GJD3[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 2228756	NM_152219.4(GJD3):c.823G>A (p.Glu275Lys)	GJD3, GJD3-AS1 +1 more (E275K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495239	NM_152219.4(GJD3):c.718C>T (p.Pro240Ser)	GJD3, GJD3-AS1 +1 more (P240S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397274	NM_152219.4(GJD3):c.701C>T (p.Ala234Val)	GJD3, GJD3-AS1 +1 more (A234V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249060	NM_152219.4(GJD3):c.685C>A (p.Arg229Ser)	GJD3, GJD3-AS1 +1 more (R229S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100008	NM_152219.4(GJD3):c.635T>C (p.Leu212Pro)	GJD3, GJD3-AS1 +1 more (L212P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2620777	NM_152219.4(GJD3):c.632A>G (p.His211Arg)	GJD3, GJD3-AS1 +1 more (H211R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3100007	NM_152219.4(GJD3):c.581A>G (p.Tyr194Cys)	GJD3, GJD3-AS1 (Y194C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3100006	NM_152219.4(GJD3):c.560A>C (p.Lys187Thr)	GJD3, GJD3-AS1 (K187T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2274113	NM_152219.4(GJD3):c.536G>T (p.Cys179Phe)	GJD3, GJD3-AS1 (C179F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594831	NM_152219.4(GJD3):c.491C>T (p.Pro164Leu)	GJD3, GJD3-AS1 (P164L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2376796	NM_152219.4(GJD3):c.439G>A (p.Glu147Lys)	GJD3, GJD3-AS1 (E147K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100004	NM_152219.4(GJD3):c.404G>A (p.Cys135Tyr)	GJD3, GJD3-AS1 (C135Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2278785	NM_152219.4(GJD3):c.391C>T (p.Arg131Cys)	GJD3, GJD3-AS1 (R131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372732	NM_152219.4(GJD3):c.289A>T (p.Met97Leu)	GJD3, GJD3-AS1 (M97L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287545	NM_152219.4(GJD3):c.266C>G (p.Pro89Arg)	GJD3, GJD3-AS1 (P89R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238555	NM_152219.4(GJD3):c.230T>C (p.Phe77Ser)	GJD3, GJD3-AS1 (F77S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473340	NM_152219.4(GJD3):c.221A>C (p.His74Pro)	GJD3, GJD3-AS1 (H74P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281668	NM_152219.4(GJD3):c.161G>C (p.Cys54Ser)	GJD3, GJD3-AS1 (C54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557334	NM_152219.4(GJD3):c.157G>C (p.Val53Leu)	GJD3, GJD3-AS1 (V53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332771	NM_152219.4(GJD3):c.97C>T (p.Arg33Cys)	GJD3, GJD3-AS1 (R33C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684849	GRCh37/hg19 17q21.1-21.2(chr17:38390996-38689619)x3	CDC6, GJD3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 27