3909[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 155008	GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3	LOC130062208, LOC130062209 +322 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	ABHD3, ANKRD29 +282 more	Copy number gain	See cases	GPathogenic
Select item 58758	GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)x3	ABHD3, ANKRD29 +204 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 153056	GRCh38/hg38 18q11.2(chr18:23477183-23753724)x1	ANKRD29, LAMA3 +19 more	Copy number loss	See cases	GUncertain significance
Select item 551414	NM_198129.4(LAMA3):c.18del (p.Pro7fs)	LAMA3 (P7fs)	Deletion (frameshift variant +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 3289922	NM_198129.4(LAMA3):c.26G>A (p.Gly9Asp)	LAMA3 (G9D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3289903	NM_198129.4(LAMA3):c.53C>G (p.Pro18Arg)	LAMA3 (P18R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1166874	NM_198129.4(LAMA3):c.57G>C (p.Thr19=)	LAMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1710791	NM_198129.4(LAMA3):c.79C>A (p.Arg27=)	LAMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2393286	NM_198129.4(LAMA3):c.82G>A (p.Val28Met)	LAMA3 (V28M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2461691	NM_198129.4(LAMA3):c.97G>C (p.Gly33Arg)	LAMA3 (G33R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2199103	NM_198129.4(LAMA3):c.120G>A (p.Gly40=)	LAMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2315060	NM_198129.4(LAMA3):c.130G>C (p.Gly44Arg)	LAMA3 (G44R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2648621	NM_198129.4(LAMA3):c.147G>A (p.Pro49=)	LAMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2071994	NM_198129.4(LAMA3):c.160C>T (p.Leu54=)	LAMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2299179	NM_198129.4(LAMA3):c.212C>T (p.Pro71Leu)	LAMA3 (P71L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304864	NM_198129.4(LAMA3):c.226C>A (p.Pro76Thr)	LAMA3 (P76T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3117439	NM_198129.4(LAMA3):c.253G>A (p.Val85Ile)	LAMA3 (V85I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 764266	NM_198129.4(LAMA3):c.267C>T (p.Thr89=)	LAMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2614869	NM_198129.4(LAMA3):c.277A>G (p.Ser93Gly)	LAMA3 (S93G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1238740	NM_198129.4(LAMA3):c.294+47G>T	LAMA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261977	NM_198129.4(LAMA3):c.294+230A>C	LAMA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 763328	NM_198129.4(LAMA3):c.312T>C (p.Tyr104=)	LAMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2259941	NM_198129.4(LAMA3):c.335A>G (p.Lys112Arg)	LAMA3 (K112R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234099	NM_198129.4(LAMA3):c.365G>A (p.Gly122Glu)	LAMA3 (G122E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3117452	NM_198129.4(LAMA3):c.374G>A (p.Arg125His)	LAMA3 (R125H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342240	NM_198129.4(LAMA3):c.389C>G (p.Pro130Arg)	LAMA3 (P130R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 554427	NM_198129.4(LAMA3):c.394del (p.Leu132fs)	LAMA3 (L132fs)	Deletion (frameshift variant +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 3289896	NM_198129.4(LAMA3):c.416A>G (p.Asn139Ser)	LAMA3 (N139S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3117468	NM_198129.4(LAMA3):c.431C>G (p.Thr144Ser)	LAMA3 (T144S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1666850	NM_198129.4(LAMA3):c.433T>C (p.Leu145=)	LAMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3355835	NM_198129.4(LAMA3):c.447+9C>T	LAMA3	Single nucleotide variant (intron variant)	LAMA3-related disorder	GLikely benign
Select item 3117477	NM_198129.4(LAMA3):c.523G>C (p.Val175Leu)	LAMA3 (V175L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1184702	NM_198129.4(LAMA3):c.565+64G>T	LAMA3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 549966	NM_198129.4(LAMA3):c.566-1G>A	LAMA3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 553765	NM_198129.4(LAMA3):c.584T>G (p.Leu195Ter)	LAMA3 (L195*)	Single nucleotide variant (nonsense +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 1131497	NM_198129.4(LAMA3):c.588A>G (p.Lys196=)	LAMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2042886	NM_198129.4(LAMA3):c.599G>A (p.Arg200Gln)	LAMA3 (R200Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2341236	NM_198129.4(LAMA3):c.609T>A (p.Asn203Lys)	LAMA3 (N203K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1230929	NM_198129.4(LAMA3):c.684+67A>G	LAMA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2240323	NM_198129.4(LAMA3):c.726T>A (p.Asn242Lys)	LAMA3 (N242K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 553414	NM_198129.4(LAMA3):c.734del (p.Phe245fs)	LAMA3 (F245fs)	Deletion (frameshift variant +2 more)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GUncertain significance
Select item 759879	NM_198129.4(LAMA3):c.744C>T (p.Thr248=)	LAMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3117480	NM_198129.4(LAMA3):c.775C>T (p.Arg259Cys)	LAMA3 (R259C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2634340	NM_198129.4(LAMA3):c.781C>T (p.Arg261Cys)	LAMA3 (R261C)	Single nucleotide variant (missense variant +1 more)	LAMA3-related disorder +1 more	GUncertain significance
Select item 2529562	NM_198129.4(LAMA3):c.793A>G (p.Thr265Ala)	LAMA3 (T265A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3289901	NM_198129.4(LAMA3):c.797A>G (p.Asn266Ser)	LAMA3 (N266S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510625	NM_198129.4(LAMA3):c.833G>A (p.Arg278Gln)	LAMA3 (R278Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1199327	NM_198129.4(LAMA3):c.839C>T (p.Pro280Leu)	LAMA3 (P280L)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GUncertain significance
Select item 1097022	NM_198129.4(LAMA3):c.855+8G>A	LAMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229615	NM_198129.4(LAMA3):c.856-167T>C	LAMA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 793063	NM_198129.4(LAMA3):c.856-5T>C	LAMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 553175	NM_198129.4(LAMA3):c.856-2A>G	LAMA3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GUncertain significance
Select item 782043	NM_198129.4(LAMA3):c.891G>A (p.Gly297=)	LAMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 554383	NM_198129.4(LAMA3):c.916G>T (p.Glu306Ter)	LAMA3 (E306*)	Single nucleotide variant (nonsense +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 557786	NM_198129.4(LAMA3):c.938del (p.Pro313fs)	LAMA3 (P313fs)	Deletion (frameshift variant +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 1184633	NM_198129.4(LAMA3):c.948-84C>T	LAMA3	Single nucleotide variant (intron variant)	Laryngo-onycho-cutaneous syndrome +3 more	GBenign
Select item 1157833	NM_198129.4(LAMA3):c.948-5C>A	LAMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2395549	NM_198129.4(LAMA3):c.952C>T (p.Arg318Trp)	LAMA3 (R318W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2648622	NM_198129.4(LAMA3):c.994C>T (p.Arg332Cys)	LAMA3 (R332C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2204213	NM_198129.4(LAMA3):c.1012A>G (p.Asn338Asp)	LAMA3 (N338D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385675	NM_198129.4(LAMA3):c.1028G>A (p.Arg343Gln)	LAMA3 (R343Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 739326	NM_198129.4(LAMA3):c.1032C>T (p.Pro344=)	LAMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1126261	NM_198129.4(LAMA3):c.1035C>T (p.Ala345=)	LAMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 553415	NM_198129.4(LAMA3):c.1054G>T (p.Glu352Ter)	LAMA3 (E352*)	Single nucleotide variant (nonsense +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 1247299	NM_198129.4(LAMA3):c.1064-230A>T	LAMA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1184634	NM_198129.4(LAMA3):c.1064-15A>G	LAMA3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GBenign
Select item 551564	NM_198129.4(LAMA3):c.1064-2A>G	LAMA3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 557988	NM_198129.4(LAMA3):c.1064-1G>A	LAMA3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GUncertain significance
Select item 1101747	NM_198129.4(LAMA3):c.1077C>T (p.His359=)	LAMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3117418	NM_198129.4(LAMA3):c.1088G>A (p.Ser363Asn)	LAMA3 (S363N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2634412	NM_198129.4(LAMA3):c.1117C>T (p.Arg373Trp)	LAMA3 (R373W)	Single nucleotide variant (missense variant +1 more)	LAMA3-related disorder	GUncertain significance
Select item 780476	NM_198129.4(LAMA3):c.1130G>A (p.Ser377Asn)	LAMA3 (S377N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3289913	NM_198129.4(LAMA3):c.1132T>A (p.Leu378Met)	LAMA3 (L378M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 737454	NM_198129.4(LAMA3):c.1154C>A (p.Ala385Asp)	LAMA3 (A385D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 762796	NM_198129.4(LAMA3):c.1158T>C (p.Gly386=)	LAMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1184635	NM_198129.4(LAMA3):c.1183-110C>T	LAMA3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GBenign
Select item 770647	NM_198129.4(LAMA3):c.1196G>C (p.Gly399Ala)	LAMA3 (G399A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3117420	NM_198129.4(LAMA3):c.1226A>G (p.Tyr409Cys)	LAMA3 (Y409C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2720140	NM_198129.4(LAMA3):c.1273+1G>A	LAMA3 (R425H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3239675	NM_198129.4(LAMA3):c.1273+26_1273+41del	LAMA3 (L434fs)	Deletion (frameshift variant +1 more)	Epidermolysis bullosa, junctional 2A, intermediate	GPathogenic
Select item 3039514	NM_198129.4(LAMA3):c.1273+51C>T	LAMA3 (R442*)	Single nucleotide variant (nonsense +1 more)	Epidermolysis bullosa, junctional 2A, intermediate	GPathogenic
Select item 1277728	NM_198129.4(LAMA3):c.1273+126C>T	LAMA3 (R467C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3048438	NM_198129.4(LAMA3):c.1273+143C>T	LAMA3	Single nucleotide variant (synonymous variant +1 more)	LAMA3-related disorder	GLikely benign
Select item 1244039	NM_198129.4(LAMA3):c.1274-172C>T	LAMA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 592144	NM_198129.4(LAMA3):c.1283G>C (p.Cys428Ser)	LAMA3 (C428S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1089129	NM_198129.4(LAMA3):c.1299G>A (p.Ala433=)	LAMA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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