388325[Gene ID] - ClinVar

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Items: 36

	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 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	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 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic
Select item 150854	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3	ALOX15, ANKFY1 +141 more	Copy number gain	See cases	GLikely benign
Select item 2219795	NM_207103.3(SCIMP):c.271C>G (p.Leu91Val)	SCIMP, ZNF594-DT (L91V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316467	NM_207103.3(SCIMP):c.268T>G (p.Ser90Ala)	SCIMP, ZNF594-DT (S83A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158421	NM_207103.3(SCIMP):c.227C>T (p.Ser76Leu)	SCIMP, ZNF594-DT (S69L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158420	NM_207103.3(SCIMP):c.179A>G (p.His60Arg)	SCIMP, ZNF594-DT (H53R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 813014	NM_207103.3(SCIMP):c.99T>C (p.Gly33=)	SCIMP, ZNF594-DT	Single nucleotide variant (non-coding transcript variant +1 more)	Head and neck cancer	GUncertain significance
Select item 3158423	NM_207103.3(SCIMP):c.86T>C (p.Val29Ala)	SCIMP, ZNF594-DT (V29A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3158422	NM_207103.3(SCIMP):c.85G>A (p.Val29Ile)	SCIMP, ZNF594-DT (V29I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3316466	NM_207103.3(SCIMP):c.76G>A (p.Ala26Thr)	SCIMP, ZNF594-DT (A26T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2220155	NM_207103.3(SCIMP):c.12C>A (p.Phe4Leu)	SCIMP, ZNF594-DT (F4L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 2685595	GRCh37/hg19 17p13.2(chr17:5133734-5213420)x1	RABEP1, SCIMP	Copy number loss	not provided	GUncertain significance
Select item 1809320	GRCh37/hg19 17p13.2(chr17:4658216-5266343)x3	C17orf107, CAMTA2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1808317	GRCh37/hg19 17p13.2(chr17:4867994-5233679)x1	CAMTA2, INCA1 +9 more	Copy number loss	not provided	GUncertain significance
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	ABR, ALOX15 +115 more	Copy number loss	See cases	GPathogenic
Select item 688934	GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1	ALOX15, ANKFY1 +48 more	Copy number loss	not provided	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	ABR, ALOX15 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564392	GRCh37/hg19 17p13.2(chr17:4036861-5174346)x3	CXCL16, SLC52A1 +36 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic

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Items: 36