11891[HGNC] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2373877	NM_003278.3(CLEC3B):c.32G>A (p.Cys11Tyr)	CLEC3B (C11Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210020	NM_003278.3(CLEC3B):c.64G>A (p.Glu22Lys)	CLEC3B (E22K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381901	NM_003278.3(CLEC3B):c.221G>A (p.Gly74Glu)	CLEC3B (G74E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252088	NM_003278.3(CLEC3B):c.369G>C (p.Gln123His)	CLEC3B (Q81H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145660	NM_003278.3(CLEC3B):c.373G>T (p.Val125Leu)	CLEC3B (V125L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145661	NM_003278.3(CLEC3B):c.388G>A (p.Glu130Lys)	CLEC3B (E130K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481551	NM_003278.3(CLEC3B):c.421G>A (p.Glu141Lys)	CLEC3B (E141K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292474	NM_003278.3(CLEC3B):c.457G>T (p.Ala153Ser)	CLEC3B (A111S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552882	NM_003278.3(CLEC3B):c.485C>T (p.Thr162Ile)	CLEC3B (T120I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1698394	NM_003278.3(CLEC3B):c.539C>A (p.Ala180Asp)	CLEC3B (A180D +1 more)	Single nucleotide variant (missense variant)	Macular dystrophy, retinal, 4	GPathogenic
Select item 3267686	NM_003278.3(CLEC3B):c.561G>C (p.Lys187Asn)	CLEC3B (K187N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535524	NM_003278.3(CLEC3B):c.604G>A (p.Val202Met)	CLEC3B (V160M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685915	GRCh37/hg19 3p21.31(chr3:44563378-45177006)x3	CDCP1, CLEC3B +12 more	Copy number gain	not provided	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 814439	GRCh37/hg19 3p21.31(chr3:44444902-45413927)x1	CDCP1, CLEC3B +16 more	Copy number loss	not provided	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
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 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic