32403[HGNC] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 154979	GRCh38/hg38 17p12-11.2(chr17:15066799-17472457)x1	ADORA2B, CCDC144A +137 more	Copy number loss	See cases	GPathogenic
Select item 148088	GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3	LOC284191, LRRC75A +216 more	Copy number gain	See cases	GPathogenic
Select item 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	ADORA2B, AKAP10 +333 more	Copy number gain	See cases	GPathogenic
Select item 58107	GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3	ADORA2B, AKAP10 +337 more	Copy number gain	See cases	GPathogenic
Select item 153990	GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3	ADORA2B, ALKBH5 +240 more	Copy number gain	See cases	GPathogenic
Select item 155418	GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1	LOC126862516, LOC126862517 +314 more	Copy number loss	See cases	GPathogenic
Select item 56996	GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1	LOC130060335, LOC130060336 +217 more	Copy number loss	See cases	GPathogenic
Select item 153341	GRCh38/hg38 17p12-11.2(chr17:15784832-16860143)x3	ADORA2B, CCDC144A +64 more	Copy number gain	See cases	GUncertain significance
Select item 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	FAM106C, FAM83G +311 more	Copy number loss	See cases	GPathogenic
Select item 155110	GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 150691	GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 57018	GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 60429	GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1	ADORA2B, ALKBH5 +199 more	Copy number loss	See cases	GPathogenic
Select item 60433	GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1	ALKBH5, ATPAF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 155648	GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3	LOC130060361, LOC130060362 +281 more	Copy number gain	See cases	GPathogenic
Select item 3120948	NM_001113567.3(LRRC75A):c.979G>A (p.Ala327Thr)	LRRC75A, SNHG29 (A327T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551793	NM_001113567.3(LRRC75A):c.937G>A (p.Glu313Lys)	LRRC75A, SNHG29 (E313K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470224	NM_001113567.3(LRRC75A):c.857G>A (p.Arg286His)	LRRC75A, SNHG29 (R286H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120947	NM_001113567.3(LRRC75A):c.757A>G (p.Ile253Val)	LRRC75A, SNHG29 (I253V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120946	NM_001113567.3(LRRC75A):c.729C>A (p.Thr243=)	LRRC75A, SNHG29 (P205T)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3291757	NM_001113567.3(LRRC75A):c.722G>A (p.Arg241Gln)	LRRC75A, SNHG29 (R241Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788905	NM_001113567.3(LRRC75A):c.692G>A (p.Arg231His)	LRRC75A, SNHG29 (R231H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3120945	NM_001113567.3(LRRC75A):c.687G>A (p.Leu229=)	LRRC75A, SNHG29 (A191T)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2242651	NM_001113567.3(LRRC75A):c.563G>A (p.Arg188Gln)	LRRC75A, SNHG29 (R188Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544803	NM_001113567.3(LRRC75A):c.558C>T (p.Thr186=)	LRRC75A, SNHG29 (L148F)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2334770	NM_001113567.3(LRRC75A):c.523G>A (p.Asp175Asn)	LRRC75A, SNHG29 (D175N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511280	NM_001113567.3(LRRC75A):c.521C>A (p.Pro174Gln)	LRRC75A, SNHG29 (P174Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346727	NM_001113567.3(LRRC75A):c.460C>T (p.Arg154Trp)	LRRC75A, SNHG29 (R154W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120944	NM_001113567.3(LRRC75A):c.413G>A (p.Arg138Gln)	LRRC75A, SNHG29 (R138Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514925	NM_001113567.3(LRRC75A):c.394G>A (p.Ala132Thr)	LRRC75A, SNHG29 (A132T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3120943	NM_001113567.3(LRRC75A):c.379G>A (p.Gly127Ser)	LRRC75A, SNHG29 (G127S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463428	NM_001113567.3(LRRC75A):c.361C>T (p.His121Tyr)	LRRC75A, SNHG29 (H121Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647507	NM_001113567.3(LRRC75A):c.330C>T (p.His110=)	LRRC75A, SNHG29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2524543	NM_001113567.3(LRRC75A):c.305G>A (p.Arg102Gln)	LRRC75A, SNHG29 (R102Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120942	NM_001113567.3(LRRC75A):c.152A>G (p.Tyr51Cys)	LOC130060336, LRRC75A (Y51C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534257	NM_001113567.3(LRRC75A):c.142A>C (p.Met48Leu)	LOC130060336, LRRC75A (M48L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3120941	NM_001113567.3(LRRC75A):c.113G>C (p.Gly38Ala)	LRRC75A (G38A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482199	NM_001113567.3(LRRC75A):c.68G>A (p.Arg23Gln)	LRRC75A (R23Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291758	NM_001113567.3(LRRC75A):c.52G>A (p.Ala18Thr)	LRRC75A (A18T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291760	NM_001113567.3(LRRC75A):c.36G>C (p.Glu12Asp)	LRRC75A (E12D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262682	NM_001113567.3(LRRC75A):c.20A>T (p.Lys7Met)	LOC130060337, LRRC75A (K7M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262681	NM_001113567.3(LRRC75A):c.16A>C (p.Thr6Pro)	LOC130060337, LRRC75A (T6P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262680	NM_001113567.3(LRRC75A):c.14A>T (p.Gln5Leu)	LOC130060337, LRRC75A (Q5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063517	GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not specified	GPathogenic
Select item 3063493	GRCh37/hg19 17p12-11.2(chr17:15872060-16909718)x3	ADORA2B, CCDC144A +11 more	Copy number gain	not specified	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 2685597	GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not provided	GPathogenic
Select item 2684837	GRCh37/hg19 17p11.2(chr17:16193908-16490573)x3	CENPV, LRRC75A +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684836	GRCh37/hg19 17p12-11.2(chr17:15633208-16567624)x3	ADORA2B, CENPV +10 more	Copy number gain	not provided	GUncertain significance
Select item 1809485	GRCh37/hg19 17p12-11.2(chr17:15754174-16657319)x3	ADORA2B, CCDC144A +10 more	Copy number gain	not provided	GUncertain significance
Select item 1809433	GRCh37/hg19 17p11.2(chr17:16293557-16421075)x3	LRRC75A, TRPV2	Copy number gain	not provided	GUncertain significance
Select item 1808102	GRCh37/hg19 17p12-11.2(chr17:15722840-16653256)x3	ADORA2B, CCDC144A +10 more	Copy number gain	not provided	GUncertain significance
Select item 1703602	Single allele	ADORA2B, AKAP10 +78 more	Complex	PMP22-RAI1 contiguous gene duplication syndrome	GPathogenic
Select item 1703553	Single allele	ATPAF2, CCDC144A +17 more	Complex	Potocki-Lupski syndrome	GPathogenic
Select item 980122	GRCh37/hg19 17p12-11.2(chr17:15688146-16769801)x3	CENPV, LRRC75A +10 more	Copy number gain	not provided	GUncertain significance
Select item 980121	GRCh37/hg19 17p12-11.2(chr17:15688146-16756345)x1	UBB, TRPV2 +10 more	Copy number loss	not provided	GUncertain significance
Select item 980120	GRCh37/hg19 17p12-11.2(chr17:15810015-18537436)x1	ADORA2B, ALKBH5 +37 more	Copy number loss	not provided	GPathogenic
Select item 832395	NC_000017.11:g.(?_16217207)_(16972095_?)dup	CCDC144A, CENPV +7 more	Duplication	not provided	GUncertain significance
Select item 815910	GRCh37/hg19 17p12-11.2(chr17:15730101-16591260)x3	ZNF287, CENPV +9 more	Copy number gain	not provided	GUncertain significance
Select item 815909	GRCh37/hg19 17p12-11.2(chr17:15722839-16763698)x3	ZSWIM7, ADORA2B +10 more	Copy number gain	not provided	GUncertain significance
Select item 815908	GRCh37/hg19 17p12-11.2(chr17:15632431-18726389)x1	ADORA2B, ALKBH5 +42 more	Copy number loss	not provided	GPathogenic
Select item 688231	GRCh37/hg19 17p12-11.2(chr17:15722823-16796616)x3	ADORA2B, CCDC144A +10 more	Copy number gain	not provided	GUncertain significance
Select item 688172	GRCh37/hg19 17p12-11.2(chr17:15659400-16591180)x1	ADORA2B, CENPV +9 more	Copy number loss	not provided	GUncertain significance
Select item 686461	GRCh37/hg19 17p12-11.2(chr17:15599193-16756435)x3	ADORA2B, CCDC144A +12 more	Copy number gain	not provided	GUncertain significance
Select item 686350	GRCh37/hg19 17p12-11.2(chr17:15688146-16591261)x3	ADORA2B, CENPV +9 more	Copy number gain	not provided	GUncertain significance
Select item 442472	GRCh37/hg19 17p12-11.2(chr17:15688146-16727265)x3	ADORA2B, CCDC144A +10 more	Copy number gain	See cases	GLikely benign
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 394560	GRCh37/hg19 17p12-11.2(chr17:15745315-20261191)x1	ADORA2B, AKAP10 +59 more	Copy number loss	See cases	GPathogenic
Select item 253611	GRCh37/hg19 17p12-11.2(chr17:15767020-20261250)x3	ADORA2B, AKAP10 +59 more	Copy number gain	See cases	GPathogenic

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Items: 72