813[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 more	Copy number loss	See cases	GPathogenic
Select item 150948	GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3	ASPA, ATP2A3 +166 more	Copy number gain	See cases	GPathogenic
Select item 58677	GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3	ANKFY1, ASPA +126 more	Copy number gain	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 151168	GRCh38/hg38 17p13.2(chr17:3782655-4472701)x3	ANKFY1, ATP2A3 +50 more	Copy number gain	See cases	GUncertain significance
Select item 3040838	NM_005173.4(ATP2A3):c.*19A>G	ATP2A3 (E1036G)	Single nucleotide variant (3 prime UTR variant +1 more)	ATP2A3-related disorder	GBenign
Select item 3059152	NM_005173.4(ATP2A3):c.*14A>G	ATP2A3	Single nucleotide variant (3 prime UTR variant +1 more)	ATP2A3-related disorder	GBenign
Select item 783748	NM_005173.4(ATP2A3):c.2980+691C>T	ATP2A3, LOC126862465	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 153733	GRCh38/hg38 17p13.2(chr17:3928523-4637233)x3	ALOX15, ANKFY1 +42 more	Copy number gain	See cases	GLikely benign
Select item 3131521	NM_005173.4(ATP2A3):c.2956T>C (p.Tyr986His)	ATP2A3, LOC126862465 (Y986H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056302	NM_005173.4(ATP2A3):c.2863-5G>A	ATP2A3, LOC126862465	Single nucleotide variant (intron variant)	ATP2A3-related disorder	GBenign
Select item 757608	NM_005173.4(ATP2A3):c.2770C>T (p.Arg924Trp)	ATP2A3 (R924W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3056246	NM_005173.4(ATP2A3):c.2751G>A (p.Ser917=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GBenign
Select item 2395824	NM_005173.4(ATP2A3):c.2750C>T (p.Ser917Leu)	ATP2A3 (S917L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033499	NM_005173.4(ATP2A3):c.2748C>T (p.Val916=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 3131520	NM_005173.4(ATP2A3):c.2746G>A (p.Val916Ile)	ATP2A3 (V916I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482326	NM_005173.4(ATP2A3):c.2737C>T (p.Leu913Phe)	ATP2A3 (L913F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542995	NM_005173.4(ATP2A3):c.2720T>C (p.Ile907Thr)	ATP2A3 (I907T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131519	NM_005173.4(ATP2A3):c.2675A>G (p.Glu892Gly)	ATP2A3 (E892G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041510	NM_005173.4(ATP2A3):c.2674G>A (p.Glu892Lys)	ATP2A3 (E892K)	Single nucleotide variant (missense variant)	ATP2A3-related disorder	GLikely benign
Select item 2349448	NM_005173.4(ATP2A3):c.2668G>A (p.Val890Met)	ATP2A3 (V890M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057024	NM_005173.4(ATP2A3):c.2659G>A (p.Asp887Asn)	ATP2A3 (D887N)	Single nucleotide variant (missense variant)	ATP2A3-related disorder	GBenign
Select item 2327762	NM_005173.4(ATP2A3):c.2642C>T (p.Pro881Leu)	ATP2A3 (P881L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527868	NM_005173.4(ATP2A3):c.2632G>A (p.Glu878Lys)	ATP2A3 (E878K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781248	NM_005173.4(ATP2A3):c.2631C>A (p.Ser877=)	ATP2A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2220198	NM_005173.4(ATP2A3):c.2593A>G (p.Ile865Val)	ATP2A3 (I865V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3057878	NM_005173.4(ATP2A3):c.2529C>T (p.Tyr843=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 3131517	NM_005173.4(ATP2A3):c.2525T>G (p.Val842Gly)	ATP2A3 (V842G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723633	NM_005173.4(ATP2A3):c.2525-6C>G	ATP2A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2329656	NM_005173.4(ATP2A3):c.2473C>G (p.Arg825Gly)	ATP2A3 (R825G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340904	NM_005173.4(ATP2A3):c.2470C>T (p.Pro824Ser)	ATP2A3 (P824S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060281	NM_005173.4(ATP2A3):c.2400C>T (p.Asp800=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GBenign
Select item 3041599	NM_005173.4(ATP2A3):c.2352C>T (p.Pro784=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 2614786	NM_005173.4(ATP2A3):c.2261A>G (p.Tyr754Cys)	ATP2A3 (Y754C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038059	NM_005173.4(ATP2A3):c.2234C>A (p.Ala745Asp)	ATP2A3 (A745D)	Single nucleotide variant (missense variant)	ATP2A3-related disorder	GLikely benign
Select item 2647243	NM_005173.4(ATP2A3):c.2229C>T (p.Ile743=)	ATP2A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2216229	NM_005173.4(ATP2A3):c.2171C>T (p.Thr724Met)	ATP2A3 (T724M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774511	NM_005173.4(ATP2A3):c.2148C>T (p.Ile716=)	ATP2A3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3059069	NM_005173.4(ATP2A3):c.2103T>C (p.Thr701=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GBenign
Select item 2589898	NM_005173.4(ATP2A3):c.2057G>A (p.Arg686His)	ATP2A3 (R686H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131516	NM_005173.4(ATP2A3):c.2035G>A (p.Val679Met)	ATP2A3 (V679M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328637	NM_005173.4(ATP2A3):c.2029G>A (p.Ala677Thr)	ATP2A3 (A677T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035339	NM_005173.4(ATP2A3):c.2021G>A (p.Arg674His)	ATP2A3 (R674H)	Single nucleotide variant (missense variant)	ATP2A3-related disorder	GBenign
Select item 402401	NM_005173.4(ATP2A3):c.2020C>T (p.Arg674Cys)	ATP2A3 (R674C)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 3328617	NM_005173.4(ATP2A3):c.2017G>A (p.Ala673Thr)	ATP2A3 (A673T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404272	NM_005173.4(ATP2A3):c.1990G>C (p.Glu664Gln)	ATP2A3 (E664Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039302	NM_005173.4(ATP2A3):c.1896C>T (p.Ala632=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GBenign
Select item 2251341	NM_005173.4(ATP2A3):c.1837C>T (p.Arg613Cys)	ATP2A3 (R613C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052294	NM_005173.4(ATP2A3):c.1809G>A (p.Pro603=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 3131514	NM_005173.4(ATP2A3):c.1805C>T (p.Pro602Leu)	ATP2A3 (P602L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131513	NM_005173.4(ATP2A3):c.1789G>A (p.Val597Ile)	ATP2A3 (V597I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050223	NM_005173.4(ATP2A3):c.1779C>T (p.Phe593=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 3328596	NM_005173.4(ATP2A3):c.1742G>A (p.Cys581Tyr)	ATP2A3 (C581Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131512	NM_005173.4(ATP2A3):c.1742G>C (p.Cys581Ser)	ATP2A3 (C581S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131511	NM_005173.4(ATP2A3):c.1738G>A (p.Asp580Asn)	ATP2A3 (D580N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059794	NM_005173.4(ATP2A3):c.1707G>C (p.Ala569=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GBenign
Select item 3056092	NM_005173.4(ATP2A3):c.1707G>A (p.Ala569=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 2544866	NM_005173.4(ATP2A3):c.1706C>T (p.Ala569Val)	ATP2A3 (A569V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2465793	NM_005173.4(ATP2A3):c.1705G>A (p.Ala569Thr)	ATP2A3 (A569T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768822	NM_005173.4(ATP2A3):c.1680C>T (p.Arg560=)	ATP2A3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2205381	NM_005173.4(ATP2A3):c.1649G>A (p.Arg550Gln)	ATP2A3 (R550Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464197	NM_005173.4(ATP2A3):c.1606C>T (p.Pro536Ser)	ATP2A3 (P536S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597655	NM_005173.4(ATP2A3):c.1586G>A (p.Arg529His)	ATP2A3 (R529H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060087	NM_005173.4(ATP2A3):c.1518T>C (p.Thr506=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GBenign
Select item 726817	NM_005173.4(ATP2A3):c.1514C>T (p.Pro505Leu)	ATP2A3 (P505L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3353143	NM_005173.4(ATP2A3):c.1497G>A (p.Thr499=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 782037	NM_005173.4(ATP2A3):c.1471C>A (p.Arg491=)	ATP2A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3042789	NM_005173.4(ATP2A3):c.1452C>T (p.Thr484=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GBenign
Select item 2515970	NM_005173.4(ATP2A3):c.1439G>A (p.Arg480Gln)	ATP2A3 (R480Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051932	NM_005173.4(ATP2A3):c.1420-4G>A	ATP2A3	Single nucleotide variant (intron variant)	ATP2A3-related disorder	GLikely benign
Select item 788151	NM_005173.4(ATP2A3):c.1420-5C>T	ATP2A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3060504	NM_005173.4(ATP2A3):c.1419+10G>A	ATP2A3	Single nucleotide variant (intron variant)	ATP2A3-related disorder	GBenign
Select item 2469101	NM_005173.4(ATP2A3):c.1400G>A (p.Arg467Gln)	ATP2A3 (R467Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041730	NM_005173.4(ATP2A3):c.1372G>A (p.Asp458Asn)	ATP2A3 (D458N)	Single nucleotide variant (missense variant)	ATP2A3-related disorder	GBenign
Select item 3039559	NM_005173.4(ATP2A3):c.1371C>T (p.Thr457=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 3328648	NM_005173.4(ATP2A3):c.1322C>T (p.Thr441Met)	ATP2A3 (T441M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034221	NM_005173.4(ATP2A3):c.1317G>A (p.Glu439=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 3059760	NM_005173.4(ATP2A3):c.1302T>C (p.Tyr434=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GBenign
Select item 3037517	NM_005173.4(ATP2A3):c.1277A>G (p.Asp426Gly)	ATP2A3 (D426G)	Single nucleotide variant (missense variant)	ATP2A3-related disorder	GLikely benign
Select item 3060953	NM_005173.4(ATP2A3):c.1272T>G (p.Ala424=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GBenign
Select item 2298322	NM_005173.4(ATP2A3):c.1192G>A (p.Gly398Arg)	ATP2A3 (G398R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463415	NM_005173.4(ATP2A3):c.1169C>A (p.Thr390Asn)	ATP2A3 (T390N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050071	NM_005173.4(ATP2A3):c.1155G>C (p.Ser385=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 3328668	NM_005173.4(ATP2A3):c.1142A>G (p.Glu381Gly)	ATP2A3 (E381G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053847	NM_005173.4(ATP2A3):c.1095+9C>T	ATP2A3	Single nucleotide variant (intron variant)	ATP2A3-related disorder	GLikely benign
Select item 722162	NM_005173.4(ATP2A3):c.996C>T (p.Ile332=)	ATP2A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3050132	NM_005173.4(ATP2A3):c.993C>T (p.Ala331=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 2538411	NM_005173.4(ATP2A3):c.990C>G (p.Asn330Lys)	ATP2A3 (N330K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326254	NM_005173.4(ATP2A3):c.973C>T (p.Arg325Cys)	ATP2A3 (R325C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131526	NM_005173.4(ATP2A3):c.971G>A (p.Arg324Gln)	ATP2A3 (R324Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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