TJAP1[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC123620117, LOC123620118 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 2367051	NM_001350562.2(TJAP1):c.142G>A (p.Glu48Lys)	TJAP1 (E48K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592457	NM_001350562.2(TJAP1):c.161G>T (p.Arg54Leu)	TJAP1 (R13L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376301	NM_001350562.2(TJAP1):c.194C>T (p.Ala65Val)	TJAP1 (A24V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602504	NM_001350562.2(TJAP1):c.253C>T (p.Arg85Cys)	TJAP1 (R85C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2248521	NM_001350562.2(TJAP1):c.268A>G (p.Lys90Glu)	TJAP1 (K90E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486711	NM_001350562.2(TJAP1):c.347T>G (p.Leu116Arg)	TJAP1 (L116R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551810	NM_001350562.2(TJAP1):c.455T>C (p.Leu152Pro)	TJAP1 (L101P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467621	NM_001350562.2(TJAP1):c.569A>G (p.Lys190Arg)	TJAP1 (K190R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204737	NM_001350562.2(TJAP1):c.673G>C (p.Ala225Pro)	TJAP1 (A184P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465000	NM_001350562.2(TJAP1):c.757G>A (p.Gly253Arg)	TJAP1 (G202R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357154	NM_001350562.2(TJAP1):c.788A>T (p.His263Leu)	TJAP1 (H212L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274551	NM_001350562.2(TJAP1):c.851C>T (p.Thr284Ile)	TJAP1 (T233I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603476	NM_001350562.2(TJAP1):c.892A>G (p.Arg298Gly)	TJAP1 (R257G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2230267	NM_001350562.2(TJAP1):c.1112G>T (p.Arg371Leu)	TJAP1 (R330L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398928	NM_001350562.2(TJAP1):c.1115C>T (p.Pro372Leu)	TJAP1 (P362L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528940	NM_001350562.2(TJAP1):c.1204A>G (p.Ser402Gly)	TJAP1 (S392G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266031	NM_001350562.2(TJAP1):c.1382C>G (p.Ser461Cys)	TJAP1 (S461C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218115	NM_001350562.2(TJAP1):c.1471A>G (p.Ser491Gly)	TJAP1 (S481G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266032	NM_001350562.2(TJAP1):c.1521G>C (p.Glu507Asp)	TJAP1 (E456D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470768	NM_001350562.2(TJAP1):c.1589G>A (p.Arg530His)	TJAP1 (R530H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319328	NM_001350562.2(TJAP1):c.1643A>G (p.Gln548Arg)	TJAP1 (Q548R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229307	NM_001350562.2(TJAP1):c.1645G>T (p.Ala549Ser)	TJAP1 (A539S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	MRPS18A, PEX6 +43 more	Deletion	not provided	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	BYSL, ABCC10 +57 more	Duplication	PRPH2-Related Disorders	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 1072088	NC_000006.11:g.(?_42928506)_(43737486_?)del	KLHDC3, LRRC73 +27 more	Deletion	not provided	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic

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Items: 33