"GeneDx"[submitter] AND "GDF9"[gene] - ClinVar

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

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 2663626	NM_005260.7(GDF9):c.1353C>T (p.Cys451=)	GDF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 137459	NM_005260.7(GDF9):c.546G>A (p.Glu182=)	GDF9	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 1232502	NM_005260.7(GDF9):c.447C>T (p.Thr149=)	GDF9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1232056	NM_005260.7(GDF9):c.398-39G>C	GDF9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251291	NM_005260.7(GDF9):c.169G>T (p.Asp57Tyr)	GDF9 (D57Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 380273	NM_005260.7(GDF9):c.-32A>G	GDF9	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 1293233	NM_005260.7(GDF9):c.-103C>A	GDF9	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 676789	NM_014402.4(UQCRQ):c.-139T>C	GDF9, LOC126807509 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1240834	NC_000005.10:g.132866569A>G	GDF9, LOC126807509 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign