Related gene-specific medical variations for Gene (Select 91319) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271650	NM_001002862.3(DERL3):c.352T>G (p.Phe118Val)	DERL3, SMARCB1 (F118V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3081787	NM_001002862.3(DERL3):c.379A>G (p.Met127Val)	DERL3, SMARCB1 (M127V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2652975	NM_001002862.3(DERL3):c.615-17C>T	DERL3, SMARCB1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2384782	NM_001002862.3(DERL3):c.425A>G (p.Asn142Ser)	DERL3, SMARCB1 (N142S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2342129	NM_001002862.3(DERL3):c.602C>G (p.Thr201Ser)	DERL3, SMARCB1 (T201S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2222416	NM_001002862.3(DERL3):c.562G>A (p.Val188Ile)	DERL3, SMARCB1 (V188I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2222336	NM_001002862.3(DERL3):c.477G>A (p.Met159Ile)	DERL3, SMARCB1 (M159I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1711548	NM_001002862.3(DERL3):c.*5C>T	DERL3, SMARCB1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1298887	NM_001002862.3(DERL3):c.531G>A (p.Ala177=)	DERL3, SMARCB1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1204849	NM_001002862.3(DERL3):c.*2327A>C	DERL3, SMARCB1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign