REG3A[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 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 155576	GRCh38/hg38 2p12(chr2:79119966-80133374)x3	CTNNA2, CTNNA2-AS1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 728936	NM_002580.3(REG3A):c.507T>C (p.Tyr169=)	REG3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783978	NM_002580.3(REG3A):c.450G>A (p.Ser150=)	REG3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3152881	NM_002580.3(REG3A):c.443G>A (p.Ser148Asn)	REG3A (S148N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152880	NM_002580.3(REG3A):c.440C>T (p.Ala147Val)	REG3A (A147V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617837	NM_002580.3(REG3A):c.374G>C (p.Ser125Thr)	REG3A (S125T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2600742	NM_002580.3(REG3A):c.354A>T (p.Glu118Asp)	REG3A (E118D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152879	NM_002580.3(REG3A):c.325C>T (p.Pro109Ser)	REG3A (P109S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232920	NM_002580.3(REG3A):c.304G>A (p.Val102Ile)	REG3A (V102I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 769260	NM_002580.3(REG3A):c.186A>G (p.Thr62=)	REG3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2488715	NM_002580.3(REG3A):c.143G>T (p.Gly48Val)	REG3A (G48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791860	NM_002580.3(REG3A):c.69G>A (p.Gln23=)	REG3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 747179	NM_002580.3(REG3A):c.31T>A (p.Ser11Thr)	REG3A (S11T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 723766	NM_002580.3(REG3A):c.6G>T (p.Leu2=)	REG3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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)	ABCA12, ABCB11 +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 562530	GRCh37/hg19 2p12(chr2:79375872-79534037)x1	REG3A	Copy number loss	not provided	GUncertain significance
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)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +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

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Items: 32