REG3G[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LINC01851, LINC01867 +2458 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +769 more	Copy number gain	See cases	GPathogenic
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 150241	GRCh38/hg38 2p12(chr2:78202871-79113257)x3	LOC101927967, LOC105374820 +3 more	Copy number gain	See cases	GLikely benign
Select item 2277481	NM_001008387.3(REG3G):c.37A>T (p.Met13Leu)	REG3G (M13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152882	NM_001008387.3(REG3G):c.44T>C (p.Leu15Pro)	REG3G (L15P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559891	NM_001008387.3(REG3G):c.90G>A (p.Gln30=)	REG3G	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3431985	NM_001008387.3(REG3G):c.157G>A (p.Ala53Thr)	REG3G (A53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323272	NM_001008387.3(REG3G):c.210G>T (p.Lys70Asn)	REG3G (K70N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317801	NM_001008387.3(REG3G):c.211C>T (p.Arg71Trp)	REG3G (R71W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243887	NM_001008387.3(REG3G):c.217T>A (p.Ser73Thr)	REG3G (S73T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376992	NM_001008387.3(REG3G):c.225A>C (p.Lys75Asn)	REG3G (K75N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 731690	NM_001008387.3(REG3G):c.240C>T (p.Leu80=)	REG3G	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3431984	NM_001008387.3(REG3G):c.241A>G (p.Ser81Gly)	REG3G (S81G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342200	NM_001008387.3(REG3G):c.259T>C (p.Phe87Leu)	REG3G (F87L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3431987	NM_001008387.3(REG3G):c.321T>A (p.His107Gln)	REG3G (H107Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383133	NM_001008387.3(REG3G):c.323A>T (p.Asp108Val)	REG3G (D108V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204291	NM_001008387.3(REG3G):c.325C>T (p.Pro109Ser)	REG3G (P109S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570368	NM_001008387.3(REG3G):c.338C>T (p.Ser113Phe)	REG3G (S67F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791859	NM_001008387.3(REG3G):c.350G>A (p.Gly117Glu)	REG3G (G71E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2491977	NM_001008387.3(REG3G):c.362A>G (p.Glu121Gly)	REG3G (E121G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557897	NM_001008387.3(REG3G):c.407A>C (p.Asn136Thr)	REG3G (N136T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3431986	NM_001008387.3(REG3G):c.520A>G (p.Lys174Glu)	REG3G (K174E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3392274	GRCh37/hg19 2p12(chr2:76163231-80782398)x1	CTNNA2, LRRTM1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ACMSD, ALLC +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 980973	GRCh37/hg19 2p12(chr2:76035305-81220405)x1	CTNNA2, LRRTM1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 980436	GRCh37/hg19 2p12(chr2:77977261-79488901)x1	REG3A, REG1B +2 more	Copy number loss	not provided	GUncertain significance
Select item 689090	GRCh37/hg19 2p12(chr2:78114851-82104559)x1	CTNNA2, LRRTM1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 687099	GRCh37/hg19 2p12(chr2:76157543-82375906)x1	CTNNA2, LRRTM1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 685879	GRCh37/hg19 2p12-11.2(chr2:77907114-87330965)x1	ATOH8, C2orf68 +41 more	Copy number loss	not provided	GPathogenic
Select item 685860	GRCh37/hg19 2p13.1-12(chr2:74972080-83043893)x1	CTNNA2, EVA1A +11 more	Copy number loss	not provided	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	CCDC85A, CCDC88A +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic
Select item 394050	GRCh37/hg19 2p12(chr2:79255310-79312949)x3	REG1B, REG3G	Copy number gain	See cases	GLikely benign
Select item 393714	GRCh37/hg19 2p12(chr2:79255310-79314529)x3	REG3G, REG1B	Copy number gain	See cases	GLikely benign

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Items: 40