Related gene-specific medical variations for Gene (Select 168455) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3139342	NM_175884.6(CCDC71L):c.443G>A (p.Arg148Gln)	CCDC71L, LOC129999115 (R148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139341	NM_175884.6(CCDC71L):c.413G>A (p.Arg138Gln)	CCDC71L, LOC129999115 (R138Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139339	NM_175884.6(CCDC71L):c.367C>T (p.Arg123Trp)	CCDC71L, LOC129999115 (R123W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139338	NM_175884.6(CCDC71L):c.362C>G (p.Ala121Gly)	CCDC71L, LOC129999115 (A121G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596526	NM_175884.6(CCDC71L):c.409G>A (p.Ala137Thr)	CCDC71L, LOC129999115 (A137T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557521	NM_175884.6(CCDC71L):c.416C>T (p.Ala139Val)	CCDC71L, LOC129999115 (A139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552136	NM_175884.6(CCDC71L):c.560C>G (p.Thr187Arg)	CCDC71L, LOC129999115 (T187R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525865	NM_175884.6(CCDC71L):c.484C>G (p.Pro162Ala)	CCDC71L, LOC129999115 (P162A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467565	NM_175884.6(CCDC71L):c.347C>T (p.Thr116Ile)	CCDC71L, LOC129999115 (T116I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457142	NM_175884.6(CCDC71L):c.424G>T (p.Ala142Ser)	CCDC71L, LOC129999115 (A142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401630	NM_175884.6(CCDC71L):c.353G>A (p.Arg118His)	CCDC71L, LOC129999115 (R118H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346134	NM_175884.6(CCDC71L):c.340C>T (p.Pro114Ser)	CCDC71L, LOC129999115 (P114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307101	NM_175884.6(CCDC71L):c.451C>T (p.Pro151Ser)	CCDC71L, LOC129999115 (P151S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284334	NM_175884.6(CCDC71L):c.330C>A (p.Asp110Glu)	CCDC71L, LOC129999115 (D110E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 221313	NM_175884.6(CCDC71L):c.478A>C (p.Ser160Arg)	CCDC71L, LOC129999115 (S160R)	Single nucleotide variant (missense variant)	Breast ductal adenocarcinoma	GUncertain significance