LRRC75A[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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)	LRRC75A, LOC130060337 (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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 72