ClinVar for Gene (Select 3514) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1707611	NG_000834.1:g.484152C>T	IGK, IGKC (A178V)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1707610	NG_000834.1:g.484265=	IGK, IGKC	Variation (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1707609	NG_000834.1:g.484152=	IGK, IGKC	Variation (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1707608	NG_000834.1:g.484265G>C	IGK, IGKC (V216L)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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 1176758	GRCh37/hg19 2p11.2(chr2:88007281-90260248)x1	IGKC, KRCC1 +8 more	Copy number loss	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 148476	GRCh38/hg38 2p11.2(chr2:87375475-90282666)x3	CYTOR, EIF2AK3 +101 more	Copy number gain	See cases	GUncertain significance
Select item 146363	GRCh38/hg38 2p11.2-11.1(chr2:87098178-91884275)x3	LOC122787150, LOC122787151 +104 more	Copy number gain	See cases	GUncertain significance
Select item 145759	GRCh38/hg38 2p11.2(chr2:88838079-89030495)x0	IGK, IGKC +14 more	Copy number loss	See cases	GBenign
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 29759	NG_000834.1:g.484136T>G	IGK, IGKC (W173G)	Single nucleotide variant (missense variant)	Recurrent infections associated with rare immunoglobulin isotypes deficiency	GPathogenic
Select item 29758	NG_000834.1:g.484136T>C	IGK, IGKC (W173R)	Single nucleotide variant (missense variant)	Recurrent infections associated with rare immunoglobulin isotypes deficiency	GPathogenic
Select item 14806	NM_001040075.1:c.[533C=;646G=]	IGK, IGKC	Variation (synonymous variant)	IMMUNOGLOBULIN KAPPA LIGHT CHAIN POLYMORPHISM Inv3	GBenign
Select item 14805	NM_001040075.1:c.[533C=;646G>C]	IGK, IGKC (V216L)	Single nucleotide variant (missense variant +1 more)	IMMUNOGLOBULIN KAPPA LIGHT CHAIN POLYMORPHISM Inv2	GBenign
Select item 14804	NM_001040075.1:c.[533C>T;646G>C]	IGK, IGKC (V216L +1 more)	Single nucleotide variant (missense variant)	IMMUNOGLOBULIN KAPPA LIGHT CHAIN POLYMORPHISM Inv1	GBenign