ClinVar for Gene (Select 219770) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281479	NM_153368.3(GJD4):c.1018G>A (p.Ala340Thr)	GJD4 (A340T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281478	NM_153368.3(GJD4):c.719G>C (p.Ser240Thr)	GJD4 (S240T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281477	NM_153368.3(GJD4):c.1105T>C (p.Trp369Arg)	GJD4 (W369R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281476	NM_153368.3(GJD4):c.448C>T (p.Arg150Trp)	GJD4 (R150W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281475	NM_153368.3(GJD4):c.607G>T (p.Ala203Ser)	GJD4 (A203S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281474	NM_153368.3(GJD4):c.245G>A (p.Gly82Asp)	GJD4 (G82D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100020	NM_153368.3(GJD4):c.980C>T (p.Ser327Phe)	GJD4 (S327F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100019	NM_153368.3(GJD4):c.838C>T (p.Arg280Cys)	GJD4 (R280C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100018	NM_153368.3(GJD4):c.749G>C (p.Arg250Pro)	GJD4 (R250P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3100017	NM_153368.3(GJD4):c.736G>C (p.Ala246Pro)	GJD4 (A246P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3100016	NM_153368.3(GJD4):c.698G>T (p.Ser233Ile)	GJD4 (S233I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100015	NM_153368.3(GJD4):c.661C>T (p.Arg221Trp)	GJD4 (R221W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100014	NM_153368.3(GJD4):c.544G>C (p.Gly182Arg)	GJD4 (G182R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100013	NM_153368.3(GJD4):c.391C>A (p.Arg131Ser)	GJD4 (R131S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100011	NM_153368.3(GJD4):c.305C>T (p.Thr102Met)	GJD4 (T102M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100010	NM_153368.3(GJD4):c.1070G>T (p.Ser357Ile)	GJD4 (S357I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685372	GRCh37/hg19 10p11.22-11.21(chr10:32617120-36913676)x1	CCDC7, CCNY +8 more	Copy number loss	not provided	GUncertain significance
Select item 2640407	NM_153368.3(GJD4):c.130G>A (p.Val44Ile)	GJD4 (V44I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2640406	NM_153368.3(GJD4):c.84C>A (p.Leu28=)	GJD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2614678	NM_153368.3(GJD4):c.232T>G (p.Trp78Gly)	GJD4 (W78G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2554293	NM_153368.3(GJD4):c.793C>T (p.Pro265Ser)	GJD4 (P265S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525516	NM_153368.3(GJD4):c.214G>T (p.Val72Leu)	GJD4 (V72L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524260	NM_153368.3(GJD4):c.671T>G (p.Met224Arg)	GJD4 (M224R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486231	NM_153368.3(GJD4):c.472G>C (p.Gly158Arg)	GJD4 (G158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464073	NM_153368.3(GJD4):c.734A>G (p.His245Arg)	GJD4 (H245R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464072	NM_153368.3(GJD4):c.733C>A (p.His245Asn)	GJD4 (H245N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462930	NM_153368.3(GJD4):c.83T>C (p.Leu28Pro)	GJD4 (L28P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459972	NM_153368.3(GJD4):c.1021C>G (p.Pro341Ala)	GJD4 (P341A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458109	NM_153368.3(GJD4):c.527C>G (p.Thr176Arg)	GJD4 (T176R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458108	NM_153368.3(GJD4):c.169C>G (p.Leu57Val)	GJD4 (L57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363173	NM_153368.3(GJD4):c.322C>T (p.Pro108Ser)	GJD4 (P108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320322	NM_153368.3(GJD4):c.356C>T (p.Ser119Phe)	GJD4 (S119F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313318	NM_153368.3(GJD4):c.128C>A (p.Pro43His)	GJD4 (P43H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312981	NM_153368.3(GJD4):c.644A>G (p.Asp215Gly)	GJD4 (D215G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304200	NM_153368.3(GJD4):c.683C>T (p.Pro228Leu)	GJD4 (P228L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302626	NM_153368.3(GJD4):c.800G>T (p.Gly267Val)	GJD4 (G267V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2277578	NM_153368.3(GJD4):c.959A>T (p.Gln320Leu)	GJD4 (Q320L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247411	NM_153368.3(GJD4):c.547G>A (p.Val183Met)	GJD4 (V183M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 980363	GRCh37/hg19 10p11.21(chr10:35734289-37038603)x3	GJD4, CCNY +1 more	Copy number gain	not provided	GUncertain significance
Select item 980362	GRCh37/hg19 10p11.21(chr10:35868495-36090314)x3	FZD8, GJD4	Copy number gain	not provided	GLikely benign
Select item 684909	GRCh37/hg19 10p11.21(chr10:34795319-36729226)x1	CREM, CUL2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 560084	Single allele	CCNY, CCNY-AS1 +65 more	Deletion	not provided	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442070	GRCh37/hg19 10p11.21(chr10:34613818-36003507)x3	CCNY, CREM +4 more	Copy number gain	See cases	GUncertain significance
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 394193	GRCh37/hg19 10p11.21(chr10:35895944-35929360)x3	FZD8, GJD4	Copy number gain	See cases	GLikely benign
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 221475	GRCh37/hg19 10p11.22-11.21(chr10:32323692-37520394)x3	CREM, CUL2 +10 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 146088	GRCh38/hg38 10p11.22-11.1(chr10:31999920-38119681)x3	ANKRD30A, CCDC7 +119 more	Copy number gain	See cases	GPathogenic
Select item 59701	GRCh38/hg38 10p11.21(chr10:34686264-35684215)x3	FZD8, CCNY +48 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 55