CAPN13[gene] and "single gene"[properties] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2367337	NM_144575.3(CAPN13):c.1979T>C (p.Met660Thr)	CAPN13 (M660T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408326	NM_144575.3(CAPN13):c.1967A>C (p.Tyr656Ser)	CAPN13 (Y656S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137075	NM_144575.3(CAPN13):c.1939A>G (p.Asn647Asp)	CAPN13 (N647D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363150	NM_144575.3(CAPN13):c.1935C>A (p.Phe645Leu)	CAPN13 (F645L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137074	NM_144575.3(CAPN13):c.1890C>G (p.Ser630Arg)	CAPN13 (S630R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389667	NM_144575.3(CAPN13):c.1870G>A (p.Gly624Ser)	CAPN13 (G624S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137071	NM_144575.3(CAPN13):c.1855T>C (p.Tyr619His)	CAPN13 (Y619H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263181	NM_144575.3(CAPN13):c.1840C>G (p.Leu614Val)	CAPN13 (L614V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523617	NM_144575.3(CAPN13):c.1803C>A (p.Phe601Leu)	CAPN13 (F601L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137070	NM_144575.3(CAPN13):c.1769C>T (p.Ser590Leu)	CAPN13 (S590L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259670	NM_144575.3(CAPN13):c.1724A>C (p.His575Pro)	CAPN13 (H575P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137069	NM_144575.3(CAPN13):c.1706G>A (p.Arg569His)	CAPN13 (R569H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137068	NM_144575.3(CAPN13):c.1691C>T (p.Ala564Val)	CAPN13 (A564V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301963	NM_144575.3(CAPN13):c.1555A>C (p.Thr519Pro)	CAPN13 (T519P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137067	NM_144575.3(CAPN13):c.1528G>C (p.Ala510Pro)	CAPN13 (A510P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263180	NM_144575.3(CAPN13):c.1514T>C (p.Ile505Thr)	CAPN13 (I505T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278489	NM_144575.3(CAPN13):c.1472G>T (p.Arg491Ile)	CAPN13 (R491I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137066	NM_144575.3(CAPN13):c.1457G>A (p.Ser486Asn)	CAPN13 (S486N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283922	NM_144575.3(CAPN13):c.1439G>C (p.Ser480Thr)	CAPN13 (S480T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281273	NM_144575.3(CAPN13):c.1379C>G (p.Ala460Gly)	CAPN13 (A460G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263183	NM_144575.3(CAPN13):c.1367A>G (p.Tyr456Cys)	CAPN13 (Y456C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263182	NM_144575.3(CAPN13):c.1356C>A (p.Ser452Arg)	CAPN13 (S452R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263184	NM_144575.3(CAPN13):c.1341G>A (p.Met447Ile)	CAPN13 (M447I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455864	NM_144575.3(CAPN13):c.1307G>T (p.Ser436Ile)	CAPN13 (S436I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234987	NM_144575.3(CAPN13):c.1286C>T (p.Ser429Leu)	CAPN13 (S429L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361613	NM_144575.3(CAPN13):c.1276T>C (p.Phe426Leu)	CAPN13 (F426L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137065	NM_144575.3(CAPN13):c.1267C>A (p.Pro423Thr)	CAPN13 (P423T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137064	NM_144575.3(CAPN13):c.1219G>A (p.Asp407Asn)	CAPN13 (D407N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3137063	NM_144575.3(CAPN13):c.1156G>A (p.Val386Met)	CAPN13 (V386M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330378	NM_144575.3(CAPN13):c.1148A>G (p.Asn383Ser)	CAPN13 (N383S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396886	NM_144575.3(CAPN13):c.1142G>C (p.Gly381Ala)	CAPN13 (G381A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263179	NM_144575.3(CAPN13):c.1133C>T (p.Pro378Leu)	CAPN13 (P378L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599163	NM_144575.3(CAPN13):c.1058G>A (p.Arg353Lys)	CAPN13 (R353K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2223226	NM_144575.3(CAPN13):c.842A>G (p.Glu281Gly)	CAPN13 (E281G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137083	NM_144575.3(CAPN13):c.835G>A (p.Glu279Lys)	CAPN13 (E279K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2477747	NM_144575.3(CAPN13):c.741T>A (p.Ser247Arg)	CAPN13 (S247R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137081	NM_144575.3(CAPN13):c.737T>G (p.Val246Gly)	CAPN13 (V246G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371779	NM_144575.3(CAPN13):c.719C>T (p.Ala240Val)	CAPN13 (A240V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363014	NM_144575.3(CAPN13):c.638T>G (p.Val213Gly)	CAPN13 (V213G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363013	NM_144575.3(CAPN13):c.619T>A (p.Ser207Thr)	CAPN13 (S207T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137080	NM_144575.3(CAPN13):c.595G>A (p.Val199Met)	CAPN13 (V199M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292150	NM_144575.3(CAPN13):c.479A>G (p.Gln160Arg)	CAPN13 (Q160R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209302	NM_144575.3(CAPN13):c.472C>T (p.Arg158Cys)	CAPN13 (R158C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263177	NM_144575.3(CAPN13):c.467G>A (p.Arg156His)	CAPN13 (R156H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3137079	NM_144575.3(CAPN13):c.431G>C (p.Arg144Pro)	CAPN13 (R144P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137078	NM_144575.3(CAPN13):c.430C>T (p.Arg144Cys)	CAPN13 (R144C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296807	NM_144575.3(CAPN13):c.418G>C (p.Val140Leu)	CAPN13 (V140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137076	NM_144575.3(CAPN13):c.395A>T (p.Gln132Leu)	CAPN13 (Q132L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602693	NM_144575.3(CAPN13):c.386G>A (p.Arg129Gln)	CAPN13 (R129Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336986	NM_144575.3(CAPN13):c.325A>G (p.Arg109Gly)	CAPN13 (R109G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371037	NM_144575.3(CAPN13):c.268G>T (p.Ala90Ser)	CAPN13 (A90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137072	NM_144575.3(CAPN13):c.186G>T (p.Trp62Cys)	CAPN13 (W62C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248302	NM_144575.3(CAPN13):c.167G>A (p.Arg56His)	CAPN13 (R56H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337147	NM_144575.3(CAPN13):c.143G>A (p.Gly48Asp)	CAPN13 (G48D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263178	NM_144575.3(CAPN13):c.98G>A (p.Arg33Gln)	CAPN13 (R33Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3137084	NM_144575.3(CAPN13):c.94G>C (p.Gly32Arg)	CAPN13 (G32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137082	NM_144575.3(CAPN13):c.74G>A (p.Arg25Gln)	CAPN13 (R25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211802	NM_144575.3(CAPN13):c.5C>T (p.Ala2Val)	CAPN13 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049372	NC_000002.12:g.30808092T>C	CAPN13	Single nucleotide variant	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 59