ClinVar for Gene (Select 94030) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3291683	NM_001080457.2(LRRC4B):c.541G>C (p.Val181Leu)	LRRC4B (V181L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291682	NM_001080457.2(LRRC4B):c.1927G>T (p.Gly643Cys)	LRRC4B (G643C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291681	NM_001080457.2(LRRC4B):c.1519C>T (p.Arg507Trp)	LRRC4B (R507W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120792	NM_001080457.2(LRRC4B):c.64G>A (p.Gly22Arg)	LRRC4B (G22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120791	NM_001080457.2(LRRC4B):c.2035A>C (p.Ser679Arg)	LRRC4B (S679R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120788	NM_001080457.2(LRRC4B):c.1895T>C (p.Val632Ala)	LRRC4B (V632A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120787	NM_001080457.2(LRRC4B):c.175G>A (p.Val59Met)	LRRC4B (V59M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120786	NM_001080457.2(LRRC4B):c.164C>T (p.Thr55Ile)	LRRC4B (T55I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120785	NM_001080457.2(LRRC4B):c.1538C>A (p.Pro513Gln)	LRRC4B (P513Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120784	NM_001080457.2(LRRC4B):c.1439G>A (p.Gly480Asp)	LRRC4B (G480D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120783	NM_001080457.2(LRRC4B):c.142G>A (p.Gly48Arg)	LRRC4B (G48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120782	NM_001080457.2(LRRC4B):c.127G>A (p.Val43Met)	LRRC4B (V43M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120781	NM_001080457.2(LRRC4B):c.1274A>G (p.Asn425Ser)	LRRC4B (N425S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2650352	NM_001080457.2(LRRC4B):c.1368G>T (p.Val456=)	LRRC4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650351	NM_001080457.2(LRRC4B):c.1737C>T (p.Ile579=)	LRRC4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602378	NM_001080457.2(LRRC4B):c.638A>G (p.Asn213Ser)	LRRC4B (N213S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594116	NM_001080457.2(LRRC4B):c.109G>A (p.Gly37Ser)	LRRC4B (G37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589978	NM_001080457.2(LRRC4B):c.986C>T (p.Thr329Met)	LRRC4B (T329M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536329	NM_001080457.2(LRRC4B):c.1193C>T (p.Thr398Met)	LRRC4B (T398M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534256	NM_001080457.2(LRRC4B):c.1922G>C (p.Gly641Ala)	LRRC4B (G641A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534255	NM_001080457.2(LRRC4B):c.1918A>G (p.Ser640Gly)	LRRC4B (S640G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2517416	NM_001080457.2(LRRC4B):c.1204A>T (p.Thr402Ser)	LRRC4B (T402S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491713	NM_001080457.2(LRRC4B):c.1398C>A (p.Ser466Arg)	LRRC4B (S466R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489216	NM_001080457.2(LRRC4B):c.766C>T (p.Arg256Cys)	LRRC4B (R256C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474117	NM_001080457.2(LRRC4B):c.32C>A (p.Pro11Gln)	LRRC4B (P11Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472507	NM_001080457.2(LRRC4B):c.1618G>A (p.Ala540Thr)	LRRC4B (A540T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470160	NM_001080457.2(LRRC4B):c.1388G>A (p.Gly463Asp)	LRRC4B (G463D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357525	NM_001080457.2(LRRC4B):c.1523G>A (p.Gly508Glu)	LRRC4B (G508E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314267	NM_001080457.2(LRRC4B):c.1960G>A (p.Ala654Thr)	LRRC4B (A654T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307778	NM_001080457.2(LRRC4B):c.1175C>T (p.Thr392Ile)	LRRC4B (T392I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302494	NM_001080457.2(LRRC4B):c.1291A>G (p.Thr431Ala)	LRRC4B (T431A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301124	NM_001080457.2(LRRC4B):c.1111A>G (p.Thr371Ala)	LRRC4B (T371A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276690	NM_001080457.2(LRRC4B):c.1985A>G (p.His662Arg)	LRRC4B (H662R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234684	NM_001080457.2(LRRC4B):c.1912G>A (p.Val638Met)	LRRC4B (V638M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808756	GRCh37/hg19 19q13.33(chr19:50883114-51304591)x3	ACP4, ASPDH +13 more	Copy number gain	not provided	GUncertain significance
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816089	GRCh37/hg19 19q13.33-13.41(chr19:50469730-51916485)x3	ACP4, ASPDH +46 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 51