12851[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154232	GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	ABR, ABR-AS1 +224 more	Copy number loss	See cases	GPathogenic
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 149193	GRCh38/hg38 17p13.3(chr17:162016-2099130)x1	ABR, ABR-AS1 +144 more	Copy number loss	See cases	GLikely pathogenic
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 149146	GRCh38/hg38 17p13.3(chr17:162016-1682817)x3	ABR, ABR-AS1 +84 more	Copy number gain	See cases	GLikely pathogenic
Select item 148875	GRCh38/hg38 17p13.3(chr17:162016-1904358)x1	ABR, ABR-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
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 59543	GRCh38/hg38 17p13.3(chr17:193307-1376276)x1	ABR, ABR-AS1 +56 more	Copy number loss	See cases	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 145643	GRCh38/hg38 17p13.3(chr17:198748-2685361)x1	LOC130059962, LOC130059963 +197 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 144305	GRCh38/hg38 17p13.3(chr17:198748-1920952)x1	ABR, ABR-AS1 +100 more	Copy number loss	See cases	GPathogenic
Select item 57445	GRCh38/hg38 17p13.3(chr17:198748-2261786)x1	ABR, ABR-AS1 +163 more	Copy number loss	See cases	GPathogenic
Select item 57265	GRCh38/hg38 17p13.3(chr17:198748-3102332)x1	ABR, ABR-AS1 +217 more	Copy number loss	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059869, LOC130059870 +243 more	Copy number loss	See cases	GPathogenic
Select item 58652	GRCh38/hg38 17p13.3(chr17:234496-2385512)x3	LOC130059867, LOC130059868 +178 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 58655	GRCh38/hg38 17p13.3(chr17:436763-2527511)x3	ABR, ABR-AS1 +180 more	Copy number gain	See cases	GPathogenic
Select item 58657	GRCh38/hg38 17p13.3(chr17:445331-2385512)x3	ABR, ABR-AS1 +168 more	Copy number gain	See cases	GPathogenic
Select item 57425	GRCh38/hg38 17p13.3(chr17:644280-2193615)x3	SERPINF2, SLC43A2 +134 more	Copy number gain	See cases	GPathogenic
Select item 146265	GRCh38/hg38 17p13.3(chr17:847955-1641601)x3	ABR, ABR-AS1 +43 more	Copy number gain	See cases	GPathogenic
Select item 57358	GRCh38/hg38 17p13.3(chr17:847955-1589181)x3	ABR, ABR-AS1 +42 more	Copy number gain	See cases	GPathogenic
Select item 59559	GRCh38/hg38 17p13.3(chr17:855404-1345517)x1	ABR, ABR-AS1 +19 more	Copy number loss	See cases	GPathogenic
Select item 153144	GRCh38/hg38 17p13.3(chr17:1005522-1373762)x3	ABR, ABR-AS1 +14 more	Copy number gain	See cases	GUncertain significance
Select item 57165	GRCh38/hg38 17p13.3(chr17:1065649-2261786)x1	ABR, ABR-AS1 +119 more	Copy number loss	See cases	GPathogenic
Select item 932228	GRCh38/hg38 17p13.3(chr17:1113701-1844036)x3	SERPINF1, SERPINF2 +53 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 154829	GRCh38/hg38 17p13.3(chr17:1113825-1641612)x3	ABR, ABR-AS1 +35 more	Copy number gain	See cases	GPathogenic
Select item 152588	GRCh38/hg38 17p13.3(chr17:1119701-1561544)x3	ABR, ABR-AS1 +29 more	Copy number gain	See cases	GLikely pathogenic
Select item 155491	GRCh38/hg38 17p13.3(chr17:1149477-1473293)x3	ABR, ABR-AS1 +16 more	Copy number gain	See cases	GLikely pathogenic
Select item 155705	GRCh38/hg38 17p13.3(chr17:1158140-1373950)x3	ABR, ABR-AS1 +12 more	Copy number gain	See cases	GLikely benign
Select item 58670	GRCh38/hg38 17p13.3(chr17:1174818-1634495)x3	ABR, ABR-AS1 +35 more	Copy number gain	See cases	GPathogenic
Select item 932227	GRCh38/hg38 17p13.3(chr17:1192285-1641601)x3	LOC130059870, LOC130059871 +34 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 146016	GRCh38/hg38 17p13.3(chr17:1209808-1931101)x3	ABR, BHLHA9 +51 more	Copy number gain	See cases	GPathogenic
Select item 149499	GRCh38/hg38 17p13.3(chr17:1227392-2261993)x1	ABR, BHLHA9 +114 more	Copy number loss	See cases	GPathogenic
Select item 599191	NC_000017.11:g.1227482_1458196dup	LOC130059874, LOC130059875 +9 more	Duplication	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 155112	GRCh38/hg38 17p13.3(chr17:1227482-2082382)x1	ABR, BHLHA9 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 147453	GRCh38/hg38 17p13.3(chr17:1227482-2261786)x3	LOC130059912, LOC130059913 +114 more	Copy number gain	See cases	GLikely pathogenic
Select item 57472	GRCh38/hg38 17p13.3(chr17:1227482-1506548)x1	ABR, BHLHA9 +19 more	Copy number loss	See cases	GPathogenic
Select item 59560	GRCh38/hg38 17p13.3(chr17:1281181-1541624)x1	CRK, INPP5K +16 more	Copy number loss	See cases	GPathogenic
Select item 58671	GRCh38/hg38 17p13.3(chr17:1287199-3154232)x3	INPP5K, CCDC92B +164 more	Copy number gain	See cases	GPathogenic
Select item 153533	GRCh38/hg38 17p13.3(chr17:1297523-1360904)x3	LOC121848004, TRARG1 +1 more	Copy number gain	See cases	GLikely benign
Select item 155014	GRCh38/hg38 17p13.3(chr17:1311837-1368660)x3	LOC121848004, YWHAE	Copy number gain	See cases	GLikely pathogenic
Select item 149182	GRCh38/hg38 17p13.3(chr17:1311837-1530439)x3	CRK, INPP5K +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 145986	GRCh38/hg38 17p13.3(chr17:1325785-1445161)x3	CRK, LOC112529892 +2 more	Copy number gain	See cases	GPathogenic
Select item 58672	GRCh38/hg38 17p13.3(chr17:1325809-1638055)x3	CRK, INPP5K +23 more	Copy number gain	See cases	GPathogenic
Select item 150611	GRCh38/hg38 17p13.3(chr17:1332460-1458196)x3	CRK, LOC112529892 +2 more	Copy number gain	See cases	GUncertain significance
Select item 149169	GRCh38/hg38 17p13.3(chr17:1332460-1355696)x3	LOC121848004, YWHAE	Copy number gain	See cases	GLikely pathogenic
Select item 148617	GRCh38/hg38 17p13.3(chr17:1343470-1361008)x3	LOC121848004, YWHAE	Copy number gain	See cases	GUncertain significance
Select item 1248679	NM_006761.5(YWHAE):c.156_157dup	YWHAE	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1236952	NM_006761.5(YWHAE):c.*157dup	YWHAE	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1269526	NM_006761.5(YWHAE):c.*157del	YWHAE	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 702450	NM_006761.5(YWHAE):c.756C>T (p.Asp252=)	YWHAE	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2418828	NM_006761.5(YWHAE):c.737C>T (p.Ala246Val)	YWHAE (A246V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1601034	NM_006761.5(YWHAE):c.716-13del	YWHAE	Deletion (intron variant)	not provided	GBenign
Select item 152857	GRCh38/hg38 17p13.3(chr17:1348488-1358016)x3	YWHAE	Copy number gain	See cases	GLikely pathogenic
Select item 148529	GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3	LOC130059937, LOC130059938 +174 more	Copy number gain	See cases	GLikely pathogenic
Select item 2768999	NM_006761.5(YWHAE):c.715+13G>A	YWHAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1457532	NM_006761.5(YWHAE):c.715+12C>T	YWHAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 772225	NM_006761.5(YWHAE):c.690A>G (p.Leu230=)	YWHAE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1921735	NM_006761.5(YWHAE):c.607A>G (p.Ile203Val)	YWHAE (I203V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 788199	NM_006761.5(YWHAE):c.579-9T>C	YWHAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225591	NM_006761.5(YWHAE):c.578+188C>G	YWHAE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251628	NM_006761.5(YWHAE):c.578+65C>T	YWHAE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 772366	NM_006761.5(YWHAE):c.546C>T (p.Tyr182=)	YWHAE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 705898	NM_006761.5(YWHAE):c.534C>T (p.Ser178=)	YWHAE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 703556	NM_006761.5(YWHAE):c.444C>T (p.Ser148=)	YWHAE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 719843	NM_006761.5(YWHAE):c.435G>A (p.Ala145=)	YWHAE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2790595	NM_006761.5(YWHAE):c.420C>T (p.Asp140=)	YWHAE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1600109	NM_006761.5(YWHAE):c.372-19A>T	YWHAE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1579044	NM_006761.5(YWHAE):c.372-20_372-19del	YWHAE	Deletion (intron variant)	not provided	GLikely benign
Select item 1246571	NM_006761.5(YWHAE):c.372-35dup	YWHAE	Duplication (intron variant)	not provided	GBenign
Select item 2772722	NM_006761.5(YWHAE):c.372-20T>A	YWHAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226644	NM_006761.5(YWHAE):c.372-20del	YWHAE	Deletion (intron variant)	not provided	GBenign
Select item 1258946	NM_006761.5(YWHAE):c.371+132T>G	YWHAE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1586680	NM_006761.5(YWHAE):c.371+9dup	YWHAE	Duplication (intron variant)	not provided	GLikely benign
Select item 3045237	NM_006761.5(YWHAE):c.301C>T (p.Leu101=)	YWHAE	Single nucleotide variant (synonymous variant +1 more)	YWHAE-related disorder	GLikely benign
Select item 260034	NM_006761.5(YWHAE):c.282G>A (p.Lys94=)	YWHAE	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 772616	NM_006761.5(YWHAE):c.279A>G (p.Leu93=)	YWHAE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1234092	NM_006761.5(YWHAE):c.265-15dup	YWHAE	Duplication (intron variant)	not provided	GBenign
Select item 3054036	NM_006761.5(YWHAE):c.265-3T>C	YWHAE	Single nucleotide variant (intron variant)	YWHAE-related disorder	GLikely benign
Select item 1535992	NM_006761.5(YWHAE):c.265-3del	YWHAE	Deletion (intron variant)	not provided	GBenign
Select item 1666347	NM_006761.5(YWHAE):c.265-15T>A	YWHAE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2828031	NM_006761.5(YWHAE):c.265-16del	YWHAE	Deletion (intron variant)	not provided	GBenign
Select item 1598899	NM_006761.5(YWHAE):c.265-16A>T	YWHAE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260033	NM_006761.5(YWHAE):c.265-23A>T	YWHAE	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1290876	NM_006761.5(YWHAE):c.265-210T>C	YWHAE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2575963	NM_006761.5(YWHAE):c.265-447C>G	YWHAE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2801562	NM_006761.5(YWHAE):c.264+19C>T	YWHAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1637307	NM_006761.5(YWHAE):c.264+16C>T	YWHAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3191671	NM_006761.5(YWHAE):c.247C>T (p.Arg83Trp)	YWHAE (R83W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1678193	NM_006761.5(YWHAE):c.221GAG[1] (p.Gly75del)	YWHAE (G75del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2576581	NM_006761.5(YWHAE):c.179G>A (p.Trp60Ter)	YWHAE (W60*)	Single nucleotide variant (nonsense +1 more)	YWHAE-associated disorder	GLikely pathogenic
Select item 691475	NM_006761.5(YWHAE):c.142G>A (p.Ala48Thr)	YWHAE (A48T)	Single nucleotide variant (missense variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 691476	NM_006761.5(YWHAE):c.116T>C (p.Val39Ala)	YWHAE (V39A)	Single nucleotide variant (missense variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 2054297	NM_006761.5(YWHAE):c.65-8C>T	YWHAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665437	NM_006761.5(YWHAE):c.65-16T>C	YWHAE	Single nucleotide variant (intron variant)	not provided	GLikely benign

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