28637[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 57997	GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	ACAP2, APOD +411 more	Copy number gain	See cases	GPathogenic
Select item 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	LOC126806930, LOC126806931 +375 more	Copy number gain	See cases	GPathogenic
Select item 148761	GRCh38/hg38 3q29(chr3:192752937-198118383)x3	ACAP2, APOD +337 more	Copy number gain	See cases	GPathogenic
Select item 155434	GRCh38/hg38 3q29(chr3:193704605-198125115)x3	TM4SF19-DYNLT2B, TMEM44 +313 more	Copy number gain	See cases	GPathogenic
Select item 149477	GRCh38/hg38 3q29(chr3:194296197-198110198)x3	ACAP2, APOD +273 more	Copy number gain	See cases	GPathogenic
Select item 58000	GRCh38/hg38 3q29(chr3:194424496-198168758)x3	RUBCN, SENP5 +264 more	Copy number gain	See cases	GPathogenic
Select item 148016	GRCh38/hg38 3q29(chr3:195711798-198110178)x3	BDH1, CEP19 +169 more	Copy number gain	See cases	GPathogenic
Select item 59685	GRCh38/hg38 3q29(chr3:195711798-197976152)x3	LOC129938284, LOC129938285 +166 more	Copy number gain	See cases	GUncertain significance
Select item 59686	GRCh38/hg38 3q29(chr3:195896948-198110178)x3	BDH1, CEP19 +155 more	Copy number gain	See cases	GUncertain significance
Select item 153416	GRCh38/hg38 3q29(chr3:196418334-198125115)x3	BDH1, CEP19 +102 more	Copy number gain	See cases	GUncertain significance
Select item 149972	GRCh38/hg38 3q29(chr3:196812829-197938552)x3	BDH1, DLG1 +62 more	Copy number gain	See cases	GUncertain significance
Select item 59689	GRCh38/hg38 3q29(chr3:197511726-197833102)x3	BDH1, FYTTD1 +21 more	Copy number gain	See cases	GUncertain significance
Select item 2579209	GRCh38/hg38 3q29(chr3:197681032-198111976)x1	FYTTD1, IQCG +27 more	Copy number loss	Diamond-Blackfan anemia 5	GPathogenic
Select item 152457	GRCh38/hg38 3q29(chr3:197786508-197876465)x3	FYTTD1, LOC126806937 +5 more	Copy number gain	See cases	GBenign
Select item 3049496	NM_001365715.1(LRCH3):c.-10C>T	LRCH3	Single nucleotide variant (5 prime UTR variant +1 more)	LRCH3-related disorder	GLikely benign
Select item 3038561	NM_001365715.1(LRCH3):c.6G>A (p.Ala2=)	LRCH3	Single nucleotide variant (synonymous variant +1 more)	LRCH3-related disorder	GLikely benign
Select item 3035137	NM_001365715.1(LRCH3):c.24T>C (p.Ala8=)	LRCH3	Single nucleotide variant (synonymous variant +1 more)	LRCH3-related disorder	GLikely benign
Select item 2520184	NM_001365715.1(LRCH3):c.67G>A (p.Gly23Ser)	LRCH3 (G23S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119906	NM_001365715.1(LRCH3):c.79G>A (p.Gly27Ser)	LRCH3 (G27S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210167	NM_001365715.1(LRCH3):c.86A>C (p.His29Pro)	LRCH3 (H29P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610576	NM_001365715.1(LRCH3):c.107C>A (p.Ala36Glu)	LRCH3 (A36E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291243	NM_001365715.1(LRCH3):c.109G>A (p.Gly37Ser)	LRCH3 (G37S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489815	NM_001365715.1(LRCH3):c.127G>T (p.Gly43Cys)	LRCH3 (G43C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119896	NM_001365715.1(LRCH3):c.154G>T (p.Ala52Ser)	LRCH3 (A52S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291245	NM_001365715.1(LRCH3):c.155C>G (p.Ala52Gly)	LRCH3 (A52G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119898	NM_001365715.1(LRCH3):c.199C>T (p.Arg67Trp)	LRCH3 (R67W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477896	NM_001365715.1(LRCH3):c.217C>T (p.Pro73Ser)	LRCH3 (P73S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119900	NM_001365715.1(LRCH3):c.224G>A (p.Gly75Glu)	LRCH3 (G75E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119901	NM_001365715.1(LRCH3):c.256C>T (p.Arg86Trp)	LRCH3 (R86W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049603	NM_001365715.1(LRCH3):c.263-3T>C	LRCH3	Single nucleotide variant (intron variant)	LRCH3-related disorder	GLikely benign
Select item 3119902	NM_001365715.1(LRCH3):c.280C>T (p.Leu94Phe)	LRCH3 (L94F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3033723	NM_001365715.1(LRCH3):c.443G>A (p.Cys148Tyr)	LRCH3 (C148Y)	Single nucleotide variant (missense variant +1 more)	LRCH3-related disorder	GLikely benign
Select item 2215054	NM_001365715.1(LRCH3):c.476A>G (p.Asn159Ser)	LRCH3 (N159S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318442	NM_001365715.1(LRCH3):c.506T>C (p.Ile169Thr)	LRCH3 (I169T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531990	NM_001365715.1(LRCH3):c.508G>C (p.Gly170Arg)	LRCH3 (G170R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119903	NM_001365715.1(LRCH3):c.521A>G (p.His174Arg)	LRCH3 (H174R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320783	NM_001365715.1(LRCH3):c.620A>C (p.His207Pro)	LRCH3 (H207P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119904	NM_001365715.1(LRCH3):c.650A>G (p.Glu217Gly)	LRCH3 (E217G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454327	NM_001365715.1(LRCH3):c.662T>A (p.Ile221Lys)	LRCH3 (I221K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291244	NM_001365715.1(LRCH3):c.710A>G (p.Tyr237Cys)	LRCH3 (Y237C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119905	NM_001365715.1(LRCH3):c.734C>T (p.Thr245Met)	LRCH3 (T245M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2303180	NM_001365715.1(LRCH3):c.827C>T (p.Ala276Val)	LRCH3 (A276V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3045978	NM_001365715.1(LRCH3):c.851C>T (p.Pro284Leu)	LRCH3 (P284L)	Single nucleotide variant (missense variant +1 more)	LRCH3-related disorder	GLikely benign
Select item 3038331	NM_001365715.1(LRCH3):c.870G>A (p.Pro290=)	LRCH3	Single nucleotide variant (synonymous variant +1 more)	LRCH3-related disorder	GLikely benign
Select item 3060060	NM_001365715.1(LRCH3):c.888-6C>T	LRCH3	Single nucleotide variant (intron variant)	LRCH3-related disorder	GBenign
Select item 2407398	NM_001365715.1(LRCH3):c.910C>T (p.Arg304Cys)	LRCH3 (R304C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119907	NM_001365715.1(LRCH3):c.941A>G (p.Asn314Ser)	LRCH3 (N314S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058301	NM_001365715.1(LRCH3):c.987A>G (p.Thr329=)	LRCH3	Single nucleotide variant (synonymous variant +1 more)	LRCH3-related disorder	GLikely benign
Select item 2313806	NM_001365715.1(LRCH3):c.1012C>G (p.Arg338Gly)	LRCH3 (R338G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495852	NM_001365715.1(LRCH3):c.1036C>G (p.Gln346Glu)	LRCH3 (Q346E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522054	NM_001365715.1(LRCH3):c.1055G>T (p.Ser352Ile)	LRCH3 (S352I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559423	NM_001365715.1(LRCH3):c.1073G>A (p.Arg358His)	LRCH3 (R358H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552603	NM_001365715.1(LRCH3):c.1147G>A (p.Ala383Thr)	LRCH3 (A383T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318918	NM_001365715.1(LRCH3):c.1152G>C (p.Glu384Asp)	LRCH3 (E384D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119891	NM_001365715.1(LRCH3):c.1165G>A (p.Glu389Lys)	LRCH3 (E389K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487895	NM_001365715.1(LRCH3):c.1200C>A (p.Ser400Arg)	LRCH3 (S400R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291238	NM_001365715.1(LRCH3):c.1223A>G (p.Tyr408Cys)	LRCH3 (Y408C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119892	NM_001365715.1(LRCH3):c.1238G>A (p.Arg413Gln)	LRCH3 (R413Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508122	NM_001365715.1(LRCH3):c.1238G>T (p.Arg413Leu)	LRCH3 (R413L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1696640	Single allele	IQCG, LOC107133517 +5 more	Duplication	not provided	GUncertain significance
Select item 3044299	NM_001365715.1(LRCH3):c.1252-4C>T	LRCH3	Single nucleotide variant (intron variant)	LRCH3-related disorder	GLikely benign
Select item 3119893	NM_001365715.1(LRCH3):c.1266G>C (p.Lys422Asn)	LRCH3 (K422N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034710	NM_001365715.1(LRCH3):c.1293A>C (p.Lys431Asn)	LRCH3 (K431N)	Single nucleotide variant (missense variant +1 more)	LRCH3-related disorder	GLikely benign
Select item 2562409	NM_001365715.1(LRCH3):c.1310G>A (p.Arg437Lys)	LRCH3 (R437K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3059506	NM_001365715.1(LRCH3):c.1314T>C (p.Tyr438=)	LRCH3	Single nucleotide variant (synonymous variant +1 more)	LRCH3-related disorder	GBenign
Select item 3119894	NM_001365715.1(LRCH3):c.1435A>T (p.Thr479Ser)	LRCH3 (T479S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291239	NM_001365715.1(LRCH3):c.1510G>C (p.Ala504Pro)	LRCH3 (A504P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058745	NM_001365715.1(LRCH3):c.1519G>A (p.Asp507Asn)	LRCH3 (D507N)	Single nucleotide variant (missense variant +1 more)	LRCH3-related disorder	GLikely benign
Select item 2409298	NM_001365715.1(LRCH3):c.1546A>G (p.Ser516Gly)	LRCH3 (S516G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058854	NM_001365715.1(LRCH3):c.1565C>T (p.Pro522Leu)	LRCH3 (P522L)	Single nucleotide variant (missense variant +1 more)	LRCH3-related disorder	GBenign
Select item 3291240	NM_001365715.1(LRCH3):c.1579G>A (p.Val527Ile)	LRCH3 (V527I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232101	NM_001365715.1(LRCH3):c.1627G>T (p.Asp543Tyr)	LRCH3 (D543Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055746	NM_001365715.1(LRCH3):c.1647G>A (p.Ser549=)	LRCH3	Single nucleotide variant (synonymous variant +2 more)	LRCH3-related disorder	GLikely benign
Select item 150783	GRCh38/hg38 3q29(chr3:197862644-198110198)x3	IQCG, LMLN +11 more	Copy number gain	See cases	GBenign
Select item 146856	GRCh38/hg38 3q29(chr3:197862644-198021643)x3	IQCG, LMLN +9 more	Copy number gain	See cases	GBenign
Select item 3119897	NM_001365715.1(LRCH3):c.1781C>T (p.Ala594Val)	LRCH3 (A570V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622514	NM_001365715.1(LRCH3):c.1820A>T (p.Gln607Leu)	LRCH3 (Q583L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058043	NM_001365715.1(LRCH3):c.1824C>T (p.Arg608=)	LRCH3	Single nucleotide variant (synonymous variant +1 more)	LRCH3-related disorder	GLikely benign
Select item 2596227	NM_001365715.1(LRCH3):c.1876C>T (p.His626Tyr)	LRCH3 (H626Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056465	NM_001365715.1(LRCH3):c.1887C>T (p.Pro629=)	LRCH3	Single nucleotide variant (synonymous variant +1 more)	LRCH3-related disorder	GBenign
Select item 2558373	NM_001365715.1(LRCH3):c.1931T>G (p.Ile644Arg)	LRCH3 (I608R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291237	NM_001365715.1(LRCH3):c.1955G>C (p.Arg652Thr)	LRCH3 (R616T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473337	NM_001365715.1(LRCH3):c.1978G>A (p.Asp660Asn)	LRCH3 (D624N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058499	NM_001365715.1(LRCH3):c.1987C>T (p.Arg663Cys)	LRCH3 (R627C +2 more)	Single nucleotide variant (missense variant +1 more)	LRCH3-related disorder	GLikely benign
Select item 2370361	NM_001365715.1(LRCH3):c.1988G>A (p.Arg663His)	LRCH3 (R639H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119899	NM_001365715.1(LRCH3):c.2020C>G (p.Leu674Val)	LRCH3 (L674V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334137	NM_001365715.1(LRCH3):c.2075C>T (p.Ala692Val)	LRCH3 (A692V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291242	NM_001365715.1(LRCH3):c.2078A>G (p.Asn693Ser)	LRCH3 (N693S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291241	NM_001365715.1(LRCH3):c.2087G>A (p.Arg696Gln)	LRCH3 (R660Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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