Related gene-specific medical variations for Gene (Select 83716) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269547	NM_031476.4(CRISPLD2):c.1243G>T (p.Ala415Ser)	CRISPLD2, LOC126862429 (A415S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043906	NM_031476.4(CRISPLD2):c.1305+7A>C	CRISPLD2, LOC126862429	Single nucleotide variant (intron variant)	CRISPLD2-related disorder	GLikely benign
Select item 2646931	NM_031476.4(CRISPLD2):c.1305+27A>G	CRISPLD2, LOC126862429	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2646930	NM_031476.4(CRISPLD2):c.1305+21A>G	CRISPLD2, LOC126862429	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2466299	NM_031476.4(CRISPLD2):c.1258G>A (p.Glu420Lys)	CRISPLD2, LOC126862429 (E420K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526542	GRCh37/hg19 16q24.1(chr16:84819949-84937258)	CRISPLD2	Copy number loss	not specified	GUncertain significance
Select item 783066	NM_031476.4(CRISPLD2):c.1292A>G (p.Asn431Ser)	CRISPLD2, LOC126862429 (N431S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 733927	NM_031476.4(CRISPLD2):c.1301C>G (p.Ala434Gly)	CRISPLD2, LOC126862429 (A434G)	Single nucleotide variant (missense variant)	not provided	GBenign

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