C2931072[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1575183	NM_201384.3(PLEC):c.13641C>T (p.Ala4547=)	PLEC	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +4 more	GLikely benign
Select item 471544	NM_201384.3(PLEC):c.13641C>G (p.Ala4547=)	PLEC	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 960435	NM_201384.3(PLEC):c.13640C>G (p.Ala4547Gly)	PLEC (A4574G +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +5 more	GUncertain significance
Select item 390440	NM_201384.3(PLEC):c.13636G>A (p.Val4546Met)	PLEC (V4514M +6 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 1621854	NM_201384.3(PLEC):c.13635C>T (p.Ala4545=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GLikely benign
Select item 1374025	NM_201384.3(PLEC):c.13633G>C (p.Ala4545Pro)	PLEC (A4523P +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GUncertain significance
Select item 1440833	NM_201384.3(PLEC):c.13631_13632del (p.Ser4544fs)	PLEC (S4512fs +6 more)	Deletion (frameshift variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 2922867	NM_201384.3(PLEC):c.13626T>C (p.Pro4542=)	PLEC	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +4 more	GLikely benign
Select item 854240	NM_201384.3(PLEC):c.13624C>T (p.Pro4542Ser)	PLEC (P4510S +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 2182713	NM_201384.3(PLEC):c.13622G>C (p.Gly4541Ala)	PLEC (G4527A +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +4 more	GUncertain significance
Select item 1360572	NM_201384.3(PLEC):c.13622G>T (p.Gly4541Val)	PLEC (G4527V +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more	GUncertain significance
Select item 1011653	NM_201384.3(PLEC):c.13621G>A (p.Gly4541Ser)	PLEC (G4509S +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 1432857	NM_201384.3(PLEC):c.13619G>T (p.Gly4540Val)	PLEC (G4518V +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more	GUncertain significance
Select item 2142146	NM_201384.3(PLEC):c.13615C>T (p.Leu4539=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GLikely benign
Select item 2949456	NM_201384.3(PLEC):c.13608G>A (p.Ser4536=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more	GLikely benign
Select item 500806	NM_201384.3(PLEC):c.13607C>T (p.Ser4536Leu)	PLEC (S4504L +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 1087073	NM_201384.3(PLEC):c.13605C>T (p.Ser4535=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 1414754	NM_201384.3(PLEC):c.13601G>A (p.Gly4534Glu)	PLEC (G4520E +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 646420	NM_201384.3(PLEC):c.13599G>A (p.Ser4533=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +5 more	GLikely benign
Select item 941651	NM_201384.3(PLEC):c.13598C>T (p.Ser4533Leu)	PLEC (S4670L +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +5 more	GUncertain significance
Select item 501734	NM_201384.3(PLEC):c.13596C>T (p.Ala4532=)	PLEC	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +5 more	GConflicting classifications of pathogenicity
Select item 2116800	NM_201384.3(PLEC):c.13595C>G (p.Ala4532Gly)	PLEC (A3432G +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more	GUncertain significance
Select item 2435044	NM_201384.3(PLEC):c.13594G>A (p.Ala4532Thr)	PLEC (A3432T +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +5 more	GUncertain significance
Select item 389523	NM_201384.3(PLEC):c.13593C>T (p.Tyr4531=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex, Ogna type +5 more	GLikely benign
Select item 2926168	NM_201384.3(PLEC):c.13588C>T (p.Arg4530Cys)	PLEC (R4530C +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 659544	NM_201384.3(PLEC):c.13586G>A (p.Arg4529His)	PLEC (R4507H +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 1991639	NM_201384.3(PLEC):c.13582G>A (p.Gly4528Ser)	PLEC (G3428S +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +4 more	GUncertain significance
Select item 385829	NM_201384.3(PLEC):c.13581C>T (p.Tyr4527=)	PLEC	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1955561	NM_201384.3(PLEC):c.13580A>G (p.Tyr4527Cys)	PLEC (Y4513C +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +4 more	GUncertain significance
Select item 574348	NM_201384.3(PLEC):c.13580A>T (p.Tyr4527Phe)	PLEC (Y4531F +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 582765	NM_201384.3(PLEC):c.13579T>C (p.Tyr4527His)	PLEC (Y4505H +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 538984	NM_201384.3(PLEC):c.13578C>G (p.Gly4526=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 196810	NM_201384.3(PLEC):c.13575G>A (p.Ser4525=)	PLEC	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 956859	NM_201384.3(PLEC):c.13566CTC[2] (p.Ser4525del)	PLEC (S4525del +6 more)	Microsatellite (inframe_deletion)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +4 more	GUncertain significance
Select item 779769	NM_201384.3(PLEC):c.13574C>T (p.Ser4525Leu)	PLEC (S4503L +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 941444	NM_201384.3(PLEC):c.13573T>C (p.Ser4525Pro)	PLEC (S4511P +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2084881	NM_201384.3(PLEC):c.13568C>T (p.Ser4523Phe)	PLEC (S4491F +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2040693	NM_201384.3(PLEC):c.13568C>A (p.Ser4523Tyr)	PLEC (S4501Y +7 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 2952663	NM_201384.3(PLEC):c.13565A>C (p.Tyr4522Ser)	PLEC (Y4508S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 1106582	NM_201384.3(PLEC):c.13563C>T (p.Ser4521=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GLikely benign
Select item 643984	NM_201384.3(PLEC):c.13562C>T (p.Ser4521Phe)	PLEC (S4489F +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 1456769	NM_201384.3(PLEC):c.13557A>T (p.Ser4519=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GLikely benign
Select item 487246	NM_201384.3(PLEC):c.13552T>C (p.Ser4518Pro)	PLEC (S4486P +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +5 more	GUncertain significance
Select item 784765	NM_201384.3(PLEC):c.13551C>T (p.Phe4517=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GLikely benign
Select item 598012	NM_201384.3(PLEC):c.13547C>T (p.Thr4516Ile)	PLEC (T4484I +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 597640	NM_201384.3(PLEC):c.13543A>G (p.Met4515Val)	PLEC (M4515V +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1544880	NM_201384.3(PLEC):c.13536C>T (p.Gly4512=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GLikely benign
Select item 648566	NM_201384.3(PLEC):c.13534G>A (p.Gly4512Ser)	PLEC (G4516S +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 2938560	NM_201384.3(PLEC):c.13533C>A (p.Ser4511=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GLikely benign
Select item 196815	NM_201384.3(PLEC):c.13533C>T (p.Ser4511=)	PLEC	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +5 more	GConflicting classifications of pathogenicity
Select item 1038192	NM_201384.3(PLEC):c.13529G>T (p.Gly4510Val)	PLEC (G4514V +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 583068	NM_201384.3(PLEC):c.13528G>A (p.Gly4510Ser)	PLEC (G4478S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 786415	NM_201384.3(PLEC):c.13527C>T (p.Thr4509=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GLikely benign
Select item 656409	NM_201384.3(PLEC):c.13501_13525del (p.Ser4501fs)	PLEC (S4479fs +6 more)	Deletion (frameshift variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GUncertain significance
Select item 471545	NM_201384.3(PLEC):c.13525A>G (p.Thr4509Ala)	PLEC (T4487A +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 1504043	NM_201384.3(PLEC):c.13522G>A (p.Ala4508Thr)	PLEC (A4512T +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 506441	NM_201384.3(PLEC):c.13521C>T (p.Asp4507=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +5 more	GLikely benign
Select item 942120	NM_201384.3(PLEC):c.13511G>C (p.Gly4504Ala)	PLEC (G4472A +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more	GUncertain significance
Select item 478521	NM_201384.3(PLEC):c.13510G>A (p.Gly4504Ser)	PLEC (G4482S +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +6 more	GUncertain significance
Select item 282203	NM_201384.3(PLEC):c.13509C>T (p.Arg4503=)	PLEC	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2046637	NM_201384.3(PLEC):c.13508G>A (p.Arg4503His)	PLEC (R4489H +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GUncertain significance
Select item 2189880	NM_201384.3(PLEC):c.13507C>T (p.Arg4503Cys)	PLEC (R3403C +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +5 more	GUncertain significance
Select item 2937335	NM_201384.3(PLEC):c.13494_13505dup (p.Arg4502_Arg4503insAlaGlySerArg)	PLEC	Duplication (inframe_insertion)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 1422739	NM_201384.3(PLEC):c.13494_13505del (p.Ala4499_Arg4502del)	PLEC	Deletion (inframe_deletion)	Epidermolysis bullosa simplex with nail dystrophy +5 more	GUncertain significance
Select item 853767	NM_201384.3(PLEC):c.13505G>A (p.Arg4502His)	PLEC (R4470H +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 2085052	NM_201384.3(PLEC):c.13504C>T (p.Arg4502Cys)	PLEC (R4480C +7 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 705125	NM_201384.3(PLEC):c.13500C>T (p.Gly4500=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more	GLikely benign
Select item 2933689	NM_201384.3(PLEC):c.13499G>A (p.Gly4500Asp)	PLEC (G4500D +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 659257	NM_201384.3(PLEC):c.13498G>A (p.Gly4500Ser)	PLEC (G4504S +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 478590	NM_201384.3(PLEC):c.13497C>T (p.Ala4499=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GLikely benign
Select item 649193	NM_201384.3(PLEC):c.13496C>T (p.Ala4499Val)	PLEC (A4477V +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 1008895	NM_201384.3(PLEC):c.13482_13493dup (p.4491TGSR[3])	PLEC	Duplication (inframe_insertion)	Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more	GUncertain significance
Select item 644156	NM_201384.3(PLEC):c.13493G>A (p.Arg4498Gln)	PLEC (R4484Q +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +5 more	GUncertain significance
Select item 487245	NM_201384.3(PLEC):c.13492C>T (p.Arg4498Trp)	PLEC (R4466W +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2178816	NM_201384.3(PLEC):c.13491C>T (p.Ser4497=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GLikely benign
Select item 1050680	NM_201384.3(PLEC):c.13479_13490dup (p.4491TGSR[3])	PLEC	Duplication (inframe_insertion)	Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more	GUncertain significance
Select item 941519	NM_201384.3(PLEC):c.13479_13490del (p.4491TGSR[1])	PLEC	Deletion (inframe_deletion)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 538914	NM_201384.3(PLEC):c.13486G>A (p.Gly4496Ser)	PLEC (G4496S +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 282817	NM_201384.3(PLEC):c.13485C>T (p.Thr4495=)	PLEC	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1382124	NM_201384.3(PLEC):c.13483A>G (p.Thr4495Ala)	PLEC (T4481A +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 647134	NM_201384.3(PLEC):c.13482_13483delinsGG (p.Thr4495Ala)	PLEC (T4463A +6 more)	Indel (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +4 more	GUncertain significance
Select item 1193709	NM_201384.3(PLEC):c.13480C>T (p.Arg4494Cys)	PLEC (R4462C +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +5 more	GUncertain significance
Select item 705298	NM_201384.3(PLEC):c.13479G>C (p.Ser4493=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more	GLikely benign
Select item 285010	NM_201384.3(PLEC):c.13479G>A (p.Ser4493=)	PLEC	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 935007	NM_201384.3(PLEC):c.13478C>T (p.Ser4493Leu)	PLEC (S4461L +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +4 more	GUncertain significance
Select item 593596	NM_201384.3(PLEC):c.13474G>A (p.Gly4492Ser)	PLEC (G4478S +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1132747	NM_201384.3(PLEC):c.13473C>T (p.Thr4491=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GLikely benign
Select item 288999	NM_201384.3(PLEC):c.13471A>G (p.Thr4491Ala)	PLEC (T4469A +6 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 287389	NM_201384.3(PLEC):c.13470C>T (p.Arg4490=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GConflicting classifications of pathogenicity
Select item 448052	NM_201384.3(PLEC):c.13469G>A (p.Arg4490His)	PLEC (R4458H +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +6 more	GUncertain significance
Select item 663182	NM_201384.3(PLEC):c.13468C>T (p.Arg4490Cys)	PLEC (R4490C +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more	GUncertain significance
Select item 283285	NM_201384.3(PLEC):c.13468C>A (p.Arg4490Ser)	PLEC (R4476S +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1439795	NM_201384.3(PLEC):c.13461_13462inv (p.Gly4488Ser)	PLEC (G4515S +6 more)	Inversion (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 93033	NM_201384.3(PLEC):c.13461T>C (p.Ala4487=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +6 more	GBenign
Select item 498663	NM_201384.3(PLEC):c.13459G>A (p.Ala4487Thr)	PLEC (A4455T +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +5 more	GUncertain significance
Select item 497097	NM_201384.3(PLEC):c.13458C>T (p.Thr4486=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 283254	NM_201384.3(PLEC):c.13450G>A (p.Gly4484Ser)	PLEC (G4462S +6 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 471542	NM_201384.3(PLEC):c.13449C>T (p.Ser4483=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 860934	NM_201384.3(PLEC):c.13445G>T (p.Gly4482Val)	PLEC (G4460V +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 471543	NM_201384.3(PLEC):c.13444G>A (p.Gly4482Ser)	PLEC (G4460S +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +6 more	GUncertain significance

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