Related gene-specific medical variations for Gene (Select 51056) - ClinVar - NCBI

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Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3117801	NM_015907.3(LAP3):c.986T>C (p.Ile329Thr)	LAP3, MED28-DT (I329T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117795	NM_015907.3(LAP3):c.1382C>A (p.Ala461Glu)	LAP3, MED28-DT (A461E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117794	NM_015907.3(LAP3):c.1245G>T (p.Trp415Cys)	LAP3, MED28-DT (W415C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117793	NM_015907.3(LAP3):c.1160T>A (p.Leu387His)	LAP3, MED28-DT (L387H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117792	NM_015907.3(LAP3):c.1151A>C (p.Lys384Thr)	LAP3, MED28-DT (K384T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117790	NM_015907.3(LAP3):c.10C>A (p.Leu4Met)	LAP3, LOC129992307 (L4M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598279	NM_015907.3(LAP3):c.1378G>A (p.Gly460Arg)	LAP3, MED28-DT (G460R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560084	NM_015907.3(LAP3):c.736G>A (p.Gly246Arg)	LAP3, MED28-DT (G246R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454427	NM_015907.3(LAP3):c.1527G>T (p.Glu509Asp)	LAP3, MED28-DT (E509D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394299	NM_015907.3(LAP3):c.536G>A (p.Gly179Glu)	LAP3, LOC126806994 (G179E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379992	NM_015907.3(LAP3):c.1244G>C (p.Trp415Ser)	LAP3, MED28-DT (W415S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373746	NM_015907.3(LAP3):c.521C>T (p.Ser174Leu)	LAP3, LOC126806994 (S174L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352306	NM_015907.3(LAP3):c.730G>A (p.Ala244Thr)	LAP3, MED28-DT (A244T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273407	NM_015907.3(LAP3):c.1181G>A (p.Gly394Asp)	LAP3, MED28-DT (G394D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270547	NM_015907.3(LAP3):c.95T>G (p.Met32Arg)	LAP3, LOC129992308 (M32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216630	NM_015907.3(LAP3):c.1021G>A (p.Gly341Ser)	LAP3, MED28-DT (G341S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance