ClinVar for Gene (Select 125144) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 2647507	NM_001113567.3(LRRC75A):c.330C>T (p.His110=)	LRRC75A, SNHG29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2524543	NM_001113567.3(LRRC75A):c.305G>A (p.Arg102Gln)	LRRC75A, SNHG29 (R102Q)	Single nucleotide variant (missense variant)	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 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 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 2463428	NM_001113567.3(LRRC75A):c.361C>T (p.His121Tyr)	LRRC75A, SNHG29 (H121Y)	Single nucleotide variant (missense variant)	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 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 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 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
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 155648	GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3	LOC130060361, LOC130060362 +281 more	Copy number gain	See cases	GPathogenic
Select item 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	FAM106C, FAM83G +311 more	Copy number loss	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 155110	GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	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 153990	GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3	ADORA2B, ALKBH5 +240 more	Copy number gain	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 150691	GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1	ADORA2B, AKAP10 +311 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 60433	GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1	ALKBH5, ATPAF2 +190 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 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 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 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	ADORA2B, AKAP10 +333 more	Copy number gain	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 56996	GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1	LOC130060335, LOC130060336 +217 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 36