"Ambry Genetics"[submitter] AND "HSPB2"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2524688	NM_001541.4(HSPB2):c.10C>A (p.Arg4Ser)	CRYAB, HSPB2 +1 more (R4S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2285303	NM_001541.4(HSPB2):c.22C>T (p.His8Tyr)	CRYAB, HSPB2 +1 more (H8Y)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2375807	NM_001541.4(HSPB2):c.23A>G (p.His8Arg)	CRYAB, HSPB2 +1 more (H8R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3284958	NM_001541.4(HSPB2):c.160G>A (p.Ala54Thr)	CRYAB, HSPB2 +1 more (A54T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3284959	NM_001541.4(HSPB2):c.280G>A (p.Asp94Asn)	CRYAB, HSPB2 +1 more (D94N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303449	NM_001541.4(HSPB2):c.304C>T (p.Arg102Trp)	CRYAB, HSPB2 +1 more (R102W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236174	NM_001541.4(HSPB2):c.337G>A (p.Val113Met)	CRYAB, HSPB2 +1 more (V113M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286826	NM_001541.4(HSPB2):c.455A>G (p.His152Arg)	CRYAB, HSPB2 +1 more (H152R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356834	NM_001541.4(HSPB2):c.532G>A (p.Ala178Thr)	CRYAB, HSPB2 +1 more (A178T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance