CCRL2[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 2315195	NM_003965.5(CCRL2):c.-13+181C>T	CCRL2 (R5C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264651	NM_003965.5(CCRL2):c.47T>C (p.Ile16Thr)	CCRL2 (I16T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264652	NM_003965.5(CCRL2):c.157G>A (p.Val53Ile)	CCRL2 (V53I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140112	NM_003965.5(CCRL2):c.158T>C (p.Val53Ala)	CCRL2 (V53A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313749	NM_003965.5(CCRL2):c.190G>A (p.Val64Ile)	CCRL2 (V64I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264653	NM_003965.5(CCRL2):c.212G>T (p.Arg71Leu)	CCRL2 (R71L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529417	NM_003965.5(CCRL2):c.304A>G (p.Met102Val)	CCRL2 (M114V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238973	NM_003965.5(CCRL2):c.316C>A (p.Leu106Ile)	CCRL2 (L118I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285755	NM_003965.5(CCRL2):c.320T>C (p.Ile107Thr)	CCRL2 (I119T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140113	NM_003965.5(CCRL2):c.431G>A (p.Arg144Lys)	CCRL2 (R144K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292153	NM_003965.5(CCRL2):c.506T>C (p.Val169Ala)	CCRL2 (V181A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140114	NM_003965.5(CCRL2):c.539A>C (p.Lys180Thr)	CCRL2 (K180T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549149	NM_003965.5(CCRL2):c.559C>T (p.Pro187Ser)	CCRL2 (P199S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242709	NM_003965.5(CCRL2):c.562T>A (p.Phe188Ile)	CCRL2 (F188I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264655	NM_003965.5(CCRL2):c.592C>A (p.His198Asn)	CCRL2 (H198N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140115	NM_003965.5(CCRL2):c.659A>G (p.Tyr220Cys)	CCRL2 (Y220C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140116	NM_003965.5(CCRL2):c.715C>G (p.Leu239Val)	CCRL2 (L239V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607822	NM_003965.5(CCRL2):c.736G>A (p.Val246Ile)	CCRL2 (V246I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264654	NM_003965.5(CCRL2):c.766A>G (p.Ile256Val)	CCRL2 (I256V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229850	NM_003965.5(CCRL2):c.829A>T (p.Asn277Tyr)	CCRL2 (N289Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140117	NM_003965.5(CCRL2):c.872C>T (p.Thr291Ile)	CCRL2 (T291I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367756	NM_003965.5(CCRL2):c.902C>T (p.Ala301Val)	CCRL2 (A301V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2409321	NM_003965.5(CCRL2):c.1016A>G (p.Asp339Gly)	CCRL2 (D339G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711365	NM_003965.5(CCRL2):c.1034A>C (p.Ter345Ser)	CCRL2	Single nucleotide variant (stop lost)	not provided	GBenign
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	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 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 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

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Items: 31