10576[HGNC] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 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 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 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
Select item 2303815	NM_002975.3(CLEC11A):c.31G>A (p.Val11Met)	CLEC11A (V11M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239720	NM_002975.3(CLEC11A):c.61G>A (p.Gly21Arg)	CLEC11A (G21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359954	NM_002975.3(CLEC11A):c.122G>A (p.Arg41Gln)	CLEC11A (R41Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592348	NM_002975.3(CLEC11A):c.194A>C (p.Asn65Thr)	CLEC11A (N65T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275703	NM_002975.3(CLEC11A):c.272C>A (p.Thr91Lys)	CLEC11A (T91K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298550	NM_002975.3(CLEC11A):c.289G>C (p.Gly97Arg)	CLEC11A (G97R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267642	NM_002975.3(CLEC11A):c.347C>G (p.Ala116Gly)	CLEC11A (A116G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145549	NM_002975.3(CLEC11A):c.357C>G (p.Asp119Glu)	CLEC11A (D119E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522113	NM_002975.3(CLEC11A):c.494G>T (p.Gly165Val)	CLEC11A (G165V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234581	NM_002975.3(CLEC11A):c.506G>A (p.Arg169His)	CLEC11A (R169H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287106	NM_002975.3(CLEC11A):c.520T>G (p.Leu174Val)	CLEC11A (L174V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267641	NM_002975.3(CLEC11A):c.555C>G (p.His185Gln)	CLEC11A (H185Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332936	NM_002975.3(CLEC11A):c.583G>A (p.Glu195Lys)	CLEC11A (E195K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145552	NM_002975.3(CLEC11A):c.629G>T (p.Ser210Ile)	CLEC11A (S210I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145551	NM_002975.3(CLEC11A):c.629G>A (p.Ser210Asn)	CLEC11A (S210N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374722	NM_002975.3(CLEC11A):c.635C>T (p.Ala212Val)	CLEC11A (A212V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340208	NM_002975.3(CLEC11A):c.788C>T (p.Ala263Val)	CLEC11A (A263V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455844	NM_002975.3(CLEC11A):c.817G>C (p.Gly273Arg)	CLEC11A (G273R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785833	NM_002975.3(CLEC11A):c.827_831dup (p.Ala278fs)	CLEC11A (A278fs)	Microsatellite (frameshift variant)	not provided	GLikely benign
Select item 2280478	NM_002975.3(CLEC11A):c.938G>A (p.Arg313Gln)	CLEC11A (R313Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145553	NM_002975.3(CLEC11A):c.961T>C (p.Phe321Leu)	CLEC11A (F321L)	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 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

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Items: 38