ClinVar for Gene (Select 50802) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2651112	NC_000002.12:g.90160240G>A	IGK, IGKV1D-12	Single nucleotide variant	not provided	GLikely benign
Select item 2651111	NC_000002.12:g.90115175C>A	IGK, IGKV3D-15	Single nucleotide variant	not provided	GLikely benign
Select item 1707611	NC_000002.12:g.88857548G>A	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	NC_000002.12:g.88857435=	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	NC_000002.12:g.88857548=	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	NC_000002.12:g.88857435C>G	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 152542	GRCh38/hg38 2p11.2(chr2:89023889-91627653)x3	IGK, IGKV1-12 +41 more	Copy number gain	See cases	GBenign
Select item 152519	GRCh38/hg38 2p11.2(chr2:88941499-88959991)x1	IGK, IGKV1-5	Copy number loss	See cases	GBenign
Select item 151416	GRCh38/hg38 2p11.2(chr2:88988717-91627653)x3	IGK, IGKV1-12 +43 more	Copy number gain	See cases	GBenign
Select item 151405	GRCh38/hg38 2p11.2(chr2:89023889-90225016)x3	IGK, IGKV1-12 +38 more	Copy number gain	See cases	GBenign
Select item 151399	GRCh38/hg38 2p11.2(chr2:88944755-88959991)x1	IGK, IGKV1-5	Copy number loss	See cases	GBenign
Select item 150552	GRCh38/hg38 2p11.2(chr2:89264392-89918199)x1	IGK, IGKV1-33 +9 more	Copy number loss	See cases	GBenign
Select item 148476	GRCh38/hg38 2p11.2(chr2:87375475-90282666)x3	CYTOR, EIF2AK3 +101 more	Copy number gain	See cases	GUncertain significance
Select item 147165	GRCh38/hg38 2p11.2(chr2:89264392-89918199)x1	IGK, IGKV1-33 +9 more	Copy number loss	See cases	GBenign
Select item 147138	GRCh38/hg38 2p11.2(chr2:89264392-89918199)x1	IGK, IGKV1-33 +9 more	Copy number loss	See cases	GBenign
Select item 147100	GRCh38/hg38 2p11.2(chr2:89936685-90219425)x1	IGK, IGKV1D-12 +15 more	Copy number loss	See cases	GBenign
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 145781	GRCh38/hg38 2p11.2(chr2:88975768-91627653)x3	IGK, IGKV1-12 +44 more	Copy number gain	See cases	GBenign
Select item 145779	GRCh38/hg38 2p11.2(chr2:89200535-89228087)x3	IGK, IGKV1-27 +1 more	Copy number gain	See cases	GBenign
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 144822	GRCh38/hg38 2p11.2(chr2:89033009-90225016)x1	IGKV1-17, IGKV1-27 +37 more	Copy number loss	See cases	GBenign
Select item 29759	NC_000002.12:g.88857564A>C	IGK, IGKC (W173G)	Single nucleotide variant (missense variant)	Recurrent infections associated with rare immunoglobulin isotypes deficiency	GPathogenic
Select item 29758	NC_000002.12:g.88857564A>G	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

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Links from Gene

Items: 27