ClinVar for Gene (Select 1431) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3077944	NM_004077.3(CS):c.971C>T (p.Ser324Leu)	CS (S324L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077942	NM_004077.3(CS):c.653G>A (p.Arg218Gln)	CS (R218Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077941	NM_004077.3(CS):c.527A>G (p.Asn176Ser)	CS (N176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077940	NM_004077.3(CS):c.274C>T (p.Arg92Cys)	CS (R92C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077939	NM_004077.3(CS):c.22G>T (p.Ala8Ser)	CS, LOC130008071 (A8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077938	NM_004077.3(CS):c.215T>C (p.Met72Thr)	CS (M72T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077937	NM_004077.3(CS):c.204G>A (p.Met68Ile)	CS (M68I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607426	NM_004077.3(CS):c.1121T>C (p.Phe374Ser)	CS (F374S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569259	NM_004077.3(CS):c.578A>C (p.Lys193Thr)	CS (K193T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547458	NM_004077.3(CS):c.1319G>A (p.Arg440Gln)	CS (R440Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350874	NM_004077.3(CS):c.5C>G (p.Ala2Gly)	CS, LOC130008071 (A2G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326527	NM_004077.3(CS):c.1250T>G (p.Met417Arg)	CS (M417R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266604	NM_004077.3(CS):c.572G>A (p.Arg191Gln)	CS (R191Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210263	NM_004077.3(CS):c.1019G>A (p.Arg340Gln)	CS (R340Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207569	NM_004077.3(CS):c.184C>G (p.Gln62Glu)	CS (Q62E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707467	Single allele	ANKRD52, APOF +124 more	Duplication	not specified	GUncertain significance
Select item 1527711	GRCh37/hg19 12q13.2-13.3(chr12:56333262-57010442)	ANKRD52, APOF +30 more	Copy number gain	not specified	GUncertain significance
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 777689	NM_004077.3(CS):c.769C>T (p.Leu257=)	CS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 737271	NM_004077.3(CS):c.174G>A (p.Thr58=)	CS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728964	NM_004077.3(CS):c.288T>C (p.Phe96=)	CS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708211	NM_004077.3(CS):c.1388C>T (p.Ser463Phe)	CS (S463F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 26