Related gene-specific medical variations for Gene (Select 110599588) - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2651759	NM_019048.4(ASNSD1):c.-226C>T	ASDURF, ASNSD1 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2455765	NM_019048.4(ASNSD1):c.157G>A (p.Val53Ile)	ASDURF, ASNSD1 (V53I)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206572	NM_019048.4(ASNSD1):c.113T>C (p.Leu38Ser)	ASNSD1, ASDURF (L38S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance

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