GJC3[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	UFSP1, VGF +299 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +229 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +309 more	Copy number loss	See cases	GPathogenic
Select item 146325	GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3	AP4M1, ARPC1A +124 more	Copy number gain	See cases	GLikely benign
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	CNPY4, COPS6 +227 more	Copy number loss	See cases	GPathogenic
Select item 154648	GRCh38/hg38 7q22.1(chr7:99880388-100288453)x3	AP4M1, AZGP1 +67 more	Copy number gain	See cases	GUncertain significance
Select item 35515	NM_181538.3(GJC3):c.807A>T (p.Glu269Asp)	GJC3 (E269D)	Single nucleotide variant (missense variant)	Variant of unknown significance	GUncertain significance
Select item 3055375	NM_181538.3(GJC3):c.800C>T (p.Ala267Val)	GJC3 (A267V)	Single nucleotide variant (missense variant)	GJC3-related condition	GBenign
Select item 2268413	NM_181538.3(GJC3):c.638T>C (p.Leu213Pro)	GJC3 (L213P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039436	NM_181538.3(GJC3):c.597C>A (p.Ser199Arg)	GJC3 (S199R)	Single nucleotide variant (missense variant)	GJC3-related condition	GLikely benign
Select item 3057270	NM_181538.3(GJC3):c.569T>A (p.Ile190Asn)	GJC3 (I190N)	Single nucleotide variant (missense variant)	GJC3-related condition	GLikely benign
Select item 2340219	NM_181538.3(GJC3):c.512G>A (p.Arg171Gln)	GJC3 (R171Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 778326	NM_181538.3(GJC3):c.490C>T (p.Pro164Ser)	GJC3 (P164S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2264429	NM_181538.3(GJC3):c.407C>T (p.Ala136Val)	GJC3 (A136V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 732650	NM_181538.3(GJC3):c.393C>T (p.Leu131=)	GJC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2304022	NM_181538.3(GJC3):c.265G>A (p.Ala89Thr)	GJC3 (A89T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3040130	NM_181538.3(GJC3):c.210C>G (p.Pro70=)	GJC3	Single nucleotide variant (synonymous variant)	GJC3-related condition	GLikely benign
Select item 2538765	NM_181538.3(GJC3):c.207C>A (p.His69Gln)	GJC3 (H69Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2594761	NM_181538.3(GJC3):c.73C>T (p.Leu25Phe)	GJC3 (L25F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3036184	NM_181538.3(GJC3):c.56C>A (p.Pro19His)	GJC3 (P19H)	Single nucleotide variant (missense variant)	GJC3-related condition	GLikely benign
Select item 2347208	NM_181538.3(GJC3):c.47G>A (p.Arg16His)	GJC3 (R16H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3052339	NM_181538.3(GJC3):c.13T>G (p.Phe5Val)	GJC3 (F5V)	Single nucleotide variant (missense variant)	GJC3-related condition	GLikely benign
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685256	GRCh37/hg19 7q22.1(chr7:99263437-100105272)x1	ZNF3, ZSCAN21 +32 more	Copy number loss	not provided	GUncertain significance
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	TRAPPC14, TRIM4 +79 more	Duplication	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	ACHE, ACTL6B +75 more	Deletion	not provided	GPathogenic
Select item 1340058	GRCh37/hg19 7q22.1(chr7:98755291-99886571)x3	AP4M1, ARPC1A +39 more	Copy number gain	not provided	GUncertain significance
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	not provided	GPathogenic
Select item 563269	GRCh37/hg19 7q22.1(chr7:99502970-99555023)x1	GJC3, TRIM4	Copy number loss	not provided	GUncertain significance
Select item 545583	GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1	ARPC1A, ARPC1B +65 more	Copy number loss	Split hand-foot malformation 1	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 43