37100[HGNC] - ClinVar

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

Search results

Items: 43

	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 2643350	NM_001144872.3(CFAP73):c.5C>T (p.Ala2Val)	CFAP73 (A2V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2375445	NM_001144872.3(CFAP73):c.23A>G (p.Tyr8Cys)	CFAP73 (Y8C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388032	NM_001144872.3(CFAP73):c.29G>T (p.Arg10Leu)	CFAP73 (R10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143658	NM_001144872.3(CFAP73):c.77A>G (p.Glu26Gly)	CFAP73 (E26G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266521	NM_001144872.3(CFAP73):c.78G>C (p.Glu26Asp)	CFAP73 (E26D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377101	NM_001144872.3(CFAP73):c.100C>T (p.Arg34Cys)	CFAP73 (R34C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266522	NM_001144872.3(CFAP73):c.119A>G (p.Gln40Arg)	CFAP73 (Q40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143651	NM_001144872.3(CFAP73):c.287A>G (p.Asn96Ser)	CFAP73 (N96S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143652	NM_001144872.3(CFAP73):c.340G>A (p.Val114Met)	CFAP73 (V114M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143654	NM_001144872.3(CFAP73):c.511G>A (p.Ala171Thr)	CFAP73 (A171T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143655	NM_001144872.3(CFAP73):c.524C>T (p.Ala175Val)	CFAP73 (A175V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143656	NM_001144872.3(CFAP73):c.698A>G (p.Lys233Arg)	CFAP73 (K233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531515	NM_001144872.3(CFAP73):c.703A>G (p.Ile235Val)	CFAP73 (I235V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143657	NM_001144872.3(CFAP73):c.730A>G (p.Lys244Glu)	CFAP73 (K244E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643351	NM_001144872.3(CFAP73):c.771C>T (p.Asn257=)	CFAP73	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2488020	NM_001144872.3(CFAP73):c.776T>A (p.Phe259Tyr)	CFAP73 (F259Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266523	NM_001144872.3(CFAP73):c.797A>G (p.Gln266Arg)	CFAP73 (Q266R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387371	NM_001144872.3(CFAP73):c.830C>T (p.Thr277Met)	CFAP73 (T277M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548005	NM_001144872.3(CFAP73):c.844G>C (p.Glu282Gln)	CFAP73 (E282Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620641	NM_024072.4(DDX54):c.2633G>A (p.Arg878Gln)	CFAP73, DDX54 (R878Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3081139	NM_024072.4(DDX54):c.2632C>T (p.Arg878Trp)	CFAP73, DDX54 (R878W +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2394024	NM_024072.4(DDX54):c.2624G>A (p.Gly875Asp)	CFAP73, DDX54 (G876D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3081138	NM_024072.4(DDX54):c.2603G>A (p.Arg868Gln)	CFAP73, DDX54 (R868Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3081137	NM_024072.4(DDX54):c.2593G>T (p.Ala865Ser)	CFAP73, DDX54 (A865S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2459558	NM_024072.4(DDX54):c.2591G>T (p.Gly864Val)	CFAP73, DDX54 (G865V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3040986	NM_024072.4(DDX54):c.2570G>A (p.Arg857His)	CFAP73, DDX54 (R857H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	DDX54-related disorder	GLikely benign
Select item 2311895	NM_024072.4(DDX54):c.2539C>G (p.Leu847Val)	CFAP73, DDX54 (L847V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 983407	NM_024072.4(DDX54):c.2537G>T (p.Gly846Val)	CFAP73, DDX54 (G846V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability	GUncertain significance
Select item 2227509	NM_024072.4(DDX54):c.2531G>A (p.Arg844His)	CFAP73, DDX54 (R845H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3271371	NM_024072.4(DDX54):c.2530C>T (p.Arg844Cys)	CFAP73, DDX54 (R845C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1325619	NM_024072.4(DDX54):c.2500C>T (p.Arg834Cys)	DDX54, CFAP73 (R834C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	See cases	GUncertain significance
Select item 2495981	NM_024072.4(DDX54):c.2483A>G (p.Gln828Arg)	CFAP73, DDX54 (Q828R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3056831	NM_024072.4(DDX54):c.2462C>T (p.Pro821Leu)	CFAP73, DDX54 (P821L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	DDX54-related disorder	GBenign
Select item 2253837	NM_024072.4(DDX54):c.2453G>A (p.Arg818Gln)	CFAP73, DDX54 (R818Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3081134	NM_024072.4(DDX54):c.2423G>A (p.Arg808Gln)	CFAP73, DDX54 (R809Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3081133	NM_024072.4(DDX54):c.2414G>A (p.Gly805Asp)	CFAP73, DDX54 (G805D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1527733	GRCh37/hg19 12q24.13-24.21(chr12:113445811-114933860)	CFAP73, DDX54 +13 more	Copy number loss	not specified	GPathogenic
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

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: 43