"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "LAMA3"[gen - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 744467	NM_198129.4(LAMA3):c.1571G>A (p.Arg524His)	LAMA3 (R524H)	Single nucleotide variant (missense variant +1 more)	LAMA3-related disorder +1 more	GLikely benign
Select item 2648623	NM_198129.4(LAMA3):c.1812T>C (p.His604=)	LAMA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076943	NM_198129.4(LAMA3):c.1901A>G (p.His634Arg)	LAMA3 (H634R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2076944	NM_198129.4(LAMA3):c.2206G>A (p.Gly736Ser)	LAMA3 (G736S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1694867	NM_198129.4(LAMA3):c.2282A>T (p.Tyr761Phe)	LAMA3 (Y761F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1106255	NM_198129.4(LAMA3):c.2809C>T (p.Leu937Phe)	LAMA3 (L937F)	Single nucleotide variant (missense variant)	LAMA3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1137021	NM_198129.4(LAMA3):c.2919T>C (p.Asp973=)	LAMA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 730236	NM_198129.4(LAMA3):c.3171T>C (p.Tyr1057=)	LAMA3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1169753	NM_198129.4(LAMA3):c.3371T>G (p.Leu1124Arg)	LAMA3 (L1124R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2074429	NM_198129.4(LAMA3):c.3932C>T (p.Pro1311Leu)	LAMA3 (P1311L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 782044	NM_198129.4(LAMA3):c.4060G>A (p.Glu1354Lys)	LAMA3 (E1354K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 771209	NM_198129.4(LAMA3):c.4110G>A (p.Glu1370=)	LAMA3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 786338	NM_198129.4(LAMA3):c.4160G>A (p.Arg1387Gln)	LAMA3 (R1387Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 722472	NM_198129.4(LAMA3):c.4557C>T (p.Val1519=)	LAMA3	Single nucleotide variant (synonymous variant)	LAMA3-related disorder +4 more	GBenign/Likely benign
Select item 326291	NM_000227.6(LAMA3):c.30C>T (p.Cys10=)	LAMA3, LOC126862707	Single nucleotide variant (synonymous variant +1 more)	Laryngo-onycho-cutaneous syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2073273	NM_198129.4(LAMA3):c.5047C>T (p.Arg1683Trp)	LAMA3 (R1683W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 741093	NM_198129.4(LAMA3):c.5941C>T (p.Arg1981Trp)	LAMA3 (R1981W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 751543	NM_198129.4(LAMA3):c.6389C>T (p.Ser2130Phe)	LAMA3 (S2130F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1108269	NM_198129.4(LAMA3):c.6567C>T (p.Ala2189=)	LAMA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708962	NM_198129.4(LAMA3):c.8028C>T (p.Asn2676=)	LAMA3	Single nucleotide variant (synonymous variant)	LAMA3-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 742617	NM_198129.4(LAMA3):c.8069A>G (p.Gln2690Arg)	LAMA3 (Q1025R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 795427	NM_198129.4(LAMA3):c.8526G>A (p.Thr2842=)	LAMA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 326335	NM_198129.4(LAMA3):c.8629C>T (p.His2877Tyr)	LAMA3 (H2877Y +3 more)	Single nucleotide variant (missense variant)	LAMA3-related disorder +3 more	GBenign/Likely benign

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Items: 27