"Ambry Genetics"[submitter] AND "KLC2-AS1"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2254433	NM_001318734.2(KLC2):c.263T>C (p.Val88Ala)	KLC2, KLC2-AS1 (V88A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288786	NM_001318734.2(KLC2):c.311A>G (p.Gln104Arg)	KLC2, KLC2-AS1 (Q104R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2609318	NM_001318734.2(KLC2):c.369T>G (p.Ser123Arg)	KLC2, KLC2-AS1 (S123R)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GUncertain significance
Select item 3288783	NM_001318734.2(KLC2):c.379G>A (p.Val127Met)	KLC2-AS1, KLC2 (V127M)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2550376	NM_001318734.2(KLC2):c.431G>A (p.Arg144His)	KLC2, KLC2-AS1 (R144H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288785	NM_001318734.2(KLC2):c.496G>A (p.Asp166Asn)	KLC2, KLC2-AS1 (D89N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288788	NM_001318734.2(KLC2):c.516T>G (p.Asp172Glu)	KLC2, KLC2-AS1 (D172E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2335594	NM_001318734.2(KLC2):c.589C>T (p.Arg197Trp)	KLC2, KLC2-AS1 (R120W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220756	NM_001318734.2(KLC2):c.625G>A (p.Ala209Thr)	KLC2, KLC2-AS1 (A209T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1450651	NM_001318734.2(KLC2):c.698G>T (p.Gly233Val)	KLC2, KLC2-AS1 (G233V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2402610	NM_001318734.2(KLC2):c.703G>A (p.Asp235Asn)	KLC2, KLC2-AS1 (D158N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288784	NM_001318734.2(KLC2):c.776C>T (p.Ala259Val)	KLC2, KLC2-AS1 (A182V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492905	NM_001318734.2(KLC2):c.1042C>T (p.Arg348Trp)	KLC2, KLC2-AS1 (R348W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219516	NM_001318734.2(KLC2):c.1066A>G (p.Thr356Ala)	KLC2, KLC2-AS1 (T356A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510626	NM_001318734.2(KLC2):c.1093G>T (p.Val365Leu)	KLC2, KLC2-AS1 (V288L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115215	NM_001318734.2(KLC2):c.1228C>G (p.Pro410Ala)	KLC2, KLC2-AS1 (P410A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3017943	NM_001318734.2(KLC2):c.1252C>T (p.Arg418Trp)	KLC2, KLC2-AS1 (R418W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1371659	NM_001318734.2(KLC2):c.1253G>A (p.Arg418Gln)	KLC2, KLC2-AS1 (R341Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2072030	NM_001318734.2(KLC2):c.1285G>A (p.Ala429Thr)	KLC2, KLC2-AS1 (A352T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3115216	NM_001318734.2(KLC2):c.1357C>T (p.Arg453Cys)	KLC2-AS1, KLC2 (R453C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3115217	NM_001318734.2(KLC2):c.1358G>A (p.Arg453His)	KLC2, KLC2-AS1 (R376H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 21