ClinVar for Gene (Select 57010) - 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 3017781	NM_145200.5(CABP4):c.366+11A>G	CABP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010057	NM_145200.5(CABP4):c.397+11C>T	CABP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992494	NM_145200.5(CABP4):c.687G>A (p.Ala229=)	CABP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2965111	NM_145200.5(CABP4):c.454C>T (p.Arg152Trp)	CABP4 (R152W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907602	NM_145200.5(CABP4):c.240G>C (p.Pro80=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2824081	NM_145200.5(CABP4):c.542-12C>A	CABP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819314	NM_145200.5(CABP4):c.541+17G>A	CABP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800898	NM_145200.5(CABP4):c.652-17C>A	CABP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798294	NM_145200.5(CABP4):c.234G>A (p.Glu78=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2789641	NM_145200.5(CABP4):c.738T>C (p.Pro246=)	CABP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2757065	NM_145200.5(CABP4):c.105C>T (p.Pro35=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2704369	NM_145200.5(CABP4):c.789A>G (p.Val263=)	CABP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2550789	NM_145200.5(CABP4):c.775G>A (p.Gly259Arg)	CABP4 (G154R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536457	NM_145200.5(CABP4):c.392T>C (p.Leu131Pro)	CABP4 (L131P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533206	NM_206997.1(GPR152):c.266T>C (p.Leu89Pro)	CABP4, GPR152 (L89P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519515	NM_206997.1(GPR152):c.180T>A (p.His60Gln)	CABP4, GPR152 (H60Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2480630	NM_206997.1(GPR152):c.161C>T (p.Ala54Val)	CABP4, GPR152 (A54V)	Single nucleotide variant (missense variant +1 more)	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 2407519	NM_206997.1(GPR152):c.57G>C (p.Glu19Asp)	CABP4, GPR152 (E19D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357316	NM_206997.1(GPR152):c.193C>T (p.Arg65Cys)	CABP4, GPR152 (R65C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338164	NM_145200.5(CABP4):c.615G>T (p.Met205Ile)	CABP4 (M205I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299322	NM_145200.5(CABP4):c.220C>A (p.Pro74Thr)	CABP4 (P74T)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2295842	NM_145200.5(CABP4):c.439G>C (p.Gly147Arg)	CABP4 (G147R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243776	NM_145200.5(CABP4):c.737C>G (p.Pro246Arg)	CABP4 (P141R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204626	NM_145200.5(CABP4):c.284A>G (p.Gln95Arg)	CABP4 (Q95R)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2199128	NM_145200.5(CABP4):c.798C>T (p.Asp266=)	CABP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2196499	NM_145200.5(CABP4):c.652-12C>T	CABP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2194414	NM_145200.5(CABP4):c.477G>A (p.Arg159=)	CABP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2193692	NM_145200.5(CABP4):c.541+8A>T	CABP4	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2180986	NM_145200.5(CABP4):c.778G>T (p.Asp260Tyr)	CABP4 (D155Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2179142	NM_145200.5(CABP4):c.495C>T (p.Pro165=)	CABP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2166384	NM_145200.5(CABP4):c.262C>T (p.Pro88Ser)	CABP4 (P88S)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2162407	NM_145200.5(CABP4):c.604A>G (p.Thr202Ala)	CABP4 (T202A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2152116	NM_145200.5(CABP4):c.145C>T (p.Arg49Ter)	CABP4 (R49*)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GPathogenic
Select item 2146140	NM_145200.5(CABP4):c.319G>A (p.Ala107Thr)	CABP4 (A107T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2141894	NM_145200.5(CABP4):c.786C>T (p.Thr262=)	CABP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2130470	NM_145200.5(CABP4):c.366+10G>C	CABP4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2108901	NM_145200.5(CABP4):c.748G>A (p.Glu250Lys)	CABP4 (E145K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2105254	NM_145200.5(CABP4):c.36A>G (p.Pro12=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2102077	NM_145200.5(CABP4):c.394G>T (p.Asp132Tyr)	CABP4 (D27Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098095	NM_145200.5(CABP4):c.366+7T>C	CABP4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2087313	NM_145200.5(CABP4):c.86A>G (p.Lys29Arg)	CABP4 (K29R)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2086241	NM_145200.5(CABP4):c.73G>T (p.Val25Phe)	CABP4 (V25F)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2078489	NM_145200.5(CABP4):c.609G>A (p.Ala203=)	CABP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2077988	NM_145200.5(CABP4):c.619G>C (p.Gly207Arg)	CABP4 (G207R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2074368	NM_145200.5(CABP4):c.717C>G (p.Leu239=)	CABP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2065496	NM_145200.5(CABP4):c.544G>A (p.Gly182Ser)	CABP4 (G182S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2058763	NM_145200.5(CABP4):c.595A>G (p.Arg199Gly)	CABP4 (R199G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2050213	NM_145200.5(CABP4):c.800-1G>A	CABP4	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2048789	NM_145200.5(CABP4):c.384C>T (p.Pro128=)	CABP4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2048028	NM_145200.5(CABP4):c.421T>A (p.Phe141Ile)	CABP4 (F36I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038276	NM_145200.5(CABP4):c.233_234del (p.Glu78fs)	CABP4 (E78fs)	Microsatellite (5 prime UTR variant +3 more)	not provided	GPathogenic
Select item 2038233	NM_145200.5(CABP4):c.21G>C (p.Arg7Ser)	CABP4 (R7S)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2036528	NM_145200.5(CABP4):c.584dup (p.Leu198fs)	CABP4 (L93fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2022699	NM_145200.5(CABP4):c.276T>G (p.Ser92=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2018909	NM_145200.5(CABP4):c.708G>A (p.Pro236=)	CABP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2010290	NM_145200.5(CABP4):c.87G>A (p.Lys29=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2009714	NM_145200.5(CABP4):c.73G>A (p.Val25Ile)	CABP4 (V25I)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2006829	NM_145200.5(CABP4):c.339dup (p.Pro114fs)	CABP4 (P114fs)	Duplication (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2004997	NM_145200.5(CABP4):c.253C>T (p.Pro85Ser)	CABP4 (P85S)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1998207	NM_145200.5(CABP4):c.59A>G (p.Lys20Arg)	CABP4 (K20R)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1987092	NM_145200.5(CABP4):c.799G>A (p.Glu267Lys)	CABP4 (E162K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1981670	NM_145200.5(CABP4):c.154C>G (p.Arg52Gly)	CABP4 (R52G)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1959488	NM_145200.5(CABP4):c.398-9C>T	CABP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1955972	NM_145200.5(CABP4):c.799+20A>G	CABP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933120	NM_145200.5(CABP4):c.139G>C (p.Gly47Arg)	CABP4 (G47R)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1922134	NM_145200.5(CABP4):c.649G>C (p.Glu217Gln)	CABP4 (E112Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1921242	NM_145200.5(CABP4):c.400C>T (p.Leu134Phe)	CABP4 (L134F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914504	NM_145200.5(CABP4):c.129G>A (p.Lys43=)	CABP4	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GLikely benign
Select item 1898306	NM_145200.5(CABP4):c.800-2A>G	CABP4	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1716030	NM_145200.5(CABP4):c.493C>G (p.Pro165Ala)	CABP4 (P165A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1714693	NM_145200.5(CABP4):c.668A>G (p.Asp223Gly)	CABP4 (D118G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
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 1675463	NM_145200.5(CABP4):c.373G>A (p.Glu125Lys)	CABP4 (E125K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1668920	NM_145200.5(CABP4):c.681G>T (p.Thr227=)	CABP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1665023	NM_145200.5(CABP4):c.546C>T (p.Gly182=)	CABP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1647615	NM_145200.5(CABP4):c.702G>A (p.Ala234=)	CABP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1639315	NM_145200.5(CABP4):c.397+12T>C	CABP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636318	NM_145200.5(CABP4):c.207C>T (p.Ser69=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1627754	NM_145200.5(CABP4):c.651+10G>A	CABP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1606636	NM_145200.5(CABP4):c.541+20C>T	CABP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1604054	NM_145200.5(CABP4):c.201G>A (p.Pro67=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1594835	NM_145200.5(CABP4):c.367-14C>A	CABP4 (T13N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1585162	NM_145200.5(CABP4):c.243G>A (p.Ala81=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1580688	NM_145200.5(CABP4):c.585C>A (p.Gly195=)	CABP4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1574390	NM_145200.5(CABP4):c.708G>C (p.Pro236=)	CABP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1574210	NM_145200.5(CABP4):c.264T>C (p.Pro88=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1563022	NM_145200.5(CABP4):c.24G>A (p.Gly8=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1563007	NM_145200.5(CABP4):c.726G>A (p.Pro242=)	CABP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1561690	NM_145200.5(CABP4):c.414C>T (p.Phe138=)	CABP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1561026	NM_145200.5(CABP4):c.68C>T (p.Ala23Val)	CABP4 (A23V)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1553935	NM_145200.5(CABP4):c.216C>T (p.Asn72=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1544363	NM_145200.5(CABP4):c.367-16G>A	CABP4 (W12*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 1543536	NM_145200.5(CABP4):c.399G>A (p.Glu133=)	CABP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1528779	NM_145200.5(CABP4):c.192C>G (p.Pro64=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1522473	NM_145200.5(CABP4):c.65C>T (p.Pro22Leu)	CABP4 (P22L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1519143	NM_145200.5(CABP4):c.47T>C (p.Ile16Thr)	CABP4 (I16T)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity

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