C3888239[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134987	NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His)	NOTCH2 (L2408H)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +4 more	GBenign/Likely benign
Select item 213835	NM_003238.6(TGFB2):c.272G>A (p.Arg91His)	TGFB2 (R91H)	Single nucleotide variant (missense variant +1 more)	Holt-Oram syndrome +5 more	GBenign/Likely benign
Select item 229201	NM_020975.6(RET):c.-2C>A	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +7 more	GConflicting classifications of pathogenicity
Select item 486313	NM_020975.6(RET):c.20G>A (p.Gly7Asp)	LOC106736614, RET (G7D)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 477368	NM_020975.6(RET):c.31C>T (p.Leu11=)	LOC106736614, RET	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GLikely benign
Select item 216728	NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu)	RET	Microsatellite (inframe_indel +1 more)	Multiple endocrine neoplasia type 2A +8 more	GConflicting classifications of pathogenicity
Select item 952569	NM_020975.6(RET):c.59C>A (p.Pro20Gln)	RET (P20Q)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +7 more	GUncertain significance
Select item 1592544	NM_020975.6(RET):c.73+17G>T	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2 +5 more	GLikely benign
Select item 413462	NM_020975.6(RET):c.79T>C (p.Leu27=)	RET	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 2 +7 more	GLikely benign
Select item 477388	NM_020975.6(RET):c.81G>A (p.Leu27=)	RET	Single nucleotide variant (synonymous variant +1 more)	not provided +7 more	GLikely benign
Select item 651895	NM_020975.6(RET):c.82G>A (p.Gly28Ser)	RET (G28S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 543774	NM_020975.6(RET):c.96G>A (p.Ser32=)	RET	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GLikely benign
Select item 405538	NM_020975.6(RET):c.134C>T (p.Ala45Val)	RET (A45V)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +8 more	GUncertain significance
Select item 737891	NM_020975.6(RET):c.138C>T (p.Ala46=)	RET	Single nucleotide variant (synonymous variant +1 more)	Hirschsprung disease, susceptibility to, 1 +6 more	GLikely benign
Select item 215905	NM_020975.6(RET):c.144G>A (p.Thr48=)	RET	Single nucleotide variant (synonymous variant +1 more)	not provided +7 more	GLikely benign
Select item 864094	NM_020975.6(RET):c.178C>T (p.Pro60Ser)	RET (P60S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 749796	NM_020975.6(RET):c.186G>A (p.Glu62=)	RET	Single nucleotide variant (synonymous variant +1 more)	Familial medullary thyroid carcinoma +6 more	GLikely benign
Select item 477335	NM_020975.6(RET):c.199C>T (p.Arg67Cys)	RET (R67C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 477345	NM_020975.6(RET):c.236G>A (p.Arg79Gln)	RET (R79Q)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2B +7 more	GConflicting classifications of pathogenicity
Select item 135183	NM_020975.6(RET):c.304G>A (p.Asp102Asn)	RET (D102N)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +7 more	GConflicting classifications of pathogenicity
Select item 543735	NM_020975.6(RET):c.350C>A (p.Pro117His)	RET (P117H)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +6 more	GUncertain significance
Select item 568215	NM_020975.6(RET):c.398G>A (p.Arg133His)	RET (R133H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 216727	NM_020975.6(RET):c.406G>A (p.Glu136Lys)	RET (E136K)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +8 more	GConflicting classifications of pathogenicity
Select item 216729	NM_020975.6(RET):c.431G>A (p.Arg144His)	RET (R144H)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2A +7 more	GUncertain significance
Select item 573409	NM_020975.6(RET):c.433G>A (p.Val145Ile)	RET (V145I)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 856445	NM_020975.6(RET):c.443C>T (p.Ser148Phe)	RET (S148F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 1016306	NM_020975.6(RET):c.445TTC[1] (p.Phe150del)	RET (F150del)	Microsatellite (inframe_indel +1 more)	Hirschsprung disease, susceptibility to, 1 +7 more	GUncertain significance
Select item 1001213	NM_020975.6(RET):c.452A>T (p.Asn151Ile)	RET (N151I)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +6 more	GUncertain significance
Select item 486321	NM_020975.6(RET):c.452A>G (p.Asn151Ser)	RET (N151S)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +7 more	GConflicting classifications of pathogenicity
Select item 215531	NM_020975.6(RET):c.468C>T (p.Ala156=)	RET	Single nucleotide variant (synonymous variant +1 more)	not provided +8 more	GBenign/Likely benign
Select item 135184	NM_020975.6(RET):c.488G>A (p.Arg163Gln)	RET (R163Q +1 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +6 more	GConflicting classifications of pathogenicity
Select item 220056	NM_020975.6(RET):c.517T>C (p.Ser173Pro)	RET (S173P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 188067	NM_020975.6(RET):c.548G>A (p.Gly183Asp)	RET (G183D +1 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +6 more	GUncertain significance
Select item 1044947	NM_020975.6(RET):c.565C>T (p.Arg189Cys)	RET (R189C +1 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +6 more	GUncertain significance
Select item 543721	NM_020975.6(RET):c.577G>T (p.Val193Leu)	RET (V193L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 1481718	NM_020975.6(RET):c.592C>T (p.Pro198Ser)	RET (P198S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 560871	NM_020975.6(RET):c.602G>C (p.Ser201Thr)	RET (S201T +1 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +7 more	GConflicting classifications of pathogenicity
Select item 184536	NM_020975.6(RET):c.604G>A (p.Val202Met)	RET (V202M +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +9 more	GUncertain significance
Select item 1560404	NM_020975.6(RET):c.625+11A>G	RET	Single nucleotide variant (intron variant)	Pheochromocytoma +5 more	GLikely benign
Select item 1697458	NM_020975.6(RET):c.626-41G>A	RET	Single nucleotide variant (5 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 1 +5 more	GLikely benign
Select item 405525	NM_020975.6(RET):c.650C>A (p.Ala217Asp)	RET (A217D +2 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +8 more	GUncertain significance
Select item 584745	NM_020975.6(RET):c.652C>T (p.Pro218Ser)	RET (P218S +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 968066	NM_020975.6(RET):c.677G>C (p.Arg226Pro)	RET (R226P +2 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2A +6 more	GUncertain significance
Select item 220524	NM_020975.6(RET):c.682G>C (p.Ala228Pro)	RET (A228P +2 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +7 more	GConflicting classifications of pathogenicity
Select item 662310	NM_020975.6(RET):c.701G>A (p.Arg234Gln)	RET (R234Q +2 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +7 more	GConflicting classifications of pathogenicity
Select item 745515	NM_020975.6(RET):c.723C>T (p.Ala241=)	RET	Single nucleotide variant (synonymous variant +2 more)	Multiple endocrine neoplasia, type 2 +6 more	GLikely benign
Select item 477385	NM_020975.6(RET):c.731C>T (p.Thr244Ile)	RET (T244I +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 486315	NM_020975.6(RET):c.736C>A (p.His246Asn)	RET (H246N +2 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +7 more	GConflicting classifications of pathogenicity
Select item 939898	NM_020975.6(RET):c.750C>T (p.Arg250=)	RET	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 1613163	NM_020975.6(RET):c.810C>A (p.Pro270=)	RET	Single nucleotide variant (synonymous variant +1 more)	Hirschsprung disease, susceptibility to, 1 +6 more	GLikely benign
Select item 697406	NM_020975.6(RET):c.825C>T (p.Gly275=)	RET	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 2 +7 more	GLikely benign
Select item 220205	NM_020975.6(RET):c.832A>G (p.Thr278Ala)	RET (T278A +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +6 more	GUncertain significance
Select item 1662743	NM_020975.6(RET):c.868-18G>T	RET	Single nucleotide variant (intron variant)	Hirschsprung disease, susceptibility to, 1 +5 more	GLikely benign
Select item 261399	NM_020975.6(RET):c.868-6C>T	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2 +7 more	GBenign/Likely benign
Select item 822820	NM_020975.6(RET):c.890G>A (p.Arg297His)	RET (R43H +3 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 477390	NM_020975.6(RET):c.897C>T (p.Phe299=)	RET	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GLikely benign
Select item 413472	NM_020975.6(RET):c.921A>G (p.Ser307=)	RET	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 2 +7 more	GLikely benign
Select item 13932	NM_020975.6(RET):c.938G>A (p.Arg313Gln)	RET (R313Q +3 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1106240	NM_020975.6(RET):c.960C>T (p.Pro320=)	RET	Single nucleotide variant (intron variant +1 more)	not specified +7 more	GBenign/Likely benign
Select item 937428	NM_020975.6(RET):c.960C>A (p.Pro320=)	RET	Single nucleotide variant (synonymous variant +1 more)	Hirschsprung disease, susceptibility to, 1 +6 more	GConflicting classifications of pathogenicity
Select item 216731	NM_020975.6(RET):c.977A>G (p.Gln326Arg)	RET (Q326R +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 548870	NM_020975.6(RET):c.1016C>T (p.Ser339Leu)	RET (S339L +3 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +6 more	GConflicting classifications of pathogenicity
Select item 241332	NM_020975.6(RET):c.1050C>T (p.Thr350=)	RET	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +7 more	GBenign/Likely benign
Select item 187498	NM_020975.6(RET):c.1051G>A (p.Val351Ile)	RET (V351I +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 486314	NM_020975.6(RET):c.1102C>T (p.Arg368Cys)	RET (R368C +6 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +7 more	GConflicting classifications of pathogenicity
Select item 216712	NM_020975.6(RET):c.1103G>A (p.Arg368His)	RET (R368H +6 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +7 more	GUncertain significance
Select item 543723	NM_020975.6(RET):c.1138G>A (p.Asp380Asn)	RET (D380N +6 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +5 more	GUncertain significance
Select item 405529	NM_020975.6(RET):c.1151C>G (p.Pro384Arg)	RET (P384R +6 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +8 more	GUncertain significance
Select item 543752	NM_020975.6(RET):c.1154G>T (p.Gly385Val)	RET (G385V +6 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 136096	NM_020975.6(RET):c.1182C>T (p.Asn394=)	RET	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia type 2A +6 more	GLikely benign
Select item 1538693	NM_020975.6(RET):c.1230C>G (p.Leu410=)	RET	Single nucleotide variant (synonymous variant +1 more)	not provided +7 more	GLikely benign
Select item 219872	NM_020975.6(RET):c.1253G>A (p.Arg418Gln)	RET (R418Q +6 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +7 more	GConflicting classifications of pathogenicity
Select item 219396	NM_020975.6(RET):c.1253G>C (p.Arg418Pro)	RET (R418P +6 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +6 more	GUncertain significance
Select item 1654274	NM_020975.6(RET):c.1263+19C>T	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia type 2B +5 more	GLikely benign
Select item 838741	NM_020975.6(RET):c.1264-10G>A	RET	Single nucleotide variant (intron variant)	Pheochromocytoma +5 more	GUncertain significance
Select item 1201517	NM_020975.6(RET):c.1264-5C>A	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia type 2A +7 more	GConflicting classifications of pathogenicity
Select item 132713	NM_020975.6(RET):c.1264-5C>T	RET	Single nucleotide variant (intron variant)	Renal hypodysplasia/aplasia 1 +10 more	GBenign/Likely benign
Select item 198583	NM_020975.6(RET):c.1300A>G (p.Ser434Gly)	RET (S434G +8 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 700002	NM_020975.6(RET):c.1311C>T (p.Asn437=)	RET	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia type 2B +6 more	GLikely benign
Select item 477314	NM_020975.6(RET):c.1312G>A (p.Val438Ile)	RET (V438I +8 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 136098	NM_020975.6(RET):c.1344C>G (p.Asn448Lys)	RET (N448K +8 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +8 more	GConflicting classifications of pathogenicity
Select item 818987	NM_020975.6(RET):c.1363G>A (p.Val455Ile)	RET (V201I +8 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +6 more	GConflicting classifications of pathogenicity
Select item 543787	NM_020975.6(RET):c.1371A>T (p.Ser457=)	RET	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 2 +6 more	GLikely benign
Select item 405546	NM_020975.6(RET):c.1375G>A (p.Glu459Lys)	RET (E459K +8 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +6 more	GUncertain significance
Select item 956150	NM_020975.6(RET):c.1385C>T (p.Ser462Leu)	RET (S462L +8 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 432998	NM_020975.6(RET):c.1399G>C (p.Val467Leu)	RET (V467L +8 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2A +7 more	GUncertain significance
Select item 572175	NM_020975.6(RET):c.1423C>T (p.Arg475Trp)	RET (R475W +8 more)	Single nucleotide variant (missense variant)	Familial medullary thyroid carcinoma +7 more	GUncertain significance
Select item 405534	NM_020975.6(RET):c.1448A>G (p.Tyr483Cys)	RET (Y483C +8 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +7 more	GUncertain significance
Select item 215906	NM_020975.6(RET):c.1476C>G (p.Thr492=)	RET	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +7 more	GLikely benign
Select item 486306	NM_020975.6(RET):c.1493C>T (p.Ala498Val)	RET (A498V +8 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +7 more	GUncertain significance
Select item 299893	NM_020975.6(RET):c.1523-7C>T	RET	Single nucleotide variant (intron variant)	Hirschsprung disease, susceptibility to, 1 +7 more	GBenign/Likely benign
Select item 219959	NM_020975.6(RET):c.1530C>T (p.Ala510=)	RET	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 570220	NM_020975.6(RET):c.1547C>G (p.Pro516Arg)	RET (P516R +12 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 135191	NM_020975.6(RET):c.1573C>T (p.Arg525Trp)	RET (R525W +12 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +8 more	GUncertain significance
Select item 413470	NM_020975.6(RET):c.1596C>T (p.Gly532=)	RET	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +7 more	GLikely benign
Select item 1093517	NM_020975.6(RET):c.1617C>A (p.Gly539=)	RET	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia, type 2 +6 more	GLikely benign
Select item 299894	NM_020975.6(RET):c.1618A>G (p.Arg540Gly)	RET (R540G +12 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +9 more	GConflicting classifications of pathogenicity
Select item 136102	NM_020975.6(RET):c.1642G>A (p.Gly548Ser)	RET (G548S +12 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +7 more	GConflicting classifications of pathogenicity
Select item 216715	NM_020975.6(RET):c.1648+5G>A	RET	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 1584253	NM_020975.6(RET):c.1648+14A>G	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2 +5 more	GLikely benign

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