ZNF138[gene] - ClinVar

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Items: 36

	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 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +228 more	Copy number gain	See cases	GPathogenic
Select item 57078	GRCh38/hg38 7q11.21-11.22(chr7:62570287-67823956)x3	ASL, CICP24 +113 more	Copy number gain	See cases	GPathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	LOC129998532, LOC129998533 +350 more	Copy number loss	See cases	GPathogenic
Select item 155382	GRCh38/hg38 7q11.21(chr7:62977012-66848675)	ASL, CICP24 +90 more	Copy number gain	See cases	GLikely pathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	LOC129998632, LOC129998633 +349 more	Copy number gain	See cases	GPathogenic
Select item 57022	GRCh38/hg38 7q11.21-11.22(chr7:64657050-72243063)x1	ASL, AUTS2 +157 more	Copy number loss	See cases	GPathogenic
Select item 152092	GRCh38/hg38 7q11.21(chr7:64813121-64939543)x3	LOC116183090, ZNF138 +1 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 2390686	NM_001271639.2(ZNF138):c.8C>A (p.Pro3Gln)	ZNF138 (P3Q)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2411850	NM_001271639.2(ZNF138):c.76C>T (p.Arg26Trp)	ZNF138 (R26W +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2517144	NM_001271639.2(ZNF138):c.77G>A (p.Arg26Gln)	ZNF138 (R20Q +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2556911	NM_001271639.2(ZNF138):c.105G>C (p.Glu35Asp)	ZNF138 (E29D +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2250902	NM_001271639.2(ZNF138):c.115A>G (p.Asn39Asp)	ZNF138 (N33D +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2361708	NM_001271639.2(ZNF138):c.209C>T (p.Ala70Val)	ZNF138 (A38V +8 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2590932	NM_001271639.2(ZNF138):c.234C>T (p.Asp78=)	ZNF138 (T118I +4 more)	Single nucleotide variant (missense variant +4 more)	Inborn genetic diseases	GLikely benign
Select item 2348068	NM_001271639.2(ZNF138):c.274G>A (p.Val92Met)	ZNF138 (V60M +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2267090	NM_001271639.2(ZNF138):c.328G>A (p.Gly110Ser)	ZNF138 (G78S +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2457135	NM_001271639.2(ZNF138):c.354G>C (p.Lys118Asn)	ZNF138 (K118N +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2205210	NM_001271639.2(ZNF138):c.529T>C (p.Cys177Arg)	ZNF138 (C177R +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2364640	NM_001271639.2(ZNF138):c.594A>T (p.Glu198Asp)	ZNF138 (E172D +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2313867	NM_001271639.2(ZNF138):c.709A>G (p.Ile237Val)	ZNF138 (I205V +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2367108	NM_001271639.2(ZNF138):c.727A>G (p.Ile243Val)	ZNF138 (I217V +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2557693	NM_001271639.2(ZNF138):c.757T>G (p.Cys253Gly)	ZNF138 (C196G +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2335800	NM_001271639.2(ZNF138):c.832C>T (p.Pro278Ser)	ZNF138 (P246S +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	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 1340473	GRCh37/hg19 7q11.21(chr7:64052765-64651336)x1	ERV3-1, ZNF107 +3 more	Copy number loss	not provided	GUncertain significance
Select item 983155	GRCh37/hg19 7q11.21(chr7:62495083-64927758)x1	ERV3-1, ZNF107 +9 more	Copy number loss	See cases	GUncertain significance
Select item 980823	GRCh37/hg19 7q11.21(chr7:62508852-64940346)x1	ERV3-1, ZNF107 +9 more	Copy number loss	not provided	GUncertain significance
Select item 687667	GRCh37/hg19 7q11.21(chr7:63903253-64426719)x4	ZNF107, ZNF138 +2 more	Copy number gain	not provided	GUncertain significance
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 443521	GRCh37/hg19 7q11.21-11.22(chr7:63583563-71047246)x1	ASL, AUTS2 +20 more	Copy number loss	See cases	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: 36