3228[HGNC] - ClinVar

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Items: 53

	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 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	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 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 523161	GRCh38/hg38 17p13.1(chr17:7603519-7768486)x1	ATP1B2, DNAH2 +17 more	Copy number loss	Vascular endothelial growth factor (VEGF) inhibitor response	Gdrug response
Select item 649065	NC_000017.11:g.(?_7669599)_(8382320_?)del	LOC129390832, LOC130060171 +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	BORCS6, CHD3 +141 more	Deletion	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 3274706	NM_001406.4(EFNB3):c.5G>A (p.Gly2Glu)	EFNB3 (G2E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511416	NM_001406.4(EFNB3):c.8C>T (p.Pro3Leu)	EFNB3 (P3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461644	NM_001406.4(EFNB3):c.13C>T (p.His5Tyr)	EFNB3 (H5Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386288	NM_001406.4(EFNB3):c.26G>A (p.Gly9Glu)	EFNB3 (G9E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087574	NM_001406.4(EFNB3):c.29G>C (p.Gly10Ala)	EFNB3 (G10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496316	NM_001406.4(EFNB3):c.40G>A (p.Gly14Arg)	EFNB3 (G14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404973	NM_001406.4(EFNB3):c.272G>T (p.Arg91Leu)	EFNB3 (R91L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219369	NM_001406.4(EFNB3):c.388C>T (p.Arg130Cys)	EFNB3 (R130C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215390	NM_001406.4(EFNB3):c.389G>A (p.Arg130His)	EFNB3 (R130H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274707	NM_001406.4(EFNB3):c.421T>G (p.Ser141Ala)	EFNB3 (S141A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235534	NM_001406.4(EFNB3):c.515G>A (p.Arg172Gln)	EFNB3 (R172Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715082	NM_001406.4(EFNB3):c.521G>C (p.Gly174Ala)	EFNB3 (G174A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3274705	NM_001406.4(EFNB3):c.536A>T (p.Lys179Ile)	EFNB3 (K179I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234788	NM_001406.4(EFNB3):c.620C>T (p.Pro207Leu)	EFNB3 (P207L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274704	NM_001406.4(EFNB3):c.724G>A (p.Val242Met)	EFNB3 (V242M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087575	NM_001406.4(EFNB3):c.781A>G (p.Ser261Gly)	EFNB3 (S261G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087576	NM_001406.4(EFNB3):c.842G>A (p.Gly281Asp)	EFNB3 (G281D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087577	NM_001406.4(EFNB3):c.857G>A (p.Arg286Gln)	EFNB3 (R286Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382002	NM_001406.4(EFNB3):c.901G>A (p.Gly301Arg)	EFNB3 (G301R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087578	NM_001406.4(EFNB3):c.940G>T (p.Val314Leu)	EFNB3 (V314L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245905	NM_001406.4(EFNB3):c.983G>T (p.Gly328Val)	EFNB3 (G328V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274708	NM_001406.4(EFNB3):c.986C>T (p.Pro329Leu)	EFNB3 (P329L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2498727	GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1	ACADVL, ACAP1 +48 more	Copy number loss	not provided	GPathogenic
Select item 2423280	NC_000017.10:g.(?_7571752)_(8285628_?)del	ALOX12B, ALOX15B +33 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2423278	NC_000017.10:g.(?_7120455)_(8151423_?)del	ALOX15B, ALOXE3 +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	ACADVL, ACAP1 +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1809151	GRCh37/hg19 17p13.1(chr17:7381537-8068400)x3	ALOX12B, ALOX15B +37 more	Copy number gain	not provided	GUncertain significance
Select item 1526568	GRCh37/hg19 17p13.1(chr17:7593552-8225803)	ALOX12B, ALOX15B +29 more	Copy number gain	not specified	GUncertain significance
Select item 1526567	GRCh37/hg19 17p13.1(chr17:7241916-8692213)	ACAP1, ALOX12B +65 more	Copy number loss	not specified	GPathogenic
Select item 1526566	GRCh37/hg19 17p13.1(chr17:7020054-8086290)	ACADVL, ACAP1 +64 more	Copy number loss	not specified	GPathogenic
Select item 1455106	NC_000017.10:g.(?_7578518)_(7658855_?)del	DNAH2, EFNB3 +2 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 1376044	NC_000017.10:g.(?_7571752)_(8135555_?)del	TRR-TCT2-1, VAMP2 +26 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 1341139	GRCh37/hg19 17p13.1(chr17:7453504-7734096)x3	FXR2, CD68 +14 more	Copy number gain	not provided	GUncertain significance
Select item 980123	GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3	TMEM102, TNFSF12 +74 more	Copy number gain	not provided	GPathogenic
Select item 831200	NC_000017.10:g.(?_6589506)_(8151374_?)dup	DNAH2, DVL2 +81 more	Duplication	Common variable immunodeficiency +1 more	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 523158	GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1	ACADVL, ACAP1 +75 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 442648	GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3	ALOX12B, ALOX15B +61 more	Copy number gain	See cases	GUncertain significance
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

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Items: 53