"GeneDx"[submitter] AND "BMP7"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152492	GRCh38/hg38 20q13.2-13.32(chr20:54594888-58190583)x1	AURKA, BMP7 +91 more	Copy number loss	See cases	GPathogenic
Select item 59000	GRCh38/hg38 20q13.31(chr20:56929154-57422442)x3	BMP7, BMP7-AS1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 59979	GRCh38/hg38 20q13.31(chr20:57137573-57378043)x1	BMP7, BMP7-AS1 +9 more	Copy number loss	See cases	GUncertain significance
Select item 1273116	NM_001719.3(BMP7):c.1147-152A>G	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286946	NM_001719.3(BMP7):c.1146+192G>A	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1315742	NM_001719.3(BMP7):c.1146+151dup	BMP7	Duplication (intron variant)	not provided	GLikely benign
Select item 1242634	NM_001719.3(BMP7):c.1146+50C>T	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249651	NM_001719.3(BMP7):c.1036-341_1036-337del	BMP7	Microsatellite (intron variant)	not provided	GBenign
Select item 1258246	NM_001719.3(BMP7):c.1035+206T>C	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238833	NM_001719.3(BMP7):c.959-141C>A	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225889	NM_001719.3(BMP7):c.958+296del	BMP7	Deletion (intron variant)	not provided	GBenign
Select item 1291873	NM_001719.3(BMP7):c.958+216G>A	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224759	NM_001719.3(BMP7):c.958+186T>C	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241318	NM_001719.3(BMP7):c.958+123T>C	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316829	NM_001719.3(BMP7):c.958+54C>T	BMP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272402	NM_001719.3(BMP7):c.761-73A>T	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261546	NM_001719.3(BMP7):c.761-73A>G	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232667	NM_001719.3(BMP7):c.761-182A>G	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275600	NM_001719.3(BMP7):c.760+180A>G	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317274	NM_001719.3(BMP7):c.612-117G>A	BMP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232990	NM_001719.3(BMP7):c.611+6228C>A	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296942	NM_001719.3(BMP7):c.611+176G>A	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667564	NM_001719.3(BMP7):c.611+136G>A	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285787	NM_001719.3(BMP7):c.597G>A (p.Gln199=)	BMP7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 667563	NM_001719.3(BMP7):c.419-210G>A	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 1225510	NM_001719.3(BMP7):c.418+283G>T	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221117	NM_001719.3(BMP7):c.418+227G>A	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316902	NM_001719.3(BMP7):c.418+172C>A	BMP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259066	NM_001719.3(BMP7):c.279G>A (p.Glu93=)	BMP7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1316341	NM_001719.3(BMP7):c.-146C>T	BMP7, LOC109461473	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1276354	NM_001719.3(BMP7):c.-363C>T	BMP7, LOC109461473 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1286479	NC_000020.11:g.57266901C>A	BMP7, LOC109461473 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 33