ClinVar for Gene (Select 55540) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285773	NM_018725.4(IL17RB):c.239T>C (p.Leu80Ser)	IL17RB (L80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285772	NM_018725.4(IL17RB):c.795A>T (p.Lys265Asn)	IL17RB (K265N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250527	NM_018725.4(IL17RB):c.529G>A (p.Gly177Arg)	IL17RB (G177R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3109162	NM_018725.4(IL17RB):c.965C>T (p.Ser322Phe)	ACTR8, IL17RB (S322F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109161	NM_018725.4(IL17RB):c.788G>A (p.Arg263Gln)	IL17RB (R263Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109160	NM_018725.4(IL17RB):c.766A>G (p.Thr256Ala)	IL17RB (T256A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109159	NM_018725.4(IL17RB):c.710T>C (p.Ile237Thr)	IL17RB (I237T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109158	NM_018725.4(IL17RB):c.413C>A (p.Ala138Asp)	IL17RB (A138D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109157	NM_018725.4(IL17RB):c.266C>T (p.Thr89Met)	IL17RB (T89M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109156	NM_018725.4(IL17RB):c.236G>A (p.Arg79His)	IL17RB (R79H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109155	NM_018725.4(IL17RB):c.1344T>G (p.Phe448Leu)	ACTR8, IL17RB (F448L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062734	GRCh37/hg19 3p21.1(chr3:53532755-54395791)x3	ACTR8, CACNA1D +4 more	Copy number gain	not specified	GUncertain significance
Select item 3062724	GRCh37/hg19 3p21.1-14.3(chr3:53659716-54500525)x3	ACTR8, CACNA1D +4 more	Copy number gain	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 2609668	NM_018725.4(IL17RB):c.1160A>C (p.Lys387Thr)	ACTR8, IL17RB (K387T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609667	NM_018725.4(IL17RB):c.1159A>G (p.Lys387Glu)	ACTR8, IL17RB (K387E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603229	NM_018725.4(IL17RB):c.235C>T (p.Arg79Cys)	IL17RB (R79C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539513	NM_018725.4(IL17RB):c.173C>G (p.Ala58Gly)	IL17RB (A58G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521162	NM_018725.4(IL17RB):c.649A>G (p.Ile217Val)	IL17RB (I217V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479671	NM_018725.4(IL17RB):c.860C>T (p.Pro287Leu)	ACTR8, IL17RB (P287L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2469155	NM_018725.4(IL17RB):c.1198G>A (p.Val400Ile)	ACTR8, IL17RB (V400I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460237	NM_018725.4(IL17RB):c.64G>A (p.Val22Ile)	IL17RB (V22I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458549	NM_018725.4(IL17RB):c.1366G>A (p.Asp456Asn)	ACTR8, IL17RB (D456N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2409511	NM_018725.4(IL17RB):c.1127T>C (p.Met376Thr)	ACTR8, IL17RB (M376T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369261	NM_018725.4(IL17RB):c.1126A>G (p.Met376Val)	ACTR8, IL17RB (M376V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365456	NM_018725.4(IL17RB):c.1226G>A (p.Gly409Asp)	ACTR8, IL17RB (G409D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361891	NM_018725.4(IL17RB):c.394A>G (p.Thr132Ala)	IL17RB (T132A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346815	NM_018725.4(IL17RB):c.826G>A (p.Val276Ile)	IL17RB (V276I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299977	NM_018725.4(IL17RB):c.1414G>A (p.Ala472Thr)	ACTR8, IL17RB (A472T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237211	NM_018725.4(IL17RB):c.194T>C (p.Leu65Ser)	IL17RB (L65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213961	NM_018725.4(IL17RB):c.1213G>A (p.Asp405Asn)	ACTR8, IL17RB (D405N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1301751	NM_018725.4(IL17RB):c.146G>A (p.Arg49Gln)	IL17RB (R49Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 686776	GRCh37/hg19 3p21.1(chr3:53413246-53955646)x3	ACTR8, CACNA1D +3 more	Copy number gain	not provided	GUncertain significance
Select item 562769	GRCh37/hg19 3p21.1(chr3:53892719-54182466)x3	SELENOK, IL17RB +2 more	Copy number gain	not provided	GLikely benign
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 60057	GRCh38/hg38 3p21.1-14.3(chr3:53287477-57025368)x1	ACTR8, ARHGEF3 +53 more	Copy number loss	See cases	GUncertain significance
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 40