Related gene-specific medical variations for Gene (Select 80731) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685863	GRCh37/hg19 2q22.1(chr2:137489170-137751231)x3	THSD7B	Copy number gain	not provided	GUncertain significance
Select item 2684731	GRCh37/hg19 2q22.1(chr2:138388665-138461937)x1	THSD7B	Copy number loss	not provided	GUncertain significance
Select item 1808691	GRCh37/hg19 2q22.1(chr2:138298575-138390341)x1	THSD7B	Copy number loss	not provided	GUncertain significance
Select item 1340404	GRCh37/hg19 2q22.1(chr2:137880785-137930864)x1	THSD7B	Copy number loss	not provided	GLikely benign
Select item 814310	GRCh37/hg19 2q22.1(chr2:137728921-137799869)x1	THSD7B	Copy number loss	not provided	GLikely benign
Select item 226140	GRCh37/hg19 2q22.1(chr2:137827978-138371164)	THSD7B	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 154880	GRCh38/hg38 2q22.1(chr2:136696774-137028271)x1	THSD7B	Copy number loss	See cases	GLikely benign

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