25925[HGNC] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155465	GRCh38/hg38 12q24.13-24.21(chr12:113077775-114372366)x1	CFAP73, DDX54 +68 more	Copy number loss	See cases	GPathogenic
Select item 2643352	NM_032848.3(RITA1):c.45C>T (p.Leu15=)	RITA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3314564	NM_032848.3(RITA1):c.76C>T (p.Arg26Trp)	RITA1 (R50W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314565	NM_032848.3(RITA1):c.217G>C (p.Ala73Pro)	RITA1 (A73P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314566	NM_032848.3(RITA1):c.266C>T (p.Thr89Ile)	RITA1 (T113I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366941	NM_032848.3(RITA1):c.268C>T (p.Pro90Ser)	RITA1 (P114S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246156	NM_032848.3(RITA1):c.274C>G (p.Leu92Val)	RITA1 (L92V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336733	NM_032848.3(RITA1):c.353G>A (p.Arg118Gln)	RITA1 (R118Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314563	NM_032848.3(RITA1):c.428C>T (p.Thr143Met)	RITA1 (T143M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402462	NM_032848.3(RITA1):c.439A>G (p.Thr147Ala)	RITA1 (T147A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154718	NM_032848.3(RITA1):c.458C>T (p.Ser153Leu)	RITA1 (S177L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292675	NM_032848.3(RITA1):c.493C>T (p.His165Tyr)	RITA1 (H165Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225456	NM_032848.3(RITA1):c.535G>A (p.Asp179Asn)	RITA1 (D179N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154719	NM_032848.3(RITA1):c.650C>G (p.Ala217Gly)	RITA1 (A217G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154720	NM_032848.3(RITA1):c.767G>A (p.Arg256Gln)	RITA1 (R280Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3154721	NM_032848.3(RITA1):c.770G>A (p.Arg257Gln)	RITA1 (R281Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1527733	GRCh37/hg19 12q24.13-24.21(chr12:113445811-114933860)	CFAP73, DDX54 +13 more	Copy number loss	not specified	GPathogenic
Select item 1340934	GRCh37/hg19 12q24.13(chr12:113622666-113848323)x3	DDX54, IQCD +5 more	Copy number gain	not provided	GLikely benign
Select item 1252006	NC_000012.11:g.113120652_115362584del	CFAP73, DDX54 +17 more	Deletion	Radial dysplasia +1 more	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 23