11081[geneid] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 58230	GRCh38/hg38 12q21.33(chr12:90197297-91239004)x3	CCER1, DCN +11 more	Copy number gain	See cases	GUncertain significance
Select item 149680	GRCh38/hg38 12q21.33-22(chr12:90996508-94872818)x1	LINC02397, LINC02404 +169 more	Copy number loss	See cases	GLikely pathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 2495087	NM_007035.4(KERA):c.1045G>C (p.Ala349Pro)	KERA (A349P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 56548	NM_007035.4(KERA):c.1026del (p.Cys343fs)	KERA (C343fs)	Deletion (frameshift variant)	Cornea plana 2	GConflicting classifications of pathogenicity
Select item 2378760	NM_007035.4(KERA):c.968G>A (p.Arg323His)	KERA (R323H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1896764	NM_007035.4(KERA):c.967C>T (p.Arg323Cys)	KERA (R323C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 781087	NM_007035.4(KERA):c.938G>A (p.Arg313Gln)	KERA (R313Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 6522	NM_007035.4(KERA):c.937C>T (p.Arg313Ter)	KERA (R313*)	Single nucleotide variant (nonsense)	Cornea plana 2	GPathogenic
Select item 2246207	NM_007035.4(KERA):c.907T>C (p.Cys303Arg)	KERA (C303R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1530150	NM_007035.4(KERA):c.887-8C>T	KERA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2912464	NM_007035.4(KERA):c.836G>A (p.Arg279Gln)	KERA (R279Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 56550	NM_007035.4(KERA):c.835C>T (p.Arg279Ter)	KERA (R279*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3113960	NM_007035.4(KERA):c.797A>G (p.Asp266Gly)	KERA (D266G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 6519	NM_007035.4(KERA):c.740A>G (p.Asn247Ser)	KERA (N247S)	Single nucleotide variant (missense variant)	Cornea plana 2	GPathogenic
Select item 2999315	NM_007035.4(KERA):c.739A>G (p.Asn247Asp)	KERA (N247D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643214	NM_007035.4(KERA):c.729A>G (p.Arg243=)	KERA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2557192	NM_007035.4(KERA):c.719C>T (p.Ala240Val)	KERA (A240V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2038764	NM_007035.4(KERA):c.719C>A (p.Ala240Asp)	KERA (A240D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891759	NM_007035.4(KERA):c.696T>G (p.Tyr232Ter)	KERA (Y232*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2643215	NM_007035.4(KERA):c.660A>G (p.Leu220=)	KERA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 6521	NM_007035.4(KERA):c.644C>A (p.Thr215Lys)	KERA (T215K)	Single nucleotide variant (missense variant)	Cornea plana 2	GPathogenic
Select item 1687461	NM_007035.4(KERA):c.623C>G (p.Pro208Arg)	KERA (P208R)	Single nucleotide variant (missense variant)	Cornea plana 2	GUncertain significance
Select item 2391818	NM_007035.4(KERA):c.621G>A (p.Met207Ile)	KERA (M207I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227124	NM_007035.4(KERA):c.617A>T (p.Asn206Ile)	KERA (N206I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2084520	NM_007035.4(KERA):c.615G>A (p.Arg205=)	KERA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3113959	NM_007035.4(KERA):c.584T>C (p.Met195Thr)	KERA (M195T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533808	NM_007035.4(KERA):c.554G>A (p.Arg185Lys)	KERA (R185K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2038191	NM_007035.4(KERA):c.549T>C (p.Phe183=)	KERA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 6520	NM_007035.4(KERA):c.520C>T (p.Gln174Ter)	KERA (Q174*)	Single nucleotide variant (nonsense)	Cornea plana 2	GPathogenic
Select item 2370740	NM_007035.4(KERA):c.424A>G (p.Arg142Gly)	KERA (R142G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535393	NM_007035.4(KERA):c.392A>G (p.Asn131Ser)	KERA (N131S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 56549	NM_007035.4(KERA):c.391A>G (p.Asn131Asp)	KERA (N131D)	Single nucleotide variant (missense variant)	Cornea plana 2	GLikely pathogenic
Select item 3234672	NM_007035.4(KERA):c.347_350dup (p.Ser118fs)	KERA (S118fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2628327	NM_007035.4(KERA):c.331G>A (p.Gly111Arg)	KERA (G111R)	Single nucleotide variant (missense variant)	Cornea plana 2	GUncertain significance
Select item 2998410	NM_007035.4(KERA):c.324C>G (p.Thr108=)	KERA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 225521	NM_007035.4(KERA):c.320T>G (p.Ile107Arg)	KERA (I107R)	Single nucleotide variant (missense variant)	Cornea plana 2	GPathogenic
Select item 3113958	NM_007035.4(KERA):c.256A>G (p.Ile86Val)	KERA (I86V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2126688	NM_007035.4(KERA):c.246G>T (p.Leu82=)	KERA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2628328	NM_007035.4(KERA):c.229T>C (p.Tyr77His)	KERA (Y77H)	Single nucleotide variant (missense variant)	Cornea plana 2	GUncertain significance
Select item 2735921	NM_007035.4(KERA):c.209C>T (p.Pro70Leu)	KERA (P70L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2039478	NM_007035.4(KERA):c.207T>C (p.Ile69=)	KERA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2560264	NM_007035.4(KERA):c.176A>C (p.Glu59Ala)	KERA (E59A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113956	NM_007035.4(KERA):c.131T>C (p.Met44Thr)	KERA (M44T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253373	NM_007035.4(KERA):c.130A>G (p.Met44Val)	KERA (M44V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2170959	NM_007035.4(KERA):c.128C>A (p.Pro43His)	KERA (P43H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3057860	NM_007035.4(KERA):c.120C>T (p.Phe40=)	KERA	Single nucleotide variant (synonymous variant)	KERA-related disorder	GLikely benign
Select item 1547721	NM_007035.4(KERA):c.75G>A (p.Gln25=)	KERA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1174695	NM_007035.4(KERA):c.69G>A (p.Val23=)	KERA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1940458	NM_007035.4(KERA):c.55_56del (p.Trp19fs)	KERA (W19fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2643216	NM_007035.4(KERA):c.-2T>C	KERA	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1527724	GRCh37/hg19 12q21.33-22(chr12:91073628-92829926)	BTG1, CCER1 +7 more	Copy number loss	not specified	GUncertain significance
Select item 980450	GRCh37/hg19 12q21.33(chr12:90629021-91543515)x3	CCER1, LUM +3 more	Copy number gain	not provided	GUncertain significance
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 563983	GRCh37/hg19 12q21.32-21.33(chr12:87654236-91893923)x1	CCER1, ATP2B1 +13 more	Copy number loss	not provided	GUncertain significance
Select item 442370	GRCh37/hg19 12q21.33(chr12:90881837-91582957)x1	CCER1, DCN +3 more	Copy number loss	See cases	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 253789	GRCh37/hg19 12q21.33(chr12:90910083-91560392)x3	EPYC, LUM +3 more	Copy number gain	See cases	GUncertain significance

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Items: 62