"GeneDx"[submitter] AND "CABP2"[gene] - ClinVar

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Items: 38

	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 817309	NM_016366.2(CABP2):c.638_639delAG	CABP2	Microsatellite	not provided	GLikely pathogenic
Select item 1272043	NM_016366.3(CABP2):c.638-33A>G	CABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 597198	NM_016366.3(CABP2):c.637+1G>T	CABP2	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 93 +2 more	GPathogenic/Likely pathogenic
Select item 667198	NM_016366.3(CABP2):c.590T>C (p.Ile197Thr)	CABP2 (I203T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1329618	NM_016366.3(CABP2):c.547G>A (p.Ala183Thr)	CABP2 (A183T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 738775	NM_016366.3(CABP2):c.516C>T (p.Ile172=)	CABP2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 713351	NM_016366.3(CABP2):c.510C>T (p.Gly170=)	CABP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 420266	NM_016366.3(CABP2):c.490-24_490-1del	CABP2	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 1220448	NM_016366.3(CABP2):c.489+53G>A	CABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2018072	NM_016366.3(CABP2):c.392T>C (p.Val131Ala)	CABP2 (V137A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1274294	NM_016366.3(CABP2):c.380-212T>G	CABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248407	NM_016366.3(CABP2):c.380-331G>A	CABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304695	NM_016366.3(CABP2):c.346G>A (p.Glu116Lys)	CABP2 (E116K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499958	NM_016366.3(CABP2):c.345C>A (p.Thr115=)	CABP2	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1328858	NM_016366.3(CABP2):c.299G>T (p.Cys100Phe)	CABP2 (C100F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 506033	NM_016366.3(CABP2):c.281G>A (p.Arg94Gln)	CABP2 (R94Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 509126	NM_016366.3(CABP2):c.280C>G (p.Arg94Gly)	CABP2 (R94G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 594965	NM_016366.3(CABP2):c.227G>A (p.Arg76Gln)	CABP2 (R76Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315101	NM_016366.3(CABP2):c.218G>A (p.Arg73Gln)	CABP2 (R73Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1191039	NM_016366.3(CABP2):c.213+9G>A	CABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682299	NM_016366.3(CABP2):c.213+8C>T	CABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680427	NM_016366.3(CABP2):c.201C>T (p.Ala67=)	CABP2 (P72L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 501973	NM_016366.3(CABP2):c.201C>A (p.Ala67=)	CABP2 (P72Q)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 449907	NM_016366.3(CABP2):c.188G>A (p.Arg63Gln)	CABP2 (R63Q +1 more)	Single nucleotide variant (missense variant)	CABP2-related condition +3 more	GBenign/Likely benign
Select item 1254635	NM_016366.3(CABP2):c.143A>C (p.Tyr48Ser)	CABP2 (T53P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 93 +2 more	GUncertain significance
Select item 1199810	NM_016366.3(CABP2):c.124G>A (p.Ala42Thr)	CABP2 (A42T)	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1313829	NM_016366.3(CABP2):c.118G>A (p.Asp40Asn)	CABP2 (D40N)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2662632	NM_016366.3(CABP2):c.65C>A (p.Ser22Tyr)	CABP2 (P27T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311764	NM_016366.3(CABP2):c.59T>G (p.Leu20Arg)	CABP2 (L20R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675263	NM_016366.3(CABP2):c.46C>T (p.Pro16Ser)	CABP2 (P16S)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1291756	NM_016366.3(CABP2):c.42+113C>T	CABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1303918	NM_016366.3(CABP2):c.3G>A (p.Met1Ile)	CABP2 (M1I +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GUncertain significance
Select item 1203861	NM_016366.3(CABP2):c.-16G>T	CABP2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 513290	NM_016366.3(CABP2):c.-31G>A	CABP2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1291684	NC_000011.10:g.67523482G>A	CABP2	Single nucleotide variant	not provided	GBenign
Select item 1289073	NC_000011.10:g.67523586C>T	CABP2	Single nucleotide variant	not provided	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: 38