BOD1[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	ADAM19, ADAMTS2 +863 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 58395	GRCh38/hg38 5q35.1-35.2(chr5:172776798-174342969)x1	ATP6V0E1, BNIP1 +91 more	Copy number loss	See cases	GPathogenic
Select item 58396	GRCh38/hg38 5q35.1-35.2(chr5:172961091-175054665)x1	ATP6V0E1, BNIP1 +81 more	Copy number loss	See cases	GPathogenic
Select item 154580	GRCh38/hg38 5q35.1-35.2(chr5:173237772-176614618)x3	ARL10, BOD1 +131 more	Copy number gain	See cases	GPathogenic
Select item 3034241	NM_138369.3(BOD1):c.*1+6G>A	BOD1	Single nucleotide variant (intron variant)	BOD1-related disorder	GLikely benign
Select item 3047505	NM_138369.3(BOD1):c.555del (p.Ter186LysextTer?)	BOD1	Deletion (frameshift variant +2 more)	BOD1-related disorder	GLikely benign
Select item 3042301	NM_138369.3(BOD1):c.549C>T (p.Asp183=)	BOD1	Single nucleotide variant (synonymous variant +2 more)	BOD1-related disorder	GLikely benign
Select item 3056759	NM_138369.3(BOD1):c.543T>C (p.Ser181=)	BOD1	Single nucleotide variant (synonymous variant +2 more)	BOD1-related disorder	GLikely benign
Select item 2613210	NM_138369.3(BOD1):c.541T>A (p.Ser181Thr)	BOD1 (S181T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 983401	NM_138369.3(BOD1):c.514C>G (p.Pro172Ala)	BOD1 (P172A)	Single nucleotide variant (missense variant +2 more)	Intellectual disability	GUncertain significance
Select item 3050869	NM_138369.3(BOD1):c.483A>G (p.Lys161=)	BOD1	Single nucleotide variant (synonymous variant +2 more)	BOD1-related disorder	GLikely benign
Select item 3042683	NM_138369.3(BOD1):c.474G>A (p.Ala158=)	BOD1	Single nucleotide variant (synonymous variant +2 more)	BOD1-related disorder	GLikely benign
Select item 3056998	NM_138369.3(BOD1):c.457del (p.Ile153fs)	BOD1 (I153fs)	Deletion (frameshift variant +2 more)	BOD1-related disorder	GUncertain significance
Select item 3043227	NM_138369.3(BOD1):c.453A>G (p.Arg151=)	BOD1	Single nucleotide variant (synonymous variant +2 more)	BOD1-related disorder	GLikely benign
Select item 2533848	NM_138369.3(BOD1):c.356T>C (p.Val119Ala)	BOD1 (V119A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1698073	NM_138369.3(BOD1):c.334C>T (p.Arg112Ter)	BOD1 (R112*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1706326	NM_138369.3(BOD1):c.238-8C>G	BOD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2228055	NM_138369.3(BOD1):c.124G>A (p.Ala42Thr)	BOD1 (A42T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321146	NM_138369.3(BOD1):c.94G>A (p.Ala32Thr)	BOD1 (A32T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622902	NM_138369.3(BOD1):c.70G>A (p.Gly24Arg)	BOD1 (G24R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272561	NM_138369.3(BOD1):c.61G>C (p.Ala21Pro)	BOD1 (A21P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685184	GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1	ARL10, ATP6V0E1 +37 more	Copy number loss	not provided	GPathogenic
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 692223	GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1	SPDL1, TENM2 +37 more	Copy number loss	Atrial septal defect 7	GPathogenic
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 221449	GRCh37/hg19 5q35.2(chr5:173043321-174953690)x3	CPEB4, DRD1 +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 36