CAPN6[gene] and "single gene"[properties] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2305047	NM_014289.4(CAPN6):c.1555C>G (p.Gln519Glu)	CAPN6 (Q519E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2661203	NM_014289.4(CAPN6):c.1542G>A (p.Pro514=)	CAPN6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3263231	NM_014289.4(CAPN6):c.1474G>C (p.Val492Leu)	CAPN6 (V492L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410734	NM_014289.4(CAPN6):c.1439G>C (p.Ser480Thr)	CAPN6 (S480T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777822	NM_014289.4(CAPN6):c.1416C>T (p.Thr472=)	CAPN6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2540667	NM_014289.4(CAPN6):c.1377C>G (p.Ser459Arg)	CAPN6 (S459R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137170	NM_014289.4(CAPN6):c.1352T>C (p.Ile451Thr)	CAPN6 (I451T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263229	NM_014289.4(CAPN6):c.1340C>A (p.Thr447Asn)	CAPN6 (T447N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315650	NM_014289.4(CAPN6):c.1340C>T (p.Thr447Ile)	CAPN6 (T447I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535064	NM_014289.4(CAPN6):c.1299A>C (p.Lys433Asn)	CAPN6 (K433N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300018	NM_014289.4(CAPN6):c.1256A>G (p.Tyr419Cys)	CAPN6 (Y419C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1225678	NM_014289.4(CAPN6):c.1158+128A>T	CAPN6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2483731	NM_014289.4(CAPN6):c.1022G>A (p.Arg341His)	CAPN6 (R341H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1250758	NM_014289.4(CAPN6):c.894-28dup	CAPN6	Duplication (intron variant)	not provided	GBenign
Select item 1221767	NM_014289.4(CAPN6):c.894-15del	CAPN6	Deletion (intron variant)	not provided	GBenign
Select item 1288617	NM_014289.4(CAPN6):c.829G>C (p.Val277Leu)	CAPN6 (V277L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1224551	NM_014289.4(CAPN6):c.700-159T>C	CAPN6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265568	NM_014289.4(CAPN6):c.699+25C>T	CAPN6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3263232	NM_014289.4(CAPN6):c.667A>G (p.Thr223Ala)	CAPN6 (T223A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525454	NM_014289.4(CAPN6):c.638A>T (p.Lys213Met)	CAPN6 (K213M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472188	NM_014289.4(CAPN6):c.547A>T (p.Thr183Ser)	CAPN6 (T183S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1258216	NM_014289.4(CAPN6):c.351C>T (p.Tyr117=)	CAPN6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3137172	NM_014289.4(CAPN6):c.344A>C (p.Glu115Ala)	CAPN6 (E115A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474702	NM_014289.4(CAPN6):c.340A>G (p.Thr114Ala)	CAPN6 (T114A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137171	NM_014289.4(CAPN6):c.298A>G (p.Thr100Ala)	CAPN6 (T100A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1280648	NM_014289.4(CAPN6):c.297+86C>T	CAPN6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3263230	NM_014289.4(CAPN6):c.211C>A (p.His71Asn)	CAPN6 (H71N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1233680	NM_014289.4(CAPN6):c.166-237G>C	CAPN6	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 28