"GeneDx"[submitter] AND "MCFD2"[gene] - ClinVar

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

Search results

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 336376	NM_139279.6(MCFD2):c.*133A>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2 +1 more	GBenign
Select item 336378	NM_139279.6(MCFD2):c.*73A>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2 +1 more	GBenign
Select item 1190708	NM_139279.6(MCFD2):c.310-59G>C	MCFD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275457	NM_139279.6(MCFD2):c.310-121_310-119dup	MCFD2	Duplication (intron variant)	not provided	GBenign
Select item 1267359	NM_139279.6(MCFD2):c.310-121dup	MCFD2	Duplication (intron variant)	not provided	GBenign
Select item 1261113	NM_139279.6(MCFD2):c.310-104_310-102del	MCFD2	Deletion (intron variant)	not provided	GBenign
Select item 1247953	NM_139279.6(MCFD2):c.310-102del	MCFD2	Deletion (intron variant)	not provided	GBenign
Select item 1194433	NM_139279.6(MCFD2):c.310-103_310-102del	MCFD2	Deletion (intron variant)	not provided	GLikely benign
Select item 1264585	NM_139279.6(MCFD2):c.310-123C>T	MCFD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287394	NM_139279.6(MCFD2):c.310-212C>A	MCFD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283880	NM_139279.6(MCFD2):c.310-322A>G	MCFD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269515	NM_139279.6(MCFD2):c.309+291C>G	MCFD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261327	NM_139279.6(MCFD2):c.309+45C>T	MCFD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262009	NM_139279.6(MCFD2):c.150-138T>C	MCFD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257752	NM_139279.6(MCFD2):c.150-296del	MCFD2	Deletion (intron variant)	not provided	GBenign
Select item 1219190	NM_139279.6(MCFD2):c.149+258C>A	MCFD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293874	NM_139279.6(MCFD2):c.149+183A>G	MCFD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260014	NM_139279.6(MCFD2):c.-6-301G>T	MCFD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293880	NM_139279.6(MCFD2):c.-6-324_-6-323del	MCFD2	Deletion (intron variant)	not provided	GBenign
Select item 1236835	NM_001288953.2(TTC7A):c.-13+273G>A	MCFD2, TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285754	NM_001288953.2(TTC7A):c.-12-153A>C	MCFD2, TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249964	NM_001288953.2(TTC7A):c.-12-120C>G	MCFD2, TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209045	NM_001288953.2(TTC7A):c.60C>G (p.Leu20=)	MCFD2, TTC7A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1280667	NM_001288953.2(TTC7A):c.82+116T>C	MCFD2, TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285856	NM_001288953.2(TTC7A):c.82+213A>G	MCFD2, TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271947	NM_001288953.2(TTC7A):c.83-9516T>C	MCFD2, TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268387	NM_001288953.2(TTC7A):c.83-9432A>G	LOC129933677, MCFD2 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274211	NM_020458.3(TTC7A):c.-354C>A	TTC7A, LOC129933677 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250809	NM_020458.4(TTC7A):c.-84C>A	MCFD2, TTC7A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 391837	NM_020458.4(TTC7A):c.59G>A (p.Cys20Tyr)	MCFD2, TTC7A (C20Y +1 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 1293929	NM_020458.4(TTC7A):c.184+28G>C	MCFD2, TTC7A	Single nucleotide variant (5 prime UTR variant +1 more)	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: 32