"GeneDx"[submitter] AND "CABP4"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58892	GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1	ACY3, AIP +129 more	Copy number loss	See cases	GPathogenic
Select item 1259072	NM_001300896.3(CABP4):c.-112-575A>C	CABP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 190960	NM_145200.5(CABP4):c.81_82insA (p.Pro28fs)	CABP4 (P28fs)	Insertion (5 prime UTR variant +3 more)	not provided +1 more	GPathogenic
Select item 166762	NM_145200.5(CABP4):c.192C>T (p.Pro64=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not specified +2 more	GBenign
Select item 1953	NM_145200.5(CABP4):c.370C>T (p.Arg124Cys)	CABP4 (R124C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1701015	NM_145200.5(CABP4):c.388G>A (p.Glu130Lys)	CABP4 (E130K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 305652	NM_145200.5(CABP4):c.522G>A (p.Ser174=)	CABP4	Single nucleotide variant (synonymous variant)	Cone-rod synaptic disorder, congenital nonprogressive +1 more	GConflicting classifications of pathogenicity
Select item 1227687	NM_145200.5(CABP4):c.541+7_541+8del	CABP4	Deletion (intron variant)	not provided	GBenign
Select item 305654	NM_145200.5(CABP4):c.541+7C>G	CABP4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 305655	NM_145200.5(CABP4):c.541+8A>C	CABP4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1269567	NM_145200.5(CABP4):c.541+88C>G	CABP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282048	NM_145200.5(CABP4):c.542-205G>C	CABP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247835	NM_145200.5(CABP4):c.542-56C>T	CABP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 190959	NM_145200.5(CABP4):c.646C>T (p.Arg216Ter)	CABP4 (R216* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1236209	NM_145200.5(CABP4):c.651+151A>C	CABP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205513	NM_145200.5(CABP4):c.651+246T>G	CABP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1297761	NM_145200.5(CABP4):c.652-95AAATA[3]	CABP4	Microsatellite (intron variant)	not provided	GBenign
Select item 1193637	NM_145200.5(CABP4):c.800-37C>T	CABP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 262580	NM_145200.5(CABP4):c.800-5C>T	CABP4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1952	NM_145200.3(CABP4):c.800_801delAG	CABP4	Microsatellite	not provided	GPathogenic/Likely pathogenic
Select item 305663	NM_145200.5(CABP4):c.*119T>G	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	GRK2, LRFN4 +57 more	Copy number gain	See cases	GUncertain significance

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Items: 22