ClinVar for Gene (Select 3831) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3191295	NM_005432.4(XRCC3):c.938G>A (p.Arg313Gln)	KLC1, XRCC3 (R313Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191294	NM_005432.4(XRCC3):c.836G>A (p.Arg279His)	KLC1, XRCC3 (R279H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191290	NM_005432.4(XRCC3):c.685G>A (p.Ala229Thr)	KLC1, XRCC3 (A229T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191289	NM_005432.4(XRCC3):c.666A>C (p.Glu222Asp)	KLC1, XRCC3 (E222D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191288	NM_005432.4(XRCC3):c.617T>G (p.Met206Arg)	KLC1, XRCC3 (M206R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191287	NM_005432.4(XRCC3):c.575A>T (p.Glu192Val)	KLC1, XRCC3 (E192V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115214	NM_001394837.1(KLC1):c.811T>C (p.Tyr271His)	KLC1 (Y269H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115213	NM_001394837.1(KLC1):c.546T>A (p.Asn182Lys)	KLC1 (N182K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115212	NM_001394837.1(KLC1):c.496G>T (p.Asp166Tyr)	KLC1 (D166Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115210	NM_001394837.1(KLC1):c.1774A>G (p.Asn592Asp)	KLC1 (N583D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115209	NM_001394837.1(KLC1):c.1546A>G (p.Met516Val)	KLC1 (M514V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115208	NM_001394837.1(KLC1):c.1537C>T (p.Pro513Ser)	KLC1 (P511S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115207	NM_001394837.1(KLC1):c.1481G>A (p.Arg494His)	KLC1 (R492H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063327	GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	ADSS1, AHNAK2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3053237	NM_005432.4(XRCC3):c.801C>T (p.Gly267=)	KLC1, XRCC3	Single nucleotide variant (synonymous variant +1 more)	XRCC3-related disorder	GLikely benign
Select item 3050315	NM_005432.4(XRCC3):c.1020A>C (p.Thr340=)	KLC1, XRCC3	Single nucleotide variant (synonymous variant +1 more)	XRCC3-related disorder	GLikely benign
Select item 3033087	NM_005432.4(XRCC3):c.905G>A (p.Arg302His)	KLC1, XRCC3 (R302H)	Single nucleotide variant (missense variant +1 more)	XRCC3-related disorder	GLikely benign
Select item 2739870	NM_005432.4(XRCC3):c.774+19T>G	XRCC3, KLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2685500	GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1	DIO3OS, WDR20 +91 more	Copy number loss	not provided	GPathogenic
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2614246	NM_001394837.1(KLC1):c.1676G>T (p.Ser559Ile)	KLC1 (S550I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609976	NM_005432.4(XRCC3):c.802G>A (p.Ala268Thr)	KLC1, XRCC3 (A268T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	MIR4538, MIR4539 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2577008	GRCh37/hg19 14q32.32-32.33(chr14:103636647-107285437)x1	ADSS1, AHNAK2 +50 more	Copy number loss	not provided	GPathogenic
Select item 2566494	NM_001394837.1(KLC1):c.750C>G (p.Asp250Glu)	KLC1 (D250E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535122	NM_001394837.1(KLC1):c.1757G>T (p.Arg586Leu)	KLC1 (R585L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524490	NM_001394837.1(KLC1):c.1112C>T (p.Thr371Ile)	KLC1 (T369I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519519	NM_005432.4(XRCC3):c.727C>T (p.Arg243Cys)	KLC1, XRCC3 (R243C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516647	NM_001394837.1(KLC1):c.512C>G (p.Ser171Cys)	KLC1 (S171C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515108	NM_005432.4(XRCC3):c.623G>A (p.Arg208His)	KLC1, XRCC3 (R208H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508163	NM_001394837.1(KLC1):c.518A>G (p.Lys173Arg)	KLC1 (K173R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483608	NM_001394837.1(KLC1):c.1673G>A (p.Arg558His)	KLC1 (R556H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482375	NM_001394837.1(KLC1):c.748G>A (p.Asp250Asn)	KLC1 (D250N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470341	NM_001394837.1(KLC1):c.530A>G (p.Asp177Gly)	KLC1 (D177G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445276	NM_005432.4(XRCC3):c.811G>A (p.Gly271Arg)	KLC1, XRCC3 (G271R)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer	GBenign
Select item 2431442	NM_005432.4(XRCC3):c.1012C>T (p.Arg338Ter)	KLC1, XRCC3 (R338*)	Single nucleotide variant (nonsense +1 more)	Familial cancer of breast	GUncertain significance
Select item 2424156	NC_000014.8:g.(?_102228231)_(105861009_?)dup	ADSS1, AHNAK2 +47 more	Duplication	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2424155	NC_000014.8:g.(?_102442029)_(105861009_?)del	TMEM179, TNFAIP2 +46 more	Deletion	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2403763	NM_005432.4(XRCC3):c.832G>A (p.Glu278Lys)	KLC1, XRCC3 (E278K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403701	NM_005432.4(XRCC3):c.904C>T (p.Arg302Cys)	KLC1, XRCC3 (R302C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355119	NM_005432.4(XRCC3):c.898C>T (p.Arg300Trp)	KLC1, XRCC3 (R300W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343116	NM_001394837.1(KLC1):c.1564C>T (p.Arg522Cys)	KLC1 (R522C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342037	NM_001394837.1(KLC1):c.1636G>A (p.Val546Ile)	KLC1 (V544I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325004	NM_005432.4(XRCC3):c.669T>G (p.Phe223Leu)	KLC1, XRCC3 (F223L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318680	NM_005432.4(XRCC3):c.829G>T (p.Asp277Tyr)	KLC1, XRCC3 (D277Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289768	NM_001394837.1(KLC1):c.29A>G (p.Tyr10Cys)	KLC1 (Y10C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288568	NM_001394837.1(KLC1):c.1612G>A (p.Gly538Arg)	KLC1 (G538R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276796	NM_001394837.1(KLC1):c.184A>G (p.Ser62Gly)	KLC1 (S62G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272939	NM_001394837.1(KLC1):c.1648G>C (p.Gly550Arg)	KLC1 (G549R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228988	NM_001394837.1(KLC1):c.1565G>A (p.Arg522His)	KLC1 (R547H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220860	NM_005432.4(XRCC3):c.793G>A (p.Glu265Lys)	KLC1, XRCC3 (E265K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211943	NM_005432.4(XRCC3):c.659G>A (p.Arg220His)	KLC1, XRCC3 (R220H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1681847	NC_000014.8:g.(?_103336539)_(105861009_?)dup	ADSS1, AHNAK2 +37 more	Duplication	not provided	GUncertain significance
Select item 1526437	GRCh37/hg19 14q32.31-32.33(chr14:101732158-107285437)	SIVA1, TDRD9 +67 more	Copy number loss	not specified	GPathogenic
Select item 1410807	NC_000014.8:g.(?_102229222)_(105861009_?)dup	ADSS1, AHNAK2 +47 more	Duplication	not provided	GUncertain significance
Select item 1341203	GRCh37/hg19 14q32.31-32.33(chr14:101593860-106160500)x1	ADSS1, AHNAK2 +60 more	Copy number loss	not provided	GPathogenic
Select item 1050194	NM_005432.4(XRCC3):c.925G>A (p.Gly309Ser)	KLC1, XRCC3 (G309S)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer	GBenign
Select item 980625	GRCh37/hg19 14q32.31-32.33(chr14:102615953-107285437)x1	IGHV3-23, IGHM +62 more	Copy number loss	not provided	GPathogenic
Select item 929832	GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1	PPP2R5C, RCOR1 +112 more	Copy number loss	See cases	GPathogenic
Select item 815679	GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1	CEP170B, BAG5 +56 more	Copy number loss	not provided	GPathogenic
Select item 716404	NM_001394837.1(KLC1):c.630C>T (p.Pro210=)	KLC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 695535	NM_005432.4(XRCC3):c.728G>A (p.Arg243His)	KLC1, XRCC3 (R243H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 688581	GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3	ADSS1, AHNAK2 +104 more	Copy number gain	not provided	GPathogenic
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	BTBD6, MIR369 +164 more	Copy number gain	not provided	GPathogenic
Select item 687726	GRCh37/hg19 14q32.31-32.33(chr14:101627916-107147698)x1	ADSS1, AHNAK2 +67 more	Copy number loss	not provided	GPathogenic
Select item 686480	GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1	ADSS1, AHNAK2 +58 more	Copy number loss	not provided	GPathogenic
Select item 625744	GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934)	ADSS1, AHNAK2 +98 more	Copy number gain	not provided	GPathogenic
Select item 625708	GRCh37/hg19 14q32.32-32.33(chr14:103804791-105677579)	INF2, JAG2 +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 564134	GRCh37/hg19 14q32.31-32.33(chr14:102191861-106019451)x3	AMN, TEX22 +53 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 443644	GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1	AHNAK2, ADSS1 +96 more	Copy number loss	See cases	GPathogenic
Select item 443301	GRCh37/hg19 14q32.32-32.33(chr14:103965059-107285437)x1	ADSS1, AHNAK2 +49 more	Copy number loss	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	NUMB, OTUB2 +261 more	Copy number gain	See cases	GPathogenic
Select item 442421	GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1	ADSS1, AHNAK2 +56 more	Copy number loss	See cases	GPathogenic
Select item 441703	GRCh37/hg19 14q32.31-32.33(chr14:102670706-107285437)x1	ADSS1, AHNAK2 +62 more	Copy number loss	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic
Select item 395243	GRCh37/hg19 14q32.32-32.33(chr14:103390060-104436909)x1	AMN, ATP5MJ +15 more	Copy number loss	See cases	GPathogenic
Select item 155689	GRCh38/hg38 14q32.32-32.33(chr14:103332197-104435594)x3	ASPG, ATP5MJ +72 more	Copy number gain	See cases	GUncertain significance
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056617, LOC130056618 +571 more	Copy number loss	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 155087	GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	ADSS1, AHNAK2 +367 more	Copy number loss	See cases	GPathogenic
Select item 154526	GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3	MIR4710, MIR5195 +304 more	Copy number gain	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	ADSS1, AHNAK2 +441 more	Copy number loss	See cases	GPathogenic
Select item 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	BRF1, ADSS1 +397 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	LINC00605, LINC00677 +416 more	Copy number loss	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	ADSS1, AHNAK2 +754 more	Copy number loss	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	ADSS1, AK7 +662 more	Copy number gain	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056627, LOC130056628 +653 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR494, MIR495 +530 more	Copy number gain	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	IGHD3-22, IGHD3-3 +670 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +631 more	Copy number loss	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 57840	GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1	ADSS1, AKT1 +177 more	Copy number loss	See cases	GPathogenic

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