Related gene-specific medical variations for Gene (Select 118429) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065592	NM_058172.6(ANTXR2):c.390A>T (p.Gln130His)	ANTXR2 (Q130H +1 more)	Single nucleotide variant (missense variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 3065591	NM_058172.6(ANTXR2):c.396G>T (p.Gln132His)	ANTXR2 (Q132H +1 more)	Single nucleotide variant (missense variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 2434220	NM_058172.6(ANTXR2):c.297-1G>A	ANTXR2	Single nucleotide variant (splice acceptor variant)	Hyaline fibromatosis syndrome	GLikely pathogenic
Select item 1341142	GRCh37/hg19 4q21.21(chr4:80938743-81054790)x1	ANTXR2	Copy number loss	not provided	GUncertain significance
Select item 1323915	NM_058172.6(ANTXR2):c.297-2del	ANTXR2	Deletion (splice acceptor variant)	Hyaline fibromatosis syndrome	GLikely pathogenic
Select item 1220740	NM_001286780.2(ANTXR2):c.-122T>A	ANTXR2, LOC129992739	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 974886	NM_058172.6(ANTXR2):c.652T>C (p.Cys218Arg)	ANTXR2 (C141R +1 more)	Single nucleotide variant (missense variant)	Hyaline fibromatosis syndrome	GPathogenic
Select item 804442	NM_058172.6(ANTXR2):c.1190dup (p.Gly397_Asp398insTer)	ANTXR2	Duplication (frameshift variant)	Hyaline fibromatosis syndrome	GLikely pathogenic
Select item 349895	NM_058172.6(ANTXR2):c.-366G>C	ANTXR2, LOC129992738	Single nucleotide variant (5 prime UTR variant +1 more)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 349894	NM_058172.6(ANTXR2):c.-319C>G	ANTXR2, LOC129992738	Single nucleotide variant (5 prime UTR variant +1 more)	Hyaline fibromatosis syndrome +1 more	GBenign
Select item 349890	NM_058172.6(ANTXR2):c.-82C>A	LOC129992737, ANTXR2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 349889	NM_058172.6(ANTXR2):c.-5G>A	LOC129992737, ANTXR2	Single nucleotide variant (5 prime UTR variant +1 more)	Hyaline fibromatosis syndrome	GUncertain significance