Related gene-specific medical variations for Gene (Select 362) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3128144	NM_001651.4(AQP5):c.73G>A (p.Val25Ile)	AQP5, AQP5-AS1 (V25I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3026115	NM_001651.4(AQP5):c.329C>T (p.Pro110Leu)	AQP5, AQP5-AS1 (P110L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003280	NM_001651.4(AQP5):c.33C>A (p.Leu11=)	AQP5, AQP5-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903493	NM_001651.4(AQP5):c.363+20_363+21dup	AQP5, AQP5-AS1	Duplication (intron variant)	not provided	GBenign
Select item 2723672	NM_001651.4(AQP5):c.193G>A (p.Gly65Ser)	AQP5, AQP5-AS1 (G65S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2608648	NM_001651.4(AQP5):c.355G>A (p.Val119Ile)	AQP5, AQP5-AS1 (V119I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2329582	NM_001651.4(AQP5):c.257G>A (p.Arg86Gln)	AQP5, AQP5-AS1 (R86Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221702	NM_001651.4(AQP5):c.256C>T (p.Arg86Trp)	AQP5, AQP5-AS1 (R86W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1987458	NM_001651.4(AQP5):c.363+18_363+21del	AQP5-AS1, AQP5	Deletion (intron variant)	not provided	GBenign
Select item 1645185	NM_001651.4(AQP5):c.4AAG[1] (p.Lys3del)	AQP5, AQP5-AS1 (K3del)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GLikely benign
Select item 1598957	NM_001651.4(AQP5):c.363+21dup	AQP5, AQP5-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1578048	NM_001651.4(AQP5):c.363+21del	AQP5, AQP5-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1474842	NM_001651.4(AQP5):c.335A>G (p.Asn112Ser)	AQP5, AQP5-AS1 (N112S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1283355	NM_001651.4(AQP5):c.363+19_363+21del	AQP5, AQP5-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1221931	NM_001651.4(AQP5):c.363+14G>A	AQP5, AQP5-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1049481	NM_001651.4(AQP5):c.88G>A (p.Gly30Ser)	AQP5, AQP5-AS1 (G30S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 731677	NM_001651.4(AQP5):c.363+6T>G	AQP5, AQP5-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 65480	NM_001651.4(AQP5):c.134T>G (p.Ile45Ser)	AQP5, AQP5-AS1 (I45S)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, Bothnian type	GPathogenic
Select item 65478	NM_001651.4(AQP5):c.113C>A (p.Ala38Glu)	AQP5, AQP5-AS1 (A38E)	Single nucleotide variant (missense variant)	not provided	GPathogenic