64359[geneid] - 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 152858	GRCh38/hg38 17p13.3(chr17:179378-813490)x1	DOC2B, GEMIN4 +35 more	Copy number loss	See cases	GUncertain significance
Select item 154410	GRCh38/hg38 17p13.3(chr17:186959-969740)x1	GEMIN4, GLOD4 +39 more	Copy number loss	See cases	GUncertain significance
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 60096	GRCh38/hg38 17p13.3(chr17:279611-848014)x3	GEMIN4, GLOD4 +34 more	Copy number gain	See cases	GUncertain significance
Select item 147604	GRCh38/hg38 17p13.3(chr17:333871-880361)x3	LOC130059863, LOC130059864 +33 more	Copy number gain	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 147603	GRCh38/hg38 17p13.3(chr17:445331-823474)x3	GEMIN4, GLOD4 +23 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 148727	GRCh38/hg38 17p13.3(chr17:523549-1311896)x1	ABR, ABR-AS1 +41 more	Copy number loss	See cases	GLikely benign
Select item 57425	GRCh38/hg38 17p13.3(chr17:644280-2193615)x3	SERPINF2, SLC43A2 +134 more	Copy number gain	See cases	GPathogenic
Select item 147864	GRCh38/hg38 17p13.3(chr17:759449-999134)x3	GLOD4, LOC101927727 +10 more	Copy number gain	See cases	GUncertain significance
Select item 1274216	NM_022463.5(NXN):c.*172T>C	NXN	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1259938	NM_022463.5(NXN):c.*147A>C	NXN	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3042592	NM_022463.5(NXN):c.*2G>A	NXN	Single nucleotide variant (3 prime UTR variant)	NXN-related disorder	GLikely benign
Select item 2998750	NM_022463.5(NXN):c.1299G>A (p.Glu433=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1632688	NM_022463.5(NXN):c.1296G>A (p.Pro432=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1353251	NM_022463.5(NXN):c.1257G>C (p.Glu419Asp)	NXN (E311D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2297541	NM_022463.5(NXN):c.1256A>G (p.Glu419Gly)	NXN (E311G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647179	NM_022463.5(NXN):c.1251C>T (p.Ile417=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 488062	NM_022463.5(NXN):c.1231GAG[1] (p.Glu412del)	NXN (E304del +1 more)	Microsatellite (inframe_deletion)	Robinow syndrome, autosomal recessive 2	GPathogenic
Select item 2353152	NM_022463.5(NXN):c.1233G>C (p.Glu411Asp)	NXN (E303D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1905350	NM_022463.5(NXN):c.1230G>A (p.Val410=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991603	NM_022463.5(NXN):c.1218C>T (p.Tyr406=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2057173	NM_022463.5(NXN):c.1185C>T (p.Leu395=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1467618	NM_022463.5(NXN):c.1174G>T (p.Ala392Ser)	NXN (A284S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2317743	NM_022463.5(NXN):c.1162C>G (p.Leu388Val)	NXN (L388V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1986198	NM_022463.5(NXN):c.1155C>T (p.Tyr385=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014716	NM_022463.5(NXN):c.1126-9C>T	NXN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266203	NM_022463.5(NXN):c.1126-109G>T	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236498	NM_022463.5(NXN):c.1126-129C>A	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179586	NM_022463.5(NXN):c.1125+60C>G	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1647284	NM_022463.5(NXN):c.1125+9G>A	NXN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 787988	NM_022463.5(NXN):c.1125+8C>T	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2826134	NM_022463.5(NXN):c.1125+6dup	NXN	Duplication (intron variant)	not provided	GLikely benign
Select item 2021484	NM_022463.5(NXN):c.1125+7G>A	NXN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2161344	NM_022463.5(NXN):c.1120G>A (p.Gly374Arg)	NXN (G374R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 768809	NM_022463.5(NXN):c.1114G>A (p.Val372Ile)	NXN (V264I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3203496	NM_022463.5(NXN):c.1090G>A (p.Glu364Lys)	NXN (E364K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2198286	NM_022463.5(NXN):c.1050G>A (p.Pro350=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1367499	NM_022463.5(NXN):c.1045C>G (p.Gln349Glu)	NXN (Q349E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1603704	NM_022463.5(NXN):c.1035G>A (p.Lys345=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975747	NM_022463.5(NXN):c.1026G>A (p.Glu342=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1469810	NM_022463.5(NXN):c.1025A>T (p.Glu342Val)	NXN (E342V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2747957	NM_022463.5(NXN):c.1021_1024del (p.Ser341fs)	NXN (S341fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2907960	NM_022463.5(NXN):c.1023C>T (p.Ser341=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1924664	NM_022463.5(NXN):c.1015G>A (p.Gly339Arg)	NXN (G339R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921028	NM_022463.5(NXN):c.1014C>T (p.Asp338=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1640871	NM_022463.5(NXN):c.1001-14C>T	NXN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266735	NM_022463.5(NXN):c.1001-16C>T	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1930102	NM_022463.5(NXN):c.1001-18C>A	NXN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280021	NM_022463.5(NXN):c.1001-106C>T	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267982	NM_022463.5(NXN):c.1001-128G>C	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266173	NM_022463.5(NXN):c.1000+85C>T	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229232	NM_022463.5(NXN):c.1000+44C>G	NXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2957527	NM_022463.5(NXN):c.1000+14G>A	NXN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600243	NM_022463.5(NXN):c.1000+13C>T	NXN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1660810	NM_022463.5(NXN):c.987C>T (p.Leu329=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1582874	NM_022463.5(NXN):c.972C>T (p.Asn324=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2554922	NM_022463.5(NXN):c.970A>G (p.Asn324Asp)	NXN (N216D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1233495	NM_022463.5(NXN):c.963G>A (p.Ala321=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 791560	NM_022463.5(NXN):c.962C>T (p.Ala321Val)	NXN (A321V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1980114	NM_022463.5(NXN):c.960C>T (p.Ala320=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1910134	NM_022463.5(NXN):c.958G>A (p.Ala320Thr)	NXN (A320T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1608300	NM_022463.5(NXN):c.951C>T (p.Asp317=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991848	NM_022463.5(NXN):c.949G>A (p.Asp317Asn)	NXN (D209N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2709976	NM_022463.5(NXN):c.948C>G (p.Ser316=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1507906	NM_022463.5(NXN):c.934G>C (p.Val312Leu)	NXN (V312L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164784	NM_022463.5(NXN):c.933C>T (p.Pro311=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1458243	NM_022463.5(NXN):c.933C>G (p.Pro311=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1368183	NM_022463.5(NXN):c.907C>T (p.Arg303Trp)	NXN (R195W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1570549	NM_022463.5(NXN):c.897C>T (p.Asp299=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1557013	NM_022463.5(NXN):c.894C>T (p.Asn298=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2042164	NM_022463.5(NXN):c.882G>A (p.Val294=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1673816	NM_022463.5(NXN):c.876G>T (p.Gly292=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2059321	NM_022463.5(NXN):c.867G>A (p.Thr289=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1414476	NM_022463.5(NXN):c.859G>T (p.Val287Leu)	NXN (V179L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2012881	NM_022463.5(NXN):c.849G>T (p.Pro283=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1602117	NM_022463.5(NXN):c.849G>C (p.Pro283=)	NXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1665141	NM_022463.5(NXN):c.821-14C>G	NXN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2017252	NM_022463.5(NXN):c.821-16C>T	NXN	Single nucleotide variant (intron variant)	not provided	GLikely benign

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