"Baylor Genetics"[submitter] AND "LAMA1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028396	NM_005559.4(LAMA1):c.8263A>G (p.Met2755Val)	LAMA1 (M2755V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 782553	NM_005559.4(LAMA1):c.8253G>A (p.Leu2751=)	LAMA1	Single nucleotide variant (synonymous variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1711894	NM_005559.4(LAMA1):c.7213G>A (p.Asp2405Asn)	LAMA1 (D2405N)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1028395	NM_005559.4(LAMA1):c.7187G>A (p.Arg2396Gln)	LAMA1 (R2396Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1028394	NM_005559.4(LAMA1):c.7181G>A (p.Arg2394Gln)	LAMA1 (R2394Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1028393	NM_005559.4(LAMA1):c.7124C>T (p.Thr2375Ile)	LAMA1 (T2375I)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 1030939	NM_005559.4(LAMA1):c.6779C>A (p.Ser2260Tyr)	LAMA1 (S2260Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030938	NM_005559.4(LAMA1):c.6557C>A (p.Ser2186Tyr)	LAMA1 (S2186Y)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 1032336	NM_005559.4(LAMA1):c.6050C>T (p.Ser2017Phe)	LAMA1 (S2017F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030937	NM_005559.4(LAMA1):c.6029A>G (p.Lys2010Arg)	LAMA1 (K2010R)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 1030936	NM_005559.4(LAMA1):c.5726T>C (p.Ile1909Thr)	LAMA1 (I1909T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2582654	NM_005559.4(LAMA1):c.5700dup (p.Ser1901fs)	LAMA1 (S1901fs)	Duplication (frameshift variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic
Select item 1030935	NM_005559.4(LAMA1):c.5660+5G>T	LAMA1	Single nucleotide variant (intron variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GUncertain significance
Select item 1030934	NM_005559.4(LAMA1):c.5584A>G (p.Arg1862Gly)	LAMA1 (R1862G)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GUncertain significance
Select item 1030933	NM_005559.4(LAMA1):c.4555G>C (p.Gly1519Arg)	LAMA1 (G1519R)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1032335	NM_005559.4(LAMA1):c.4204C>T (p.Pro1402Ser)	LAMA1 (P1402S)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GConflicting classifications of pathogenicity
Select item 789455	NM_005559.4(LAMA1):c.3745G>A (p.Val1249Ile)	LAMA1 (V1249I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1030932	NM_005559.4(LAMA1):c.3687+4A>C	LAMA1	Single nucleotide variant (intron variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GUncertain significance
Select item 1030931	NM_005559.4(LAMA1):c.3364-4G>T	LAMA1	Single nucleotide variant (intron variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 498403	NM_005559.4(LAMA1):c.3256G>A (p.Asp1086Asn)	LAMA1 (D1086N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1030930	NM_005559.4(LAMA1):c.3191A>C (p.Gln1064Pro)	LAMA1 (Q1064P)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 1032332	NM_005559.4(LAMA1):c.2856C>G (p.Asn952Lys)	LAMA1 (N952K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1030929	NM_005559.4(LAMA1):c.2524C>T (p.Pro842Ser)	LAMA1 (P842S)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GUncertain significance
Select item 1189756	NM_005559.4(LAMA1):c.2274+3G>T	LAMA1	Single nucleotide variant (intron variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GUncertain significance
Select item 1032331	NM_005559.4(LAMA1):c.1862C>T (p.Thr621Ile)	LAMA1 (T621I)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 1032330	NM_005559.4(LAMA1):c.1846G>A (p.Gly616Arg)	LAMA1 (G616R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 777268	NM_005559.4(LAMA1):c.1792G>C (p.Glu598Gln)	LAMA1 (E598Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1030928	NM_005559.4(LAMA1):c.1619C>T (p.Pro540Leu)	LAMA1 (P540L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2582348	NM_005559.4(LAMA1):c.1211C>A (p.Ser404Tyr)	LAMA1 (S404Y)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 1032334	NM_005559.4(LAMA1):c.371T>C (p.Ile124Thr)	LAMA1 (I124T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 30