CN239193[trait identifier] AND "PreventionGenetics, part of Exact Scie - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 583189	NM_213599.3(ANO5):c.53A>G (p.Asn18Ser)	ANO5 (N18S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1133904	NM_213599.3(ANO5):c.181-5T>C	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +2 more	GLikely benign
Select item 2164	NM_213599.3(ANO5):c.191dup (p.Asn64fs)	ANO5 (N63fs +1 more)	Duplication (frameshift variant)	Achilles tendon contracture +12 more	GPathogenic/Likely pathogenic
Select item 96681	NM_213599.3(ANO5):c.267T>C (p.Asp89=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +7 more	GBenign
Select item 281458	NM_213599.3(ANO5):c.279C>T (p.Asp93=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +3 more	GConflicting classifications of pathogenicity
Select item 128391	NM_213599.3(ANO5):c.616A>G (p.Thr206Ala)	ANO5 (T206A +1 more)	Single nucleotide variant (missense variant)	ANO5-Related Muscle Diseases +6 more	GBenign/Likely benign
Select item 1334350	NM_213599.3(ANO5):c.632C>T (p.Ser211Leu)	ANO5 (S210L +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +3 more	GUncertain significance
Select item 2165	NM_213599.3(ANO5):c.692G>T (p.Gly231Val)	ANO5 (G230V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +6 more	GPathogenic/Likely pathogenic
Select item 1125522	NM_213599.3(ANO5):c.966A>G (p.Leu322=)	ANO5	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more	GLikely benign
Select item 2635105	NM_213599.3(ANO5):c.1037T>C (p.Ile346Thr)	ANO5 (I331T +3 more)	Single nucleotide variant (missense variant)	ANO5-related disorder	GUncertain significance
Select item 3040316	NM_213599.3(ANO5):c.1079G>T (p.Cys360Phe)	ANO5 (C345F +3 more)	Single nucleotide variant (missense variant)	ANO5-related disorder	GUncertain significance
Select item 217143	NM_213599.3(ANO5):c.1210C>T (p.Arg404Ter)	ANO5 (R404* +1 more)	Single nucleotide variant (nonsense)	ANO5-related disorder +3 more	GPathogenic
Select item 705208	NM_213599.3(ANO5):c.1254A>G (p.Glu418=)	ANO5	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more	GLikely benign
Select item 1111835	NM_213599.3(ANO5):c.1314A>G (p.Lys438=)	ANO5	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more	GLikely benign
Select item 502665	NM_213599.3(ANO5):c.1332+8A>G	ANO5	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 285221	NM_213599.3(ANO5):c.1364G>A (p.Arg455His)	ANO5 (R455H +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 2635107	NM_213599.3(ANO5):c.1445_1450dup (p.Tyr483_Arg484insLeuTyr)	ANO5	Duplication (inframe_insertion +1 more)	ANO5-related disorder	GUncertain significance
Select item 1147546	NM_213599.3(ANO5):c.1482C>T (p.Phe494=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +2 more	GLikely benign
Select item 194687	NM_213599.3(ANO5):c.1800+5G>A	ANO5	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 304103	NM_213599.3(ANO5):c.1801-9T>C	ANO5	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +6 more	GConflicting classifications of pathogenicity
Select item 3047956	NM_213599.3(ANO5):c.2043A>G (p.Gly681=)	ANO5	Single nucleotide variant (synonymous variant)	ANO5-related disorder	GLikely benign
Select item 304105	NM_213599.3(ANO5):c.2139C>T (p.Thr713=)	ANO5	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +6 more	GConflicting classifications of pathogenicity
Select item 195543	NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu)	ANO5 (S796L +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 497102	NM_213599.3(ANO5):c.2470del (p.Gln824fs)	ANO5 (Q824fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2630016	NM_213599.3(ANO5):c.2587G>A (p.Glu863Lys)	ANO5 (E848K +3 more)	Single nucleotide variant (missense variant)	ANO5-related disorder +2 more	GUncertain significance

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Items: 25