25959[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 60235	GRCh38/hg38 19p13.2(chr19:11138895-11549951)x3	ANGPTL8, CCDC159 +52 more	Copy number gain	See cases	GUncertain significance
Select item 1245036	NM_001136191.3(KANK2):c.*160G>A	KANK2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1295464	NM_001136191.3(KANK2):c.*2C>T	KANK2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1411488	NM_001136191.3(KANK2):c.2554T>C (p.Ter852Gln)	KANK2	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1394568	NM_001136191.3(KANK2):c.2543C>T (p.Ser848Leu)	KANK2 (S848L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1554484	NM_001136191.3(KANK2):c.2512A>G (p.Met838Val)	KANK2 (M838V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3043500	NM_001136191.3(KANK2):c.2503-9_2503-8del	KANK2	Microsatellite (intron variant)	KANK2-related disorder	GLikely benign
Select item 1273505	NM_001136191.3(KANK2):c.2503-122GGGGCCA[3]	KANK2	Microsatellite (intron variant)	not provided	GBenign
Select item 1992106	NM_001136191.3(KANK2):c.2502+19G>A	KANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908623	NM_001136191.3(KANK2):c.2502+18C>T	KANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317914	NM_001136191.3(KANK2):c.2502+15G>A	KANK2	Single nucleotide variant (intron variant)	Wooly hair-palmoplantar keratoderma syndrome +2 more	GBenign/Likely benign
Select item 1903006	NM_001136191.3(KANK2):c.2502+14C>T	KANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3112608	NM_001136191.3(KANK2):c.2483G>T (p.Arg828Leu)	KANK2 (R836L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2179294	NM_001136191.3(KANK2):c.2483G>A (p.Arg828His)	KANK2 (R828H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2515771	NM_001136191.3(KANK2):c.2482C>T (p.Arg828Cys)	KANK2 (R828C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2196666	NM_001136191.3(KANK2):c.2465C>T (p.Ala822Val)	KANK2 (A822V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175789	NM_001136191.3(KANK2):c.2413-7T>G	KANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990486	NM_001136191.3(KANK2):c.2413-13G>A	KANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316937	NM_001136191.3(KANK2):c.2412+25C>T	KANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020695	NM_001136191.3(KANK2):c.2412+18T>A	KANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 744767	NM_001136191.3(KANK2):c.2412+7C>G	KANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2707208	NM_001136191.3(KANK2):c.2412C>T (p.Arg804=)	KANK2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3531696	NM_001136191.3(KANK2):c.2410C>T (p.Arg804Cys)	KANK2 (R812C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2747295	NM_001136191.3(KANK2):c.2407G>A (p.Asp803Asn)	KANK2 (D811N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834338	NM_001136191.3(KANK2):c.2382G>A (p.Val794=)	KANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2367381	NM_001136191.3(KANK2):c.2380G>A (p.Val794Met)	KANK2 (V802M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2160589	NM_001136191.3(KANK2):c.2379C>T (p.Ala793=)	KANK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1573153	NM_001136191.3(KANK2):c.2364G>A (p.Ala788=)	KANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1909837	NM_001136191.3(KANK2):c.2362G>A (p.Ala788Thr)	KANK2 (A788T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3112607	NM_001136191.3(KANK2):c.2335G>A (p.Ala779Thr)	KANK2 (A787T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2901169	NM_001136191.3(KANK2):c.2313C>T (p.Asp771=)	KANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3112606	NM_001136191.3(KANK2):c.2305G>T (p.Asp769Tyr)	KANK2 (D769Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040242	NM_001136191.3(KANK2):c.2298C>T (p.Asn766=)	KANK2	Single nucleotide variant (synonymous variant)	KANK2-related disorder	GLikely benign
Select item 3583402	NM_001136191.3(KANK2):c.2282G>A (p.Cys761Tyr)	KANK2 (C761Y +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome 16 +1 more	GUncertain significance
Select item 2711433	NM_001136191.3(KANK2):c.2269G>T (p.Ala757Ser)	KANK2 (A757S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2107106	NM_001136191.3(KANK2):c.2265C>G (p.Val755=)	KANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1627096	NM_001136191.3(KANK2):c.2252G>A (p.Arg751Gln)	KANK2 (R751Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1921070	NM_001136191.3(KANK2):c.2251C>A (p.Arg751=)	KANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2167319	NM_001136191.3(KANK2):c.2248G>A (p.Gly750Arg)	KANK2 (G750R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 713835	NM_001136191.3(KANK2):c.2247C>T (p.His749=)	KANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1228366	NM_001136191.3(KANK2):c.2211+141C>T	KANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3023336	NM_001136191.3(KANK2):c.2211+14G>A	KANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2185631	NM_001136191.3(KANK2):c.2187C>T (p.Gly729=)	KANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1935068	NM_001136191.3(KANK2):c.2184T>C (p.Leu728=)	KANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1463931	NM_001136191.3(KANK2):c.2180G>A (p.Arg727Gln)	KANK2 (R735Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192461	NM_001136191.3(KANK2):c.2179C>T (p.Arg727Trp)	KANK2 (R735W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3112605	NM_001136191.3(KANK2):c.2176T>C (p.Phe726Leu)	KANK2 (F734L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3531688	NM_001136191.3(KANK2):c.2158G>A (p.Glu720Lys)	KANK2 (E720K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2150260	NM_001136191.3(KANK2):c.2152G>A (p.Asp718Asn)	KANK2 (D726N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711659	NM_001136191.3(KANK2):c.2151C>T (p.Asp717=)	KANK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3287317	NM_001136191.3(KANK2):c.2150A>G (p.Asp717Gly)	KANK2 (D717G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300587	NM_001136191.3(KANK2):c.2132C>T (p.Ala711Val)	KANK2 (A719V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2719459	NM_001136191.3(KANK2):c.2124C>T (p.Thr708=)	KANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986327	NM_001136191.3(KANK2):c.2110C>T (p.Pro704Ser)	KANK2 (P704S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059326	NM_001136191.3(KANK2):c.2095C>T (p.Arg699Cys)	KANK2 (R699C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2198558	NM_001136191.3(KANK2):c.2070T>C (p.Gly690=)	KANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956562	NM_001136191.3(KANK2):c.2069-15C>T	KANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234099	NM_001136191.3(KANK2):c.2069-70G>A	KANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295441	NM_001136191.3(KANK2):c.2069-229A>G	KANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289407	NM_001136191.3(KANK2):c.2068+263C>T	KANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264222	NM_001136191.3(KANK2):c.2068+258A>T	KANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261526	NM_001136191.3(KANK2):c.2068+226C>T	KANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260434	NM_001136191.3(KANK2):c.2068+86C>T	KANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1929699	NM_001136191.3(KANK2):c.2068+20C>T	KANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2413225	NM_001136191.3(KANK2):c.2068G>A (p.Gly690Ser)	KANK2 (G690S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888267	NM_001136191.3(KANK2):c.2067C>T (p.Ser689=)	KANK2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2068789	NM_001136191.3(KANK2):c.2058G>A (p.Leu686=)	KANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2724252	NM_001136191.3(KANK2):c.2046G>A (p.Val682=)	KANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414934	NM_001136191.3(KANK2):c.2043C>T (p.Pro681=)	KANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3355611	NM_001136191.3(KANK2):c.2036A>G (p.Asn679Ser)	KANK2 (N679S +1 more)	Single nucleotide variant (missense variant)	KANK2-related disorder	GUncertain significance
Select item 446388	NM_001136191.3(KANK2):c.2027C>T (p.Ser676Phe)	KANK2 (S684F +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome 16	GPathogenic
Select item 2208240	NM_001136191.3(KANK2):c.2023G>A (p.Val675Met)	KANK2 (V683M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2537313	NM_001136191.3(KANK2):c.2021C>A (p.Ser674Tyr)	KANK2 (S682Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2071244	NM_001136191.3(KANK2):c.2011C>T (p.Leu671=)	KANK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 158088	NM_001136191.3(KANK2):c.2009C>T (p.Ala670Val)	KANK2 (A670V +1 more)	Single nucleotide variant (missense variant)	Wooly hair-palmoplantar keratoderma syndrome	GPathogenic
Select item 3112604	NM_001136191.3(KANK2):c.2000G>A (p.Gly667Asp)	KANK2 (G675D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2982122	NM_001136191.3(KANK2):c.1999G>A (p.Gly667Ser)	KANK2 (G667S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 777491	NM_001136191.3(KANK2):c.1998C>T (p.Asn666=)	KANK2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2895125	NM_001136191.3(KANK2):c.1987G>A (p.Ala663Thr)	KANK2 (A663T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 717273	NM_001136191.3(KANK2):c.1986C>T (p.Ile662=)	KANK2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2053965	NM_001136191.3(KANK2):c.1961G>A (p.Arg654Gln)	KANK2 (R662Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054861	NM_001136191.3(KANK2):c.1958C>T (p.Ala653Val)	KANK2 (A653V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007190	NM_001136191.3(KANK2):c.1949C>T (p.Ala650Val)	KANK2 (A658V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958996	NM_001136191.3(KANK2):c.1945C>T (p.Arg649Trp)	KANK2 (R657W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2723213	NM_001136191.3(KANK2):c.1941G>A (p.Thr647=)	KANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1997970	NM_001136191.3(KANK2):c.1932C>A (p.His644Gln)	KANK2 (H644Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914191	NM_001136191.3(KANK2):c.1928G>A (p.Arg643Gln)	KANK2 (R643Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2468919	NM_001136191.3(KANK2):c.1925G>A (p.Arg642Gln)	KANK2 (R642Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050974	NM_001136191.3(KANK2):c.1924C>T (p.Arg642Trp)	KANK2 (R642W +1 more)	Single nucleotide variant (missense variant)	KANK2-related disorder	GUncertain significance
Select item 2073775	NM_001136191.3(KANK2):c.1914C>T (p.Pro638=)	KANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706656	NM_001136191.3(KANK2):c.1911C>A (p.His637Gln)	KANK2 (H637Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2058512	NM_001136191.3(KANK2):c.1911C>T (p.His637=)	KANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2281198	NM_001136191.3(KANK2):c.1906G>A (p.Ala636Thr)	KANK2 (A636T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2428409	NM_001136191.3(KANK2):c.1905C>T (p.Asp635=)	KANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978289	NM_001136191.3(KANK2):c.1903G>A (p.Asp635Asn)	KANK2 (D635N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3531683	NM_001136191.3(KANK2):c.1898G>A (p.Arg633His)	KANK2 (R633H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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