GJC1[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 145615	GRCh38/hg38 17q21.31(chr17:43934167-44854025)x1	ADAM11, ASB16 +86 more	Copy number loss	See cases	GPathogenic
Select item 1239515	NM_005497.4(GJC1):c.*326dup	GJC1	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 2681296	NM_005497.4(GJC1):c.1175C>T (p.Thr392Ile)	GJC1 (T392I)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2223760	NM_005497.4(GJC1):c.1050T>A (p.Asp350Glu)	GJC1 (D350E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099989	NM_005497.4(GJC1):c.1034C>T (p.Ala345Val)	GJC1 (A345V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1297339	NM_005497.4(GJC1):c.906C>T (p.Thr302=)	GJC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2411240	NM_005497.4(GJC1):c.865G>A (p.Gly289Ser)	GJC1 (G289S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325326	NM_005497.4(GJC1):c.745G>A (p.Glu249Lys)	GJC1 (E249K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380118	NM_005497.4(GJC1):c.350A>G (p.Tyr117Cys)	GJC1 (Y117C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708726	NM_005497.4(GJC1):c.213C>T (p.Leu71=)	GJC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2339607	NM_005497.4(GJC1):c.154G>C (p.Val52Leu)	GJC1 (V52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240027	NM_005497.4(GJC1):c.100G>A (p.Val34Ile)	GJC1 (V34I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606299	NM_005497.4(GJC1):c.79G>T (p.Val27Phe)	GJC1 (V27F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 442257	GRCh37/hg19 17q21.31(chr17:42649083-43659985)x3	ACBD4, ADAM11 +20 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 22