Related gene-specific medical variations for Gene (Select 126862685) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2591457	NM_005559.4(LAMA1):c.7748C>G (p.Ala2583Gly)	LAMA1, LOC126862685 (A2583G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589351	NM_005559.4(LAMA1):c.7706C>T (p.Ala2569Val)	LAMA1, LOC126862685 (A2569V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486087	NM_005559.4(LAMA1):c.7688G>C (p.Gly2563Ala)	LAMA1, LOC126862685 (G2563A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253438	NM_005559.4(LAMA1):c.7774C>T (p.Arg2592Trp)	LAMA1, LOC126862685 (R2592W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2086183	NM_005559.4(LAMA1):c.7639G>A (p.Val2547Ile)	LAMA1, LOC126862685 (V2547I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2056423	NM_005559.4(LAMA1):c.7764G>C (p.Leu2588Phe)	LAMA1, LOC126862685 (L2588F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019646	NM_005559.4(LAMA1):c.7628_7632del (p.Pro2543fs)	LAMA1, LOC126862685 (P2543fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1977275	NM_005559.4(LAMA1):c.7678C>T (p.Pro2560Ser)	LAMA1, LOC126862685 (P2560S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968414	NM_005559.4(LAMA1):c.7627-15A>G	LAMA1, LOC126862685	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1916055	NM_005559.4(LAMA1):c.7725G>A (p.Thr2575=)	LAMA1, LOC126862685	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1804770	NM_005559.4(LAMA1):c.7779-13A>G	LAMA1, LOC126862685	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1670541	NM_005559.4(LAMA1):c.7778+10C>T	LAMA1, LOC126862685	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665902	NM_005559.4(LAMA1):c.7763T>C (p.Leu2588Ser)	LAMA1, LOC126862685 (L2588S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1633314	NM_005559.4(LAMA1):c.7785C>A (p.Ile2595=)	LAMA1, LOC126862685	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1578732	NM_005559.4(LAMA1):c.7778+11G>A	LAMA1, LOC126862685	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1422652	NM_005559.4(LAMA1):c.7670A>C (p.His2557Pro)	LAMA1, LOC126862685 (H2557P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1370338	NM_005559.4(LAMA1):c.7748C>T (p.Ala2583Val)	LAMA1, LOC126862685 (A2583V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1168770	NM_005559.4(LAMA1):c.7778+12C>T	LAMA1, LOC126862685	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 789235	NM_005559.4(LAMA1):c.7724C>T (p.Thr2575Met)	LAMA1, LOC126862685 (T2575M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 786330	NM_005559.4(LAMA1):c.7674C>G (p.Val2558=)	LAMA1, LOC126862685	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786329	NM_005559.4(LAMA1):c.7716C>T (p.His2572=)	LAMA1, LOC126862685	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786328	NM_005559.4(LAMA1):c.7736G>A (p.Ser2579Asn)	LAMA1, LOC126862685 (S2579N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 732516	NM_005559.4(LAMA1):c.7659C>G (p.Asn2553Lys)	LOC126862685, LAMA1 (N2553K)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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Links from Gene

Items: 23