ClinVar for Gene (Select 51621) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3288811	NM_015995.4(KLF13):c.281C>T (p.Thr94Ile)	KLF13 (T94I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288810	NM_015995.4(KLF13):c.503A>G (p.Lys168Arg)	KLF13 (K168R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288809	NM_015995.4(KLF13):c.305C>T (p.Ala102Val)	KLF13 (A102V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288808	NM_015995.4(KLF13):c.359C>T (p.Pro120Leu)	KLF13 (P120L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242303	GRCh37/hg19 15q13.2-13.3(chr15:30935396-32444881)x3	CHRNA7, FAN1 +5 more	Copy number gain	not provided	GPathogenic
Select item 3115285	NM_015995.4(KLF13):c.89G>A (p.Gly30Glu)	KLF13 (G30E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115284	NM_015995.4(KLF13):c.799G>A (p.Gly267Ser)	KLF13 (G267S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115283	NM_015995.4(KLF13):c.748G>A (p.Ala250Thr)	KLF13 (A250T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115281	NM_015995.4(KLF13):c.413G>A (p.Gly138Glu)	KLF13 (G138E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115280	NM_015995.4(KLF13):c.337G>C (p.Ala113Pro)	KLF13 (A113P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115279	NM_015995.4(KLF13):c.283C>T (p.Pro95Ser)	KLF13 (P95S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115278	NM_015995.4(KLF13):c.239C>T (p.Pro80Leu)	KLF13 (P80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115277	NM_015995.4(KLF13):c.196C>T (p.Arg66Trp)	KLF13 (R66W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063391	GRCh37/hg19 15q11.2-13.3(chr15:23748021-32444261)x1	APBA2, ARHGAP11B +37 more	Copy number loss	not specified	GPathogenic
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063358	GRCh37/hg19 15q13.2-13.3(chr15:30913573-32914239)x1	ARHGAP11A, ARHGAP11B +9 more	Copy number loss	not specified	GPathogenic
Select item 3063348	GRCh37/hg19 15q11.2-13.3(chr15:22770421-32446830)x3	APBA2, ARHGAP11B +42 more	Copy number gain	not specified	GPathogenic
Select item 3062003	GRCh38/hg38 15q11.2-13.3(chr15:22612582-32116118)	APBA2, ARHGAP11B +227 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3024590	GRCh37/hg19 15q13.2-13.3(chr15:30896376-32465219)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	not provided	GPathogenic
Select item 3024589	GRCh37/hg19 15q13.2-13.3(chr15:30844281-32404100)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	not provided	GPathogenic
Select item 2690935	GRCh37/hg19 15q13.2-13.3(chr15:30730511-32914199)x3	ARHGAP11A, ARHGAP11B +11 more	Copy number gain	See cases	GUncertain significance
Select item 2685505	GRCh37/hg19 15q13.3(chr15:31223642-32446830)x1	CHRNA7, FAN1 +5 more	Copy number loss	not provided	GPathogenic
Select item 2684752	GRCh37/hg19 15q13.2-13.3(chr15:30913574-32444196)x3	ARHGAP11B, CHRNA7 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684749	GRCh37/hg19 15q11.2-13.3(chr15:22770422-32915593)x3	APBA2, ARHGAP11A +45 more	Copy number gain	not provided	GPathogenic
Select item 2684748	GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3	ACTC1, APBA2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2671594	Single allele	APBA2, ARHGAP11B +42 more	Duplication	not provided	GPathogenic
Select item 2627559	GRCh37/hg19 15q13.2-13.3(chr15:30653877-32914199)x3	MIR211, MTMR10 +13 more	Copy number gain	See cases	GUncertain significance
Select item 2582942	GRCh37/hg19 15q13.2-13.3(chr15:30850147-32404100)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	not provided	GPathogenic
Select item 2580334	GRCh37/hg19 15q13.2-13.3(chr15:30854238-32892694)x1	ARHGAP11B, CHRNA7 +9 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2580323	GRCh37/hg19 15q13.2-13.3(chr15:30897996-32442006)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2580311	GRCh37/hg19 15q13.2-13.3(chr15:30850097-32693726)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	See cases	GPathogenic
Select item 2580303	GRCh37/hg19 15q13.2-13.3(chr15:30918974-32442006)x1	MIR211, ARHGAP11B +6 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2580300	GRCh37/hg19 15q13.2-13.3(chr15:30805785-32686484)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2574687	GRCh37/hg19 15q13.2-13.3(chr15:31073735-32446830)	CHRNA7, FAN1 +5 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2547667	NM_015995.4(KLF13):c.289C>G (p.Arg97Gly)	KLF13 (R97G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534218	NM_015995.4(KLF13):c.699G>C (p.Glu233Asp)	KLF13 (E233D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521358	NM_015995.4(KLF13):c.404G>A (p.Arg135Gln)	KLF13 (R135Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499650	GRCh38/hg38 15q13.2-13.3(chr15:30866083-32146743)	CHRNA7, FAN1 +21 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2446467	GRCh37/hg19 15q13.2-13.3(chr15:30921917-32514980)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2425861	NC_000015.9:g.(?_31196867)_(34112028_?)dup	ARHGAP11A, CHRNA7 +11 more	Duplication	Familial colorectal cancer	GUncertain significance
Select item 2423388	NC_000015.9:g.(?_30906349)_(32446187_?)del	ARHGAP11B, CHRNA7 +7 more	Deletion	not provided	GPathogenic
Select item 2409347	NM_015995.4(KLF13):c.778C>G (p.Arg260Gly)	KLF13 (R260G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391738	NM_015995.4(KLF13):c.364T>G (p.Trp122Gly)	KLF13 (W122G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364962	NM_015995.4(KLF13):c.312G>C (p.Glu104Asp)	KLF13 (E104D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362711	NM_015995.4(KLF13):c.332A>C (p.Glu111Ala)	KLF13 (E111A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361503	NM_015995.4(KLF13):c.333A>C (p.Glu111Asp)	KLF13 (E111D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359528	NM_015995.4(KLF13):c.326G>C (p.Gly109Ala)	KLF13 (G109A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359178	NM_015995.4(KLF13):c.328G>C (p.Ala110Pro)	KLF13 (A110P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359177	NM_015995.4(KLF13):c.319T>C (p.Ser107Pro)	KLF13 (S107P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359099	NM_015995.4(KLF13):c.325G>C (p.Gly109Arg)	KLF13 (G109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359098	NM_015995.4(KLF13):c.316A>C (p.Thr106Pro)	KLF13 (T106P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358552	NM_015995.4(KLF13):c.116C>T (p.Ala39Val)	KLF13 (A39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324146	NM_015995.4(KLF13):c.103C>G (p.Pro35Ala)	KLF13 (P35A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301027	NM_015995.4(KLF13):c.95A>G (p.Glu32Gly)	KLF13 (E32G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286068	NM_015995.4(KLF13):c.8C>T (p.Ala3Val)	KLF13 (A3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248276	NM_015995.4(KLF13):c.457C>T (p.Arg153Trp)	KLF13 (R153W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231483	NM_015995.4(KLF13):c.133A>C (p.Thr45Pro)	KLF13 (T45P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229678	NM_015995.4(KLF13):c.127A>C (p.Thr43Pro)	KLF13 (T43P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809096	GRCh37/hg19 15q13.2-13.3(chr15:30913574-32003451)x1	OTUD7A, TRPM1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1808704	GRCh37/hg19 15q13.1-13.3(chr15:28540415-32446830)x1	APBA2, ARHGAP11B +15 more	Copy number loss	not provided	GPathogenic
Select item 1808682	GRCh37/hg19 15q13.2-13.3(chr15:30913574-32446830)x1	ARHGAP11B, CHRNA7 +6 more	Copy number loss	not provided	GPathogenic
Select item 1808319	GRCh37/hg19 15q13.2-13.3(chr15:31073669-32915593)x3	ARHGAP11A, CHRNA7 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1807850	GRCh37/hg19 15q13.2-13.3(chr15:30370018-32446830)x1	ARHGAP11B, CHRFAM7A +9 more	Copy number loss	not provided	GPathogenic
Select item 1711871	GRCh37/hg19 15q13.2-13.3(chr15:31098690-32444044)x1	CHRNA7, FAN1 +5 more	Copy number loss	See cases	GPathogenic
Select item 1711395	GRCh37/hg19 15q13.2-13.3(chr15:30898046-32691186)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	not provided	GPathogenic
Select item 1711394	GRCh37/hg19 15q13.2-13.3(chr15:30696635-32783786)x3	ARHGAP11B, CHRNA7 +8 more	Copy number gain	not provided	GPathogenic
Select item 1707424	GRCh37/hg19 15q11.2-13.3(chr15:30370019-30374368)	APBA2, ARHGAP11B +42 more	Copy number gain	See cases	GPathogenic
Select item 1705943	GRCh37/hg19 15q13.2-13.3(chr15:31073735-32444044)x1	CHRNA7, FAN1 +5 more	Copy number loss	FETAL DEMISE	GPathogenic
Select item 1703689	Single allele	APBA2, ARHGAP11B +42 more	Complex	Distal tetrasomy 15q	GPathogenic
Select item 1703668	GRCh37/hg19 15q13.2-13.3(chr15:31098690-32914240)	ARHGAP11A, CHRNA7 +8 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 1703658	GRCh37/hg19 15q13.2-13.3(chr15:31073668-32446830)	CHRNA7, FAN1 +5 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 1703648	GRCh37/hg19 15q13.2-13.3(chr15:31088442-32446830)	CHRNA7, FAN1 +5 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 1703232	Single allele	LOC129390680, LOC130056726 +25 more	Deletion	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 1701266	GRCh37/hg19 15q13.2-13.3(chr15:30899058-32446187)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	not provided	GPathogenic
Select item 1684563	GRCh37/hg19 15q13.1-13.3(chr15:28780392-32784132)x1	APBA2, ARHGAP11B +15 more	Copy number loss	See cases	GPathogenic
Select item 1684562	GRCh37/hg19 15q13.2-13.3(chr15:30783603-32914393)x1	ARHGAP11A, ARHGAP11B +10 more	Copy number loss	See cases	GPathogenic
Select item 1684560	GRCh37/hg19 15q13.2-13.3(chr15:30819465-32509926)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	See cases	GPathogenic
Select item 1410613	NC_000015.9:g.(?_31196867)_(32404120_?)dup	CHRNA7, FAN1 +5 more	Duplication	not provided	GUncertain significance
Select item 1342586	NM_001302461.2(KLF13):c.728C>T (p.Ala243Val)	KLF13 (A243V)	Single nucleotide variant (missense variant)	Congenital heart disease	GUncertain significance
Select item 1340668	GRCh37/hg19 15q13.2-13.3(chr15:31073669-32436521)x3	CHRNA7, FAN1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1340490	GRCh37/hg19 15q13.2-13.3(chr15:30386398-32444113)x3	MTMR10, OTUD7A +8 more	Copy number gain	not provided	GUncertain significance
Select item 1340363	GRCh37/hg19 15q13.2-13.3(chr15:30913574-32019919)x1	ARHGAP11B, FAN1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1330163	GRCh37/hg19 15q13.2-13.3(chr15:30897996-32404614)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 1328465	GRCh37/hg19 15q13.2-13.3(chr15:30935361-32444840)x3	CHRNA7, FAN1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1180504	GRCh37/hg19 15q13.2-13.3(chr15:30935243-32445105)x1	CHRNA7, FAN1 +5 more	Copy number loss	not provided	GPathogenic
Select item 1072397	NC_000015.9:g.(?_31196867)_(32404120_?)del	CHRNA7, FAN1 +5 more	Deletion	not provided	GPathogenic
Select item 997079	GRCh37/hg19 15q13.2-13.3(chr15:30943903-32510863)	CHRNA7, FAN1 +5 more	Copy number loss	Global developmental delay	GPathogenic
Select item 997069	GRCh37/hg19 15q13.2-13.3(chr15:30652489-32438943)	ARHGAP11B, CHRFAM7A +8 more	Copy number gain	Intellectual disability	GPathogenic
Select item 997068	GRCh37/hg19 15q13.2-13.3(chr15:30943903-32510863)	CHRNA7, FAN1 +5 more	Copy number gain	Facial asymmetry	GPathogenic
Select item 979417	GRCh37/hg19 15q13.2-13.3(chr15:30386398-32915089)x3	CHRFAM7A, ARHGAP11A +11 more	Copy number gain	not provided	GUncertain significance
Select item 979416	GRCh37/hg19 15q13.2-13.3(chr15:30386398-32051707)x3	ARHGAP11B, CHRFAM7A +7 more	Copy number gain	not provided	GUncertain significance
Select item 979415	GRCh37/hg19 15q13.2-13.3(chr15:30374368-32446830)x1	ARHGAP11B, CHRFAM7A +9 more	Copy number loss	not provided	GPathogenic
Select item 979414	GRCh37/hg19 15q13.1-14(chr15:28709714-34506805)x3	MTMR10, APBA2 +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 979413	GRCh37/hg19 15q13.1-13.3(chr15:28915863-32446830)x1	FAN1, MTMR10 +14 more	Copy number loss	not provided	GPathogenic
Select item 929340	GRCh37/hg19 15q13.1-13.3(chr15:28962131-32620127)x1	APBA2, ARHGAP11B +14 more	Copy number loss	See cases	GPathogenic
Select item 816500	GRCh37/hg19 15q13.2-13.3(chr15:30936285-32514341)x3	CHRNA7, FAN1 +5 more	Copy number gain	See cases	GLikely pathogenic
Select item 815696	GRCh37/hg19 15q13.2-13.3(chr15:31108661-32446830)x1	CHRNA7, FAN1 +5 more	Copy number loss	not provided	GPathogenic
Select item 815694	GRCh37/hg19 15q13.1-13.3(chr15:29268247-32446830)x1	APBA2, ARHGAP11B +13 more	Copy number loss	not provided	GPathogenic
Select item 815693	GRCh37/hg19 15q13.1-13.3(chr15:28946433-32446830)x1	APBA2, FAN1 +14 more	Copy number loss	not provided	GPathogenic

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