29424[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	PIP5K1C, PLIN4 +142 more	Copy number loss	See cases	GPathogenic
Select item 155547	GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	ANKRD24, ARRDC5 +150 more	Copy number loss	See cases	GLikely pathogenic
Select item 144751	GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3	ANKRD24, ARRDC5 +145 more	Copy number gain	See cases	GUncertain significance
Select item 59083	GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3	ANKRD24, CHAF1A +99 more	Copy number gain	See cases	GPathogenic
Select item 3124254	NM_001393985.1(ANKRD24):c.92T>C (p.Ile31Thr)	ANKRD24 (I31T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517661	NM_001393985.1(ANKRD24):c.118C>T (p.Arg40Cys)	ANKRD24 (R40C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412021	NM_001393985.1(ANKRD24):c.119G>A (p.Arg40His)	ANKRD24 (R40H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124125	NM_001393985.1(ANKRD24):c.209G>T (p.Arg70Leu)	ANKRD24 (R70L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124143	NM_001393985.1(ANKRD24):c.221T>C (p.Val74Ala)	ANKRD24 (V45A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281699	NM_001393985.1(ANKRD24):c.281C>T (p.Ala94Val)	ANKRD24 (A78V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124178	NM_001393985.1(ANKRD24):c.286A>G (p.Ser96Gly)	ANKRD24 (S68G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296749	NM_001393985.1(ANKRD24):c.396G>C (p.Lys132Asn)	ANKRD24 (K103N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399701	NM_001393985.1(ANKRD24):c.418G>A (p.Val140Met)	ANKRD24 (V111M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649031	NM_001393985.1(ANKRD24):c.521T>C (p.Leu174Pro)	ANKRD24 (L145P +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3124217	NM_001393985.1(ANKRD24):c.536G>A (p.Arg179Gln)	ANKRD24 (R151Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300012	NM_001393985.1(ANKRD24):c.536G>C (p.Arg179Pro)	ANKRD24 (R151P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227296	NM_001393985.1(ANKRD24):c.536G>T (p.Arg179Leu)	ANKRD24 (R179L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456274	NM_001393985.1(ANKRD24):c.544G>A (p.Ala182Thr)	ANKRD24 (A166T +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2328240	NM_001393985.1(ANKRD24):c.548C>T (p.Thr183Ile)	ANKRD24 (T154I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296240	NM_001393985.1(ANKRD24):c.638A>G (p.Gln213Arg)	ANKRD24 (Q213R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124236	NM_001393985.1(ANKRD24):c.770C>T (p.Ala257Val)	ANKRD24 (A228V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296764	NM_001393985.1(ANKRD24):c.779A>C (p.Lys260Thr)	ANKRD24 (K231T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124239	NM_001393985.1(ANKRD24):c.824C>A (p.Pro275Gln)	ANKRD24 (P275Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592606	NM_001393985.1(ANKRD24):c.847G>T (p.Asp283Tyr)	ANKRD24 (D267Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593143	NM_001393985.1(ANKRD24):c.856G>A (p.Glu286Lys)	ANKRD24 (E257K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124250	NM_001393985.1(ANKRD24):c.902C>T (p.Ala301Val)	ANKRD24 (A310V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215352	NM_001393985.1(ANKRD24):c.920C>T (p.Ala307Val)	ANKRD24 (A291V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124257	NM_001393985.1(ANKRD24):c.970G>A (p.Glu324Lys)	ANKRD24 (E296K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311061	NM_001393985.1(ANKRD24):c.1003C>T (p.Arg335Cys)	ANKRD24 (R307C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310829	NM_001393985.1(ANKRD24):c.1039A>G (p.Lys347Glu)	ANKRD24 (K356E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495207	NM_001393985.1(ANKRD24):c.1064C>T (p.Pro355Leu)	ANKRD24 (P339L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489776	NM_001393985.1(ANKRD24):c.1180C>T (p.Arg394Trp)	ANKRD24 (R394W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618531	NM_001393985.1(ANKRD24):c.1205G>A (p.Arg402Gln)	ANKRD24 (R373Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323287	NM_001393985.1(ANKRD24):c.1264C>T (p.Leu422Phe)	ANKRD24 (L406F +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391820	NM_001393985.1(ANKRD24):c.1291A>G (p.Arg431Gly)	ANKRD24 (R402G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282842	NM_001393985.1(ANKRD24):c.1307C>T (p.Ser436Leu)	ANKRD24 (S408L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384794	NM_001393985.1(ANKRD24):c.1377G>A (p.Met459Ile)	ANKRD24 (M468I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213022	NM_001393985.1(ANKRD24):c.1425G>T (p.Met475Ile)	ANKRD24 (M446I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260883	NM_001393985.1(ANKRD24):c.1466A>G (p.Tyr489Cys)	ANKRD24 (Y461C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124067	NM_001393985.1(ANKRD24):c.1483G>A (p.Glu495Lys)	ANKRD24 (E466K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478027	NM_001393985.1(ANKRD24):c.1489G>A (p.Asp497Asn)	ANKRD24 (D506N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403939	NM_001393985.1(ANKRD24):c.1597G>A (p.Gly533Arg)	ANKRD24 (G517R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124074	NM_001393985.1(ANKRD24):c.1643G>T (p.Gly548Val)	ANKRD24 (G532V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124076	NM_001393985.1(ANKRD24):c.1671C>T (p.Asn557=)	ANKRD24	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2342056	NM_001393985.1(ANKRD24):c.1720G>T (p.Ala574Ser)	ANKRD24 (A545S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518394	NM_001393985.1(ANKRD24):c.1727C>T (p.Thr576Ile)	ANKRD24 (T547I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365803	NM_001393985.1(ANKRD24):c.1745C>T (p.Thr582Met)	ANKRD24 (T582M +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3124087	NM_001393985.1(ANKRD24):c.1772C>A (p.Ala591Asp)	ANKRD24 (A562D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349511	NM_001393985.1(ANKRD24):c.1844A>C (p.Glu615Ala)	ANKRD24 (E586A +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2553754	NM_001393985.1(ANKRD24):c.1847C>G (p.Ala616Gly)	ANKRD24 (A587G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124099	NM_001393985.1(ANKRD24):c.1849A>G (p.Asn617Asp)	ANKRD24 (N588D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296754	NM_001393985.1(ANKRD24):c.1898C>T (p.Thr633Met)	ANKRD24 (T642M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463113	NM_001393985.1(ANKRD24):c.1901G>T (p.Gly634Val)	ANKRD24 (G605V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124103	NM_001393985.1(ANKRD24):c.1914G>A (p.Met638Ile)	ANKRD24 (M610I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213023	NM_001393985.1(ANKRD24):c.1939G>A (p.Ala647Thr)	ANKRD24 (A656T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124110	NM_001393985.1(ANKRD24):c.1948G>A (p.Ala650Thr)	ANKRD24 (A622T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363505	NM_001393985.1(ANKRD24):c.1966G>A (p.Gly656Arg)	ANKRD24 (G627R +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2317867	NM_001393985.1(ANKRD24):c.2042G>A (p.Gly681Glu)	ANKRD24 (G652E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401193	NM_001393985.1(ANKRD24):c.2063G>C (p.Ser688Thr)	ANKRD24 (S688T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519054	NM_001393985.1(ANKRD24):c.2099C>T (p.Thr700Met)	ANKRD24 (T700M +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2377057	NM_001393985.1(ANKRD24):c.2105C>T (p.Pro702Leu)	ANKRD24 (P674L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495310	NM_001393985.1(ANKRD24):c.2158A>G (p.Lys720Glu)	ANKRD24 (K729E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124131	NM_001393985.1(ANKRD24):c.2167G>A (p.Val723Ile)	ANKRD24 (V732I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316408	NM_001393985.1(ANKRD24):c.2168T>G (p.Val723Gly)	ANKRD24 (V694G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358073	NM_001393985.1(ANKRD24):c.2209C>T (p.Arg737Trp)	ANKRD24 (R708W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124141	NM_001393985.1(ANKRD24):c.2215C>T (p.Arg739Trp)	ANKRD24 (R748W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343569	NM_001393985.1(ANKRD24):c.2294G>C (p.Arg765Pro)	ANKRD24 (R736P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486214	NM_001393985.1(ANKRD24):c.2488C>T (p.Arg830Trp)	ANKRD24 (R802W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512546	NM_001393985.1(ANKRD24):c.2491G>C (p.Gly831Arg)	ANKRD24 (G803R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622867	NM_001393985.1(ANKRD24):c.2500G>A (p.Ala834Thr)	ANKRD24 (A834T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291315	NM_001393985.1(ANKRD24):c.2530C>G (p.Leu844Val)	ANKRD24 (L815V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410014	NM_001393985.1(ANKRD24):c.2576C>T (p.Thr859Met)	ANKRD24 (T830M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212622	NM_001393985.1(ANKRD24):c.2606C>T (p.Thr869Met)	ANKRD24 (T840M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294875	NM_001393985.1(ANKRD24):c.2650C>G (p.Arg884Gly)	ANKRD24 (R855G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124169	NM_001393985.1(ANKRD24):c.2701G>A (p.Glu901Lys)	ANKRD24 (E873K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350905	NM_001393985.1(ANKRD24):c.2774A>C (p.Glu925Ala)	ANKRD24 (E909A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304948	NM_001393985.1(ANKRD24):c.2788C>T (p.Arg930Trp)	ANKRD24 (R914W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336145	NM_001393985.1(ANKRD24):c.2822T>G (p.Val941Gly)	ANKRD24 (V913G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296740	NM_001393985.1(ANKRD24):c.2969G>T (p.Arg990Leu)	ANKRD24 (R961L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348778	NM_001393985.1(ANKRD24):c.2981A>C (p.Lys994Thr)	ANKRD24 (K994T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124184	NM_001393985.1(ANKRD24):c.2984C>T (p.Thr995Ile)	ANKRD24 (T1004I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607418	NM_001393985.1(ANKRD24):c.2988C>A (p.Ser996Arg)	ANKRD24 (S967R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312265	NM_001393985.1(ANKRD24):c.2989G>T (p.Ala997Ser)	ANKRD24 (A1006S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251530	NM_001393985.1(ANKRD24):c.3032G>C (p.Ser1011Thr)	ANKRD24 (S982T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461039	NM_001393985.1(ANKRD24):c.3049G>A (p.Glu1017Lys)	ANKRD24 (E1017K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265694	NM_001393985.1(ANKRD24):c.3070G>C (p.Glu1024Gln)	ANKRD24 (E1033Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601915	NM_001393985.1(ANKRD24):c.3113G>T (p.Arg1038Leu)	ANKRD24 (R1038L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124199	NM_001393985.1(ANKRD24):c.3119C>A (p.Ala1040Asp)	ANKRD24 (A1040D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349901	NM_001393985.1(ANKRD24):c.3119C>T (p.Ala1040Val)	ANKRD24 (A1011V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294612	NM_001393985.1(ANKRD24):c.3247G>A (p.Glu1083Lys)	ANKRD24 (E1054K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490755	NM_001393985.1(ANKRD24):c.3305C>T (p.Ala1102Val)	ANKRD24 (A1086V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649032	NM_001393985.1(ANKRD24):c.3321C>T (p.Ser1107=)	ANKRD24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1330559	NM_001393985.1(ANKRD24):c.3322G>A (p.Val1108Met)	ANKRD24 (V1079M +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2402515	NM_001393985.1(ANKRD24):c.3436C>T (p.Arg1146Cys)	ANKRD24 (R1118C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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