726[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 1007693	NM_004055.5(CAPN5):c.8C>T (p.Ser3Leu)	CAPN5 (S3L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1545774	NM_004055.5(CAPN5):c.9G>A (p.Ser3=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1018527	NM_004055.5(CAPN5):c.13G>A (p.Val5Met)	CAPN5 (V5M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121328	NM_004055.5(CAPN5):c.18G>A (p.Lys6=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1168849	NM_004055.5(CAPN5):c.21C>G (p.Pro7=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1013862	NM_004055.5(CAPN5):c.23A>G (p.Tyr8Cys)	CAPN5 (Y8C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3137166	NM_004055.5(CAPN5):c.28G>T (p.Asp10Tyr)	CAPN5 (D10Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2038127	NM_004055.5(CAPN5):c.28G>A (p.Asp10Asn)	CAPN5 (D10N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1951439	NM_004055.5(CAPN5):c.29A>G (p.Asp10Gly)	CAPN5 (D10G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918022	NM_004055.5(CAPN5):c.30C>T (p.Asp10=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 259224	NM_004055.5(CAPN5):c.30C>G (p.Asp10Glu)	CAPN5 (D10E)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1160034	NM_004055.5(CAPN5):c.36C>T (p.Asn12=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3263225	NM_004055.5(CAPN5):c.37T>C (p.Tyr13His)	CAPN5 (Y13H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1568412	NM_004055.5(CAPN5):c.51G>A (p.Arg17=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 501411	NM_004055.5(CAPN5):c.52C>T (p.Arg18Trp)	CAPN5 (R18W)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 1167001	NM_004055.5(CAPN5):c.53G>A (p.Arg18Gln)	CAPN5 (R18Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2720548	NM_004055.5(CAPN5):c.57dup (p.Cys20fs)	CAPN5 (C20fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1082418	NM_004055.5(CAPN5):c.57C>T (p.Asp19=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1410320	NM_004055.5(CAPN5):c.61C>T (p.Arg21Trp)	CAPN5 (R21W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1064369	NM_004055.5(CAPN5):c.64C>T (p.Arg22Cys)	CAPN5 (R22C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1040199	NM_004055.5(CAPN5):c.65G>A (p.Arg22His)	CAPN5 (R22H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 957520	NM_004055.5(CAPN5):c.67A>T (p.Arg23Trp)	CAPN5 (R23W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1047623	NM_004055.5(CAPN5):c.70A>G (p.Lys24Glu)	CAPN5 (K24E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 855352	NM_004055.5(CAPN5):c.74T>C (p.Val25Ala)	CAPN5 (V25A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2826552	NM_004055.5(CAPN5):c.76C>T (p.Leu26Phe)	CAPN5 (L26F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1116005	NM_004055.5(CAPN5):c.78C>T (p.Leu26=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1557869	NM_004055.5(CAPN5):c.81C>T (p.Phe27=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 501412	NM_004055.5(CAPN5):c.82G>A (p.Glu28Lys)	CAPN5 (E28K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754442	NM_004055.5(CAPN5):c.91dup (p.Leu31fs)	CAPN5 (L31fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1655979	NM_004055.5(CAPN5):c.87C>T (p.Asp29=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1466241	NM_004055.5(CAPN5):c.91del (p.Leu31fs)	CAPN5 (L31fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2919523	NM_004055.5(CAPN5):c.89C>T (p.Pro30Leu)	CAPN5 (P30L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1414741	NM_004055.5(CAPN5):c.90C>T (p.Pro30=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783637	NM_004055.5(CAPN5):c.90C>A (p.Pro30=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1549764	NM_004055.5(CAPN5):c.93C>T (p.Leu31=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2047488	NM_004055.5(CAPN5):c.99C>T (p.Pro33=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 941719	NM_004055.5(CAPN5):c.100G>A (p.Ala34Thr)	CAPN5 (A34T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 848814	NM_004055.5(CAPN5):c.101C>T (p.Ala34Val)	CAPN5 (A34V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1587790	NM_004055.5(CAPN5):c.102C>T (p.Ala34=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2487824	NM_004055.5(CAPN5):c.103A>G (p.Thr35Ala)	CAPN5 (T35A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1383780	NM_004055.5(CAPN5):c.104del (p.Thr35fs)	CAPN5 (T35fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3012453	NM_004055.5(CAPN5):c.107A>G (p.Asp36Gly)	CAPN5 (D36G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1079088	NM_004055.5(CAPN5):c.108C>T (p.Asp36=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1359306	NM_004055.5(CAPN5):c.109G>A (p.Asp37Asn)	CAPN5 (D37N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 866807	NM_004055.5(CAPN5):c.121_123del (p.Tyr41del)	CAPN5 (Y41del)	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1534450	NM_004055.5(CAPN5):c.123T>C (p.Tyr41=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1514959	NM_004055.5(CAPN5):c.125dup (p.Thr44fs)	CAPN5 (T44fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2994396	NM_004055.5(CAPN5):c.129C>T (p.Gly43=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2552868	NM_004055.5(CAPN5):c.130A>C (p.Thr44Pro)	CAPN5 (T44P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1462197	NM_004055.5(CAPN5):c.131C>T (p.Thr44Met)	CAPN5 (T44M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1640391	NM_004055.5(CAPN5):c.132G>A (p.Thr44=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1154179	NM_004055.5(CAPN5):c.132G>T (p.Thr44=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 847565	NM_004055.5(CAPN5):c.133C>T (p.Pro45Ser)	CAPN5 (P45S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 951695	NM_004055.5(CAPN5):c.134C>T (p.Pro45Leu)	CAPN5 (P45L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1142397	NM_004055.5(CAPN5):c.135G>A (p.Pro45=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1010811	NM_004055.5(CAPN5):c.137G>A (p.Gly46Glu)	CAPN5 (G46E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1634745	NM_004055.5(CAPN5):c.141C>T (p.Pro47=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018006	NM_004055.5(CAPN5):c.142G>A (p.Ala48Thr)	CAPN5 (A48T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1169357	NM_004055.5(CAPN5):c.145G>A (p.Val49Ile)	CAPN5 (V49I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1582869	NM_004055.5(CAPN5):c.150G>A (p.Arg50=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 954355	NM_004055.5(CAPN5):c.152G>A (p.Trp51Ter)	CAPN5 (W51*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1413870	NM_004055.5(CAPN5):c.155A>G (p.Lys52Arg)	CAPN5 (K52R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1011940	NM_004055.5(CAPN5):c.156G>T (p.Lys52Asn)	CAPN5 (K52N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1395718	NM_004055.5(CAPN5):c.157C>T (p.Arg53Ter)	CAPN5 (R53*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 934840	NM_004055.5(CAPN5):c.158G>A (p.Arg53Gln)	CAPN5 (R53Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2995522	NM_004055.5(CAPN5):c.160C>T (p.Pro54Ser)	CAPN5 (P54S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310561	NM_004055.5(CAPN5):c.165+5del	CAPN5	Deletion (intron variant)	not provided	GUncertain significance
Select item 1581261	NM_004055.5(CAPN5):c.165+10_165+13dup	CAPN5	Duplication (intron variant)	not provided	GLikely benign
Select item 2642176	NM_004055.5(CAPN5):c.165+2904C>T	CAPN5 (S60L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1968654	NM_004055.5(CAPN5):c.166-19C>T	CAPN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1619397	NM_004055.5(CAPN5):c.166-14C>T	CAPN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631577	NM_004055.5(CAPN5):c.166-13G>A	CAPN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1533163	NM_004055.5(CAPN5):c.166-6C>T	CAPN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979526	NM_004055.5(CAPN5):c.166-5C>T	CAPN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1164846	NM_004055.5(CAPN5):c.166-4G>A	CAPN5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1164470	NM_004055.5(CAPN5):c.167G>A (p.Gly56Asp)	CAPN5 (G56D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1953868	NM_004055.5(CAPN5):c.168C>T (p.Gly56=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1611364	NM_004055.5(CAPN5):c.171C>T (p.Ile57=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1349324	NM_004055.5(CAPN5):c.174C>T (p.Cys58=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 970472	NM_004055.5(CAPN5):c.175G>A (p.Glu59Lys)	CAPN5 (E59K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1051865	NM_004055.5(CAPN5):c.179A>G (p.Asp60Gly)	CAPN5 (D60G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2013690	NM_004055.5(CAPN5):c.184del (p.Arg62fs)	CAPN5 (R62fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 838836	NM_004055.5(CAPN5):c.180C>A (p.Asp60Glu)	CAPN5 (D60E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2487009	NM_004055.5(CAPN5):c.181C>G (p.Pro61Ala)	CAPN5 (P61A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1714972	NM_004055.5(CAPN5):c.182C>T (p.Pro61Leu)	CAPN5 (P61L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1563185	NM_004055.5(CAPN5):c.183C>T (p.Pro61=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 971258	NM_004055.5(CAPN5):c.185G>A (p.Arg62His)	CAPN5 (R62H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2014168	NM_004055.5(CAPN5):c.186C>T (p.Arg62=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835620	NM_004055.5(CAPN5):c.195G>A (p.Val65=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 837917	NM_004055.5(CAPN5):c.197A>G (p.Asp66Gly)	CAPN5 (D66G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1461510	NM_004055.5(CAPN5):c.201C>T (p.Gly67=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1059694	NM_004055.5(CAPN5):c.203T>G (p.Ile68Ser)	CAPN5 (I68S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834879	NM_004055.5(CAPN5):c.209C>T (p.Ser70Phe)	CAPN5 (S110F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1169504	NM_004055.5(CAPN5):c.213C>T (p.His71=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1142630	NM_004055.5(CAPN5):c.214G>A (p.Asp72Asn)	CAPN5 (D72N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1355460	NM_004055.5(CAPN5):c.215A>G (p.Asp72Gly)	CAPN5 (D72G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1656778	NM_004055.5(CAPN5):c.219G>A (p.Leu73=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2129586	NM_004055.5(CAPN5):c.222C>T (p.His74=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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