"PreventionGenetics, part of Exact Sciences"[submitter] AND "ANLN"[gen - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3054444	NM_018685.5(ANLN):c.9G>C (p.Pro3=)	ANLN, MATCAP2 (R14G)	Single nucleotide variant (missense variant +1 more)	ANLN-related disorder	GLikely benign
Select item 1036499	NM_018685.5(ANLN):c.95G>A (p.Arg32Lys)	ANLN (R32K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1437192	NM_018685.5(ANLN):c.140C>G (p.Ala47Gly)	ANLN (A47G)	Single nucleotide variant (missense variant)	ANLN-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1165103	NM_018685.5(ANLN):c.434G>A (p.Arg145His)	ANLN (R145H)	Single nucleotide variant (missense variant)	ANLN-related disorder +1 more	GBenign/Likely benign
Select item 261050	NM_018685.5(ANLN):c.553A>C (p.Arg185=)	ANLN	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 8 +2 more	GBenign
Select item 261051	NM_018685.5(ANLN):c.554G>A (p.Arg185Lys)	ANLN (R185K)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 8 +2 more	GBenign
Select item 2074492	NM_018685.5(ANLN):c.643G>A (p.Asp215Asn)	ANLN (D215N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 972322	NM_018685.5(ANLN):c.752G>A (p.Ser251Asn)	ANLN (S251N)	Single nucleotide variant (missense variant)	ANLN-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3030756	NM_018685.5(ANLN):c.873+9G>C	ANLN	Single nucleotide variant (intron variant)	ANLN-related disorder	GLikely benign
Select item 261052	NM_018685.5(ANLN):c.883_885dup (p.Ser295dup)	ANLN	Duplication (inframe_insertion)	not provided +2 more	GBenign
Select item 744018	NM_018685.5(ANLN):c.1017C>T (p.Ser339=)	ANLN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 746021	NM_018685.5(ANLN):c.1101A>G (p.Gly367=)	ANLN	Single nucleotide variant (synonymous variant)	ANLN-related disorder +1 more	GLikely benign
Select item 3030153	NM_018685.5(ANLN):c.1288-10A>T	ANLN	Single nucleotide variant (intron variant)	ANLN-related disorder	GLikely benign
Select item 1111510	NM_018685.5(ANLN):c.1360G>A (p.Gly454Arg)	ANLN (G454R)	Single nucleotide variant (missense variant)	ANLN-related disorder +1 more	GLikely benign
Select item 2413707	NM_018685.5(ANLN):c.1632T>C (p.Ile544=)	ANLN	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1420973	NM_018685.5(ANLN):c.1787A>G (p.Glu596Gly)	ANLN (E596G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2630231	NM_018685.5(ANLN):c.1978G>A (p.Asp660Asn)	ANLN (D622N +2 more)	Single nucleotide variant (missense variant)	ANLN-related disorder	GUncertain significance
Select item 1104647	NM_018685.5(ANLN):c.2462C>T (p.Thr821Met)	ANLN (T783M +2 more)	Single nucleotide variant (missense variant)	ANLN-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 727301	NM_018685.5(ANLN):c.2476+9G>A	ANLN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1587848	NM_018685.5(ANLN):c.2481A>G (p.Ala827=)	ANLN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1583311	NM_018685.5(ANLN):c.2521G>A (p.Glu841Lys)	ANLN (E803K +2 more)	Single nucleotide variant (missense variant)	ANLN-related disorder +1 more	GBenign
Select item 3031106	NM_018685.5(ANLN):c.2528T>C (p.Met843Thr)	ANLN (M805T +2 more)	Single nucleotide variant (missense variant)	ANLN-related disorder	GUncertain significance
Select item 1590924	NM_018685.5(ANLN):c.2595A>G (p.Thr865=)	ANLN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 720307	NM_018685.5(ANLN):c.2817C>T (p.Phe939=)	ANLN	Single nucleotide variant (synonymous variant)	ANLN-related disorder +1 more	GBenign/Likely benign
Select item 261049	NM_018685.5(ANLN):c.2883+18C>A	ANLN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2170448	NM_018685.5(ANLN):c.3119G>A (p.Arg1040His)	ANLN (R1040H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1087454	NM_018685.5(ANLN):c.3323A>G (p.Asp1108Gly)	ANLN (D1070G +2 more)	Single nucleotide variant (missense variant)	ANLN-related disorder +1 more	GLikely benign
Select item 1154941	NM_018685.5(ANLN):c.3325A>G (p.Ile1109Val)	ANLN (I1071V +2 more)	Single nucleotide variant (missense variant)	ANLN-related disorder +2 more	GBenign/Likely benign

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Items: 28