ClinVar for Gene (Select 64837) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3347654	NM_001318734.2(KLC2):c.1429C>T (p.Arg477Cys)	KLC2 (R400C +1 more)	Single nucleotide variant (missense variant)	KLC2-related disorder	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 3288787	NM_001318734.2(KLC2):c.1840C>G (p.Leu614Val)	KLC2 (L537V +1 more)	Single nucleotide variant (missense variant)	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 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 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 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 3288782	NM_001318734.2(KLC2):c.1850G>A (p.Arg617Gln)	KLC2 (R540Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115219	NM_001318734.2(KLC2):c.220G>A (p.Glu74Lys)	KLC2 (E74K)	Single nucleotide variant (missense variant)	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
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 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 3067594	NM_001318734.2(KLC2):c.120T>C (p.Ala40=)	KLC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3050675	NM_001318734.2(KLC2):c.1161C>T (p.Thr387=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant)	KLC2-related disorder	GLikely benign
Select item 3022024	NM_001318734.2(KLC2):c.1785+7G>A	KLC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020870	NM_001318734.2(KLC2):c.1785+13G>A	KLC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3003970	NM_001318734.2(KLC2):c.1214A>G (p.Asn405Ser)	KLC2, KLC2-AS1 (N405S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974278	NM_001318734.2(KLC2):c.494A>G (p.Asp165Gly)	KLC2, KLC2-AS1 (D165G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967774	NM_001318734.2(KLC2):c.1266+13G>A	KLC2, KLC2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2964623	NM_001318734.2(KLC2):c.1602+8C>T	KLC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962330	NM_001318734.2(KLC2):c.809G>A (p.Arg270Gln)	KLC2, KLC2-AS1 (R193Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2961510	NM_001318734.2(KLC2):c.1602+14C>T	KLC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955158	NM_001318734.2(KLC2):c.752+17G>T	KLC2, KLC2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916333	NM_001318734.2(KLC2):c.624C>T (p.Tyr208=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895041	NM_001318734.2(KLC2):c.509A>G (p.Asn170Ser)	KLC2, KLC2-AS1 (N170S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894208	NM_001318734.2(KLC2):c.1266+5C>G	KLC2, KLC2-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2835475	NM_001318734.2(KLC2):c.1286C>T (p.Ala429Val)	KLC2, KLC2-AS1 (A352V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2726736	NM_001318734.2(KLC2):c.1835T>C (p.Met612Thr)	KLC2 (M535T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2715914	NM_001318734.2(KLC2):c.596G>A (p.Arg199His)	KLC2, KLC2-AS1 (R199H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2694428	NM_001318734.2(KLC2):c.497A>T (p.Asp166Val)	KLC2, KLC2-AS1 (D89V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2641985	NM_001318734.2(KLC2):c.1401C>T (p.Ala467=)	KLC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641984	NM_001318734.2(KLC2):c.702C>T (p.His234=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641983	NM_001318734.2(KLC2):c.229-1G>A	KLC2, KLC2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2641982	NM_001318734.2(KLC2):c.60C>T (p.Gly20=)	KLC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2607618	NM_001318734.2(KLC2):c.1552C>G (p.Arg518Gly)	KLC2 (R518G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558204	NM_001318734.2(KLC2):c.1570G>A (p.Glu524Lys)	KLC2 (E447K +1 more)	Single nucleotide variant (missense variant)	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 2538354	NM_001318734.2(KLC2):c.8T>C (p.Met3Thr)	KLC2 (M3T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 2460144	NM_001318734.2(KLC2):c.1499G>T (p.Gly500Val)	KLC2 (G423V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460143	NM_001318734.2(KLC2):c.1498G>T (p.Gly500Cys)	KLC2 (G423C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2418452	NM_001318734.2(KLC2):c.378C>T (p.Ala126=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2407302	NM_001318734.2(KLC2):c.1517G>A (p.Arg506His)	KLC2 (R429H +1 more)	Single nucleotide variant (missense variant)	not specified	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 2341576	NM_001318734.2(KLC2):c.1378C>T (p.Arg460Trp)	KLC2 (R460W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2320948	NM_001318734.2(KLC2):c.1516C>A (p.Arg506Ser)	KLC2 (R429S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319317	NM_001318734.2(KLC2):c.196G>A (p.Glu66Lys)	KLC2 (E66K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261168	NM_001318734.2(KLC2):c.1546G>A (p.Gly516Arg)	KLC2 (G439R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2246072	NM_001318734.2(KLC2):c.1547G>T (p.Gly516Val)	KLC2 (G439V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226115	NM_001318734.2(KLC2):c.1576G>A (p.Val526Met)	KLC2 (V526M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225958	NM_001318734.2(KLC2):c.1504C>T (p.Arg502Trp)	KLC2 (R425W +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 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 2182894	NM_001318734.2(KLC2):c.507C>T (p.Pro169=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176956	NM_001318734.2(KLC2):c.1155G>A (p.Ala385=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176600	NM_001318734.2(KLC2):c.403C>G (p.Gln135Glu)	KLC2, KLC2-AS1 (Q135E)	Single nucleotide variant (missense variant +1 more)	not provided	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 2069293	NM_001318734.2(KLC2):c.870C>A (p.Val290=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2059856	NM_001318734.2(KLC2):c.1785+6G>T	KLC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2057039	NM_001318734.2(KLC2):c.1069C>T (p.Arg357Cys)	KLC2, KLC2-AS1 (R280C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2051166	NM_001318734.2(KLC2):c.511G>A (p.Glu171Lys)	KLC2-AS1, KLC2 (E171K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2035964	NM_001318734.2(KLC2):c.1511A>T (p.Asp504Val)	KLC2 (D504V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022921	NM_001318734.2(KLC2):c.136G>C (p.Glu46Gln)	KLC2 (E46Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1988206	NM_001318734.2(KLC2):c.1516C>G (p.Arg506Gly)	KLC2 (R429G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1970480	NM_001318734.2(KLC2):c.10A>T (p.Met4Leu)	KLC2 (M4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962029	NM_001318734.2(KLC2):c.820C>G (p.Leu274Val)	KLC2, KLC2-AS1 (L197V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923358	NM_001318734.2(KLC2):c.874T>C (p.Tyr292His)	KLC2, KLC2-AS1 (Y215H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918566	NM_001318734.2(KLC2):c.1813C>G (p.Arg605Gly)	KLC2 (R528G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914117	NM_001318734.2(KLC2):c.576C>T (p.Tyr192=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1684657	NC_000011.10:g.66257087_66257300del	KLC2	Deletion (genic upstream transcript variant)	See cases	GPathogenic
Select item 1669364	NM_001318734.2(KLC2):c.330T>G (p.Arg110=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1669055	NM_001318734.2(KLC2):c.1513C>T (p.Arg505Cys)	KLC2 (R428C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1663818	NM_001318734.2(KLC2):c.1334+12G>A	KLC2, KLC2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1662090	NM_001318734.2(KLC2):c.1362C>T (p.Ser454=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1655112	NM_001318734.2(KLC2):c.1727+11C>T	KLC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638838	NM_001318734.2(KLC2):c.1662G>A (p.Arg554=)	KLC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1599161	NM_001318734.2(KLC2):c.1334+7GGGGC[3]	KLC2, KLC2-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1598796	NM_001318734.2(KLC2):c.1549C>T (p.Pro517Ser)	KLC2 (P440S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1598687	NM_001318734.2(KLC2):c.1117-8G>A	KLC2, KLC2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1596624	NM_001318734.2(KLC2):c.30G>A (p.Glu10=)	KLC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1573469	NM_001318734.2(KLC2):c.870C>T (p.Val290=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1571625	NM_001318734.2(KLC2):c.1020T>A (p.Ala340=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1563047	NM_001318734.2(KLC2):c.853C>T (p.Leu285=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1492027	NM_001318734.2(KLC2):c.434A>G (p.Lys145Arg)	KLC2, KLC2-AS1 (K145R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1491124	NM_001318734.2(KLC2):c.287G>A (p.Arg96Gln)	KLC2, KLC2-AS1 (R96Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1484788	NM_001318734.2(KLC2):c.1516C>T (p.Arg506Cys)	KLC2 (R506C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1471590	NM_001318734.2(KLC2):c.1040A>G (p.Tyr347Cys)	KLC2-AS1, KLC2 (Y270C +1 more)	Single nucleotide variant (missense variant)	not provided	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 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 1419509	NM_001318734.2(KLC2):c.1532T>C (p.Met511Thr)	KLC2 (M511T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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