WHR1[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3450623	NM_032454.1(WHR1):c.92C>T (p.Thr31Met)	DXO, WHR1 (T31M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2213639	NM_032454.1(WHR1):c.112G>A (p.Val38Met)	DXO, WHR1 (V38M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2656433	NM_004197.1(WHR1):c.125C>T (p.Ala42Val)	DXO, WHR1 (A42V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3450622	NM_032454.1(WHR1):c.148C>G (p.Pro50Ala)	WHR1 (P50A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171293	NM_032454.1(WHR1):c.166T>G (p.Trp56Gly)	WHR1 (W56G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3450628	NM_032454.1(WHR1):c.175C>G (p.Pro59Ala)	WHR1 (P59A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323285	NM_032454.1(WHR1):c.200G>C (p.Arg67Pro)	WHR1 (R67P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3450627	NM_032454.1(WHR1):c.230C>G (p.Pro77Arg)	WHR1 (P77R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323286	NM_032454.1(WHR1):c.236A>G (p.Glu79Gly)	WHR1 (E79G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263166	NM_032454.1(WHR1):c.238A>T (p.Thr80Ser)	WHR1 (T80S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3450625	NM_004197.2(WHR1):c.33G>T (p.Glu11Asp)	WHR1 (E11D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214408	NM_004197.2(WHR1):c.38T>C (p.Phe13Ser)	WHR1 (F80S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347892	NM_004197.2(WHR1):c.343G>T (p.Ala115Ser)	WHR1 (A229S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3450626	NM_004197.2(WHR1):c.644G>A (p.Arg215Gln)	WHR1 (R215Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance