ClinVar for Gene (Select 51475) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2995489	NM_016366.3(CABP2):c.447A>G (p.Ala149=)	CABP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966562	NM_016366.3(CABP2):c.43-13G>A	CABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910594	NM_016366.3(CABP2):c.274C>A (p.Arg92=)	CABP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895007	NM_016366.3(CABP2):c.213+1G>A	CABP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely pathogenic
Select item 2894048	NM_016366.3(CABP2):c.586G>A (p.Glu196Lys)	CABP2 (E196K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2728647	NM_016366.3(CABP2):c.444G>A (p.Thr148=)	CABP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713608	NM_016366.3(CABP2):c.637+7C>G	CABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2671675	NM_016366.3(CABP2):c.127C>T (p.Pro43Ser)	CABP2 (P43S)	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 93	GUncertain significance
Select item 2664943	NM_016366.3(CABP2):c.60C>A (p.Leu20=)	CABP2 (S25*)	Single nucleotide variant (nonsense +1 more)	CABP2-related condition +1 more	GConflicting classifications of pathogenicity
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 2597046	NM_016366.3(CABP2):c.563G>A (p.Arg188His)	CABP2 (R188H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484521	NM_016366.3(CABP2):c.217C>T (p.Arg73Trp)	CABP2 (R73W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2410059	NM_016366.3(CABP2):c.385G>A (p.Gly129Arg)	CABP2 (G129R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297371	NM_016366.3(CABP2):c.302G>A (p.Arg101Gln)	CABP2 (R107Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228668	NM_016366.3(CABP2):c.238A>G (p.Ile80Val)	CABP2 (I80V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2194221	NM_016366.3(CABP2):c.520G>A (p.Val174Met)	CABP2 (V174M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2191656	NM_016366.3(CABP2):c.654G>A (p.Met218Ile)	CABP2 (M218I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2183630	NM_016366.3(CABP2):c.637+4C>T	CABP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2173977	NM_016366.3(CABP2):c.327C>T (p.Thr109=)	CABP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2165508	NM_016366.3(CABP2):c.76G>A (p.Gly26Ser)	CABP2 (G26S)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2147728	NM_016366.3(CABP2):c.647G>A (p.Arg216Gln)	CABP2 (R222Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2057154	NM_016366.3(CABP2):c.42+1G>C	CABP2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2044240	NM_016366.3(CABP2):c.490-9C>T	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 2006547	NM_016366.3(CABP2):c.493G>T (p.Asp165Tyr)	CABP2 (D171Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991382	NM_016366.3(CABP2):c.379+12G>A	CABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1984374	NM_016366.3(CABP2):c.244+8G>A	CABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1980696	NM_016366.3(CABP2):c.244+7G>A	CABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971770	NM_016366.3(CABP2):c.637+6C>T	CABP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1969125	NM_016366.3(CABP2):c.646C>T (p.Arg216Ter)	CABP2 (R216* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1954835	NM_016366.3(CABP2):c.43-17G>A	CABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1949229	NM_016366.3(CABP2):c.214-15C>T	CABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906930	NM_016366.3(CABP2):c.400G>A (p.Glu134Lys)	CABP2 (E134K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900027	NM_016366.3(CABP2):c.19C>T (p.Arg7Trp)	CABP2 (R7W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1897681	NM_016366.3(CABP2):c.380-16T>C	CABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1698683	NM_016366.3(CABP2):c.490-8C>A	CABP2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 93	GLikely pathogenic
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 1667462	NM_016366.3(CABP2):c.60C>T (p.Leu20=)	CABP2 (S25L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1652896	NM_016366.3(CABP2):c.285C>T (p.Asp95=)	CABP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1652662	NM_016366.3(CABP2):c.379+20C>A	CABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635425	NM_016366.3(CABP2):c.489+12G>A	CABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632581	NM_016366.3(CABP2):c.637+11C>T	CABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1614326	NM_016366.3(CABP2):c.126G>A (p.Ala42=)	CABP2 (R47H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1514877	NM_016366.3(CABP2):c.197T>C (p.Ile66Thr)	CABP2 (I66T)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1506864	NM_016366.3(CABP2):c.323G>A (p.Arg108Gln)	CABP2 (R108Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1504028	NM_016366.3(CABP2):c.224T>C (p.Leu75Pro)	CABP2 (L81P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1485856	NM_016366.3(CABP2):c.514A>T (p.Ile172Phe)	CABP2 (I172F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1442960	NM_016366.3(CABP2):c.619G>T (p.Gly207Cys)	CABP2 (G207C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1405497	NM_016366.3(CABP2):c.525C>G (p.Gly175=)	CABP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1377874	NM_016366.3(CABP2):c.41A>G (p.Lys14Arg)	CABP2 (K14R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1368650	NM_016366.3(CABP2):c.488A>C (p.Glu163Ala)	CABP2 (E163A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356975	NM_016366.3(CABP2):c.13_14delinsTT (p.Ala5Phe)	CABP2 (A5F +1 more)	Indel (missense variant)	not provided	GUncertain significance
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 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 1324001	NM_016366.3(CABP2):c.482del (p.Phe161fs)	CABP2 (F161fs +1 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 93	GLikely pathogenic
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 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 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 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 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 1291756	NM_016366.3(CABP2):c.42+113C>T	CABP2	Single nucleotide variant (intron variant)	not provided	GBenign
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 1274294	NM_016366.3(CABP2):c.380-212T>G	CABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272043	NM_016366.3(CABP2):c.638-33A>G	CABP2	Single nucleotide variant (intron variant)	not provided	GBenign
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 1248407	NM_016366.3(CABP2):c.380-331G>A	CABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220448	NM_016366.3(CABP2):c.489+53G>A	CABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1191039	NM_016366.3(CABP2):c.213+9G>A	CABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1120066	NM_016366.3(CABP2):c.659G>A (p.Arg220Gln)	CABP2 (R220Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1065012	NM_016366.3(CABP2):c.470T>C (p.Leu157Pro)	CABP2 (L157P +1 more)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 917515	NM_016366.3(CABP2):c.232G>A (p.Glu78Lys)	CABP2 (E84K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 93	GPathogenic
Select item 817309	NM_016366.2(CABP2):c.638_639delAG	CABP2	Microsatellite	not provided	GLikely pathogenic
Select item 815437	GRCh37/hg19 11q13.2(chr11:66820585-67979510)x3	ALDH3B2, ACY3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 795132	NM_016366.3(CABP2):c.459T>C (p.Gly153=)	CABP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 793600	NM_016366.3(CABP2):c.456C>T (p.Ile152=)	CABP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 687044	GRCh37/hg19 11q13.2(chr11:67081259-67471729)x3	ACY3, AIP +21 more	Copy number gain	not provided	GUncertain significance
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 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 667073	NM_016366.3(CABP2):c.60C>G (p.Leu20=)	CABP2 (S25W)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
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 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 563826	GRCh37/hg19 11q13.2(chr11:67161003-67349899)x1	TBC1D10C, GPR152 +12 more	Copy number loss	not provided	GUncertain significance
Select item 517659	NM_016366.3(CABP2):c.32G>A (p.Arg11Gln)	CABP2 (R11Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 517568	NM_016366.3(CABP2):c.379+11C>T	CABP2	Single nucleotide variant (intron variant)	not specified +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 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 506194	NM_016366.3(CABP2):c.638-10G>A	CABP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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

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