Related gene-specific medical variations for Gene (Select 126862696) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585069	NM_001378183.1(PIEZO2):c.2882G>A (p.Trp961Ter)	LOC126862696, PIEZO2 (W936* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis, distal, with impaired proprioception and touch	GLikely pathogenic
Select item 2405057	NM_001378183.1(PIEZO2):c.2911G>A (p.Val971Ile)	LOC126862696, PIEZO2 (V946I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1918790	NM_001378183.1(PIEZO2):c.2938G>T (p.Val980Leu)	LOC126862696, PIEZO2 (V980L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1281715	NM_001378183.1(PIEZO2):c.2786-39A>T	LOC126862696, PIEZO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281165	NM_001378183.1(PIEZO2):c.2946+301A>G	LOC126862696, PIEZO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279776	NM_001378183.1(PIEZO2):c.2946+244A>G	LOC126862696, PIEZO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261379	NM_001378183.1(PIEZO2):c.2786-284GAAG[3]	LOC126862696, PIEZO2	Microsatellite (intron variant)	not provided	GBenign
Select item 1261321	NM_001378183.1(PIEZO2):c.2786-284GAAG[4]	LOC126862696, PIEZO2	Microsatellite (intron variant)	not provided	GBenign
Select item 1246750	NM_001378183.1(PIEZO2):c.2946+309A>G	LOC126862696, PIEZO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237654	NM_001378183.1(PIEZO2):c.2786-189A>T	LOC126862696, PIEZO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201593	NM_001378183.1(PIEZO2):c.2786-130G>T	LOC126862696, PIEZO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188261	NM_001378183.1(PIEZO2):c.2946+33A>G	LOC126862696, PIEZO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 781356	NM_001378183.1(PIEZO2):c.2793G>A (p.Arg931=)	LOC126862696, PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign