Related gene-specific medical variations for Gene (Select 29966) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3171654	NM_001083893.2(STRN3):c.233G>T (p.Arg78Leu)	AP4S1, LOC130055445 +1 more (R78L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615059	NM_001083893.2(STRN3):c.179C>G (p.Pro60Arg)	AP4S1, LOC130055445 +1 more (P60R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590822	NM_001083893.2(STRN3):c.130C>T (p.Pro44Ser)	AP4S1, LOC130055445 +1 more (P44S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546223	NM_001083893.2(STRN3):c.2350A>G (p.Ile784Val)	COCH, STRN3 (I700V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545154	NM_001083893.2(STRN3):c.106G>A (p.Gly36Arg)	AP4S1, LOC130055445 +1 more (G36R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532256	NM_001083893.2(STRN3):c.85G>A (p.Gly29Ser)	AP4S1, LOC130055445 +1 more (G29S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2531781	NM_001083893.2(STRN3):c.98G>A (p.Gly33Glu)	AP4S1, LOC130055445 +1 more (G33E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494918	NM_001083893.2(STRN3):c.2389G>A (p.Val797Ile)	COCH, STRN3 (V713I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253337	NM_001083893.2(STRN3):c.205C>G (p.Leu69Val)	AP4S1, LOC130055445 +1 more (L69V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251751	NM_001083893.2(STRN3):c.182A>G (p.Gln61Arg)	AP4S1, LOC130055445 +1 more (Q61R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 380897	NM_001083893.2(STRN3):c.282+122C>T	AP4S1, STRN3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign