805[HGNC] - ClinVar

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Items: 46

	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 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 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 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 150702	GRCh38/hg38 17p13.1(chr17:7544902-7670581)x3	ATP1B2, CD68 +36 more	Copy number gain	See cases	GUncertain significance
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 2344135	NM_001678.5(ATP1B2):c.227G>A (p.Arg76Gln)	ATP1B2 (R76Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131486	NM_001678.5(ATP1B2):c.349T>A (p.Tyr117Asn)	ATP1B2 (Y35N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282206	NM_001678.5(ATP1B2):c.352A>C (p.Asn118His)	ATP1B2 (N118H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328450	NM_001678.5(ATP1B2):c.371A>G (p.Gln124Arg)	ATP1B2 (Q42R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395761	NM_001678.5(ATP1B2):c.388C>T (p.Arg130Cys)	ATP1B2 (R48C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365185	NM_001678.5(ATP1B2):c.406G>A (p.Glu136Lys)	ATP1B2 (E136K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328441	NM_001678.5(ATP1B2):c.443G>A (p.Arg148His)	ATP1B2 (R148H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328471	NM_001678.5(ATP1B2):c.452A>G (p.Gln151Arg)	ATP1B2 (Q151R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508832	NM_001678.5(ATP1B2):c.472G>A (p.Gly158Ser)	ATP1B2 (G76S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568426	NM_001678.5(ATP1B2):c.488T>C (p.Ile163Thr)	ATP1B2 (I81T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353944	NM_001678.5(ATP1B2):c.538A>C (p.Ile180Leu)	ATP1B2 (I180L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280469	NM_001678.5(ATP1B2):c.554T>C (p.Val185Ala)	ATP1B2 (V103A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131487	NM_001678.5(ATP1B2):c.566A>G (p.Tyr189Cys)	ATP1B2 (Y107C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328460	NM_001678.5(ATP1B2):c.611G>A (p.Arg204Gln)	ATP1B2 (R122Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543783	NM_001678.5(ATP1B2):c.623C>T (p.Ala208Val)	ATP1B2 (A126V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349100	NM_001678.5(ATP1B2):c.634G>A (p.Gly212Ser)	ATP1B2 (G212S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131488	NM_001678.5(ATP1B2):c.838C>T (p.Arg280Cys)	ATP1B2 (R280C +1 more)	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 2424768	NC_000017.10:g.(?_7123304)_(7606804_?)del	ACADVL, ACAP1 +40 more	Deletion	Common variable immunodeficiency	GUncertain significance
Select item 2423278	NC_000017.10:g.(?_7120455)_(8151423_?)del	ALOX12B, ALOX15B +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 2422136	NC_000017.10:g.(?_6328780)_(7606804_?)dup	ACADVL, ACAP1 +62 more	Duplication	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 1809151	GRCh37/hg19 17p13.1(chr17:7381537-8068400)x3	ALOX12B, ALOX15B +37 more	Copy number gain	not provided	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 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: 46