Related gene-specific medical variations for Gene (Select 9883) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3422923	NM_001387691.1(POM121):c.987C>A (p.Asp329Glu)	LOC126860071, POM121 (D329E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3422919	NM_001387691.1(POM121):c.996C>A (p.Phe332Leu)	LOC126860071, POM121 (F332L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308869	NM_001387691.1(POM121):c.907G>A (p.Ala303Thr)	LOC126860071, POM121 (A303T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216652	NM_001387691.1(POM121):c.815C>G (p.Thr272Ser)	LOC126860071, POM121 (T7S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216645	NM_001387691.1(POM121):c.809C>G (p.Pro270Arg)	LOC126860071, POM121 (P270R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358993	NM_001387691.1(POM121):c.1002T>A (p.Asp334Glu)	LOC126860071, POM121 (D334E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299228	NM_001387691.1(POM121):c.846T>G (p.Phe282Leu)	LOC126860071, POM121 (F282L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2294949	NM_001387691.1(POM121):c.832C>T (p.Pro278Ser)	LOC126860071, POM121 (P13S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294905	NM_001387691.1(POM121):c.1019G>T (p.Arg340Ile)	LOC126860071, POM121 (R340I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277319	NM_001387691.1(POM121):c.982G>A (p.Glu328Lys)	LOC126860071, POM121 (E328K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226037	NM_001387691.1(POM121):c.919T>C (p.Cys307Arg)	LOC126860071, POM121 (C307R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance