336G>A (p.Thr112=)	B9D2	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 755746	NM_030578.4(B9D2):c.324G>A (p.Leu108=)	B9D2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 697626	NM_030578.4(B9D2):c.309G>A (p.Pro103=)	B9D2	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2059724	NM_030578.4(B9D2):c.307C>T (p.Pro103Ser)	B9D2 (P103S)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 30931	NM_030578.4(B9D2):c.301A>C (p.Ser101Arg)	B9D2 (S101R)	Single nucleotide variant (missense variant)	Joubert syndrome and related disorders	GPathogenic
Select item 2140190	NM_030578.4(B9D2):c.263G>A (p.Arg88His)	B9D2 (R88H)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1350607	NM_030578.4(B9D2):c.262C>T (p.Arg88Cys)	B9D2 (R88C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 850512	NM_030578.4(B9D2):c.238G>A (p.Val80Met)	B9D2 (V80M)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2501262	NM_030578.4(B9D2):c.223_224insT (p.Arg75fs)	B9D2 (R75fs)	Insertion (frameshift variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1970648	NM_030578.4(B9D2):c.224G>A (p.Arg75Gln)	B9D2 (R75Q)	Single nucleotide variant (missense variant)	B9D2-related condition +2 more	GLikely benign
Select item 700643	NM_030578.4(B9D2):c.222C>T (p.Pro74=)	B9D2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 217558	NM_030578.4(B9D2):c.220C>T (p.Pro74Ser)	B9D2 (P74S)	Single nucleotide variant (missense variant)	Joubert syndrome and related disorders +1 more	GPathogenic/Likely pathogenic
Select item 261880	NM_030578.4(B9D2):c.215-16C>G	B9D2	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +2 more	GBenign
Select item 1183450	NM_030578.4(B9D2):c.214+101A>G	B9D2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192349	NM_030578.4(B9D2):c.214+25T>G	B9D2	Single nucleotide variant (intron variant)	Meckel syndrome, type 10 +1 more	GBenign
Select item 241603	NM_030578.4(B9D2):c.195C>T (p.Phe65=)	B9D2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +3 more	GBenign/Likely benign
Select item 1983726	NM_030578.4(B9D2):c.186C>T (p.Asp62=)	B9D2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 695821	NM_030578.4(B9D2):c.183C>T (p.Ile61=)	B9D2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 812149	NM_030578.4(B9D2):c.168C>G (p.Tyr56Ter)	B9D2 (Y56*)	Single nucleotide variant (nonsense)	Meckel syndrome, type 10	GLikely pathogenic
Select item 461769	NM_030578.4(B9D2):c.163_164delinsAA (p.Ala55Asn)	B9D2 (A55N)	Indel (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 188273	NM_030578.4(B9D2):c.156_163del (p.Asp53fs)	B9D2 (D53fs)	Deletion (frameshift variant)	Familial aplasia of the vermis +1 more	GPathogenic/Likely pathogenic
Select item 2536277	NM_030578.4(B9D2):c.157G>C (p.Asp53His)	B9D2 (D53H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1351237	NM_030578.4(B9D2):c.157G>T (p.Asp53Tyr)	B9D2 (D53Y)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 329345	NM_030578.4(B9D2):c.151A>C (p.Ile51Leu)	B9D2 (I51L)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 461768	NM_030578.4(B9D2):c.150G>C (p.Gln50His)	B9D2 (Q50H)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2054993	NM_030578.4(B9D2):c.132G>A (p.Thr44=)	B9D2	Single nucleotide variant (synonymous variant)	B9D2-related condition +2 more	GLikely benign
Select item 1878996	NM_030578.4(B9D2):c.131C>T (p.Thr44Met)	B9D2 (T44M)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 1363298	NM_030578.4(B9D2):c.115G>A (p.Val39Met)	B9D2 (V39M)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 217557	NM_030578.4(B9D2):c.107T>C (p.Leu36Pro)	B9D2 (L36P)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis	GPathogenic
Select item 1593941	NM_030578.4(B9D2):c.89-15C>T	B9D2	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1262508	NM_030578.4(B9D2):c.89-43G>A	B9D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242321	NM_030578.4(B9D2):c.89-67T>C	B9D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188357	NM_030578.4(B9D2):c.88+102A>G	B9D2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205185	NM_030578.4(B9D2):c.88+26C>T	B9D2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934848	NM_030578.4(B9D2):c.88+17G>C	B9D2	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 261883	NM_030578.4(B9D2):c.88+6C>T	B9D2	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +4 more	GBenign/Likely benign
Select item 2501263	NM_030578.4(B9D2):c.33delinsTG (p.Ala13fs)	B9D2 (A13fs)	Indel (frameshift variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 261881	NM_030578.4(B9D2):c.33A>G (p.Ile11Met)	B9D2 (I11M)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 790919	NM_030578.4(B9D2):c.15C>T (p.His5=)	B9D2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 684427	NM_030578.4(B9D2):c.15C>A (p.His5Gln)	B9D2 (H5Q)	Single nucleotide variant (missense variant)	Meckel syndrome, type 10	GLikely pathogenic
Select item 2268607	NM_030578.4(B9D2):c.4G>A (p.Ala2Thr)	B9D2 (A2T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 434477	NM_030578.4(B9D2):c.-4-5C>T	B9D2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1192350	NM_030578.4(B9D2):c.-4-40C>G	B9D2	Single nucleotide variant (intron variant)	Meckel syndrome, type 10 +1 more	GBenign
Select item 1192351	NM_030578.4(B9D2):c.-4-60_-4-59insT	B9D2	Insertion (intron variant)	Meckel syndrome, type 10 +1 more	GBenign
Select item 1167460	NM_030578.4(B9D2):c.-5+107G>A	B9D2	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GBenign
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	MEGF8-related Carpenter syndrome +3 more	GUncertain significance
Select item 1409903	NC_000019.9:g.(?_41854180)_(41869424_?)dup	B9D2, TGFB1	Duplication	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 816082	GRCh37/hg19 19q13.2(chr19:41304025-41928997)x3	B9D2, CYP2S1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 74