ClinVar for Gene (Select 93643) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326217	NM_001350562.2(TJAP1):c.1576A>C (p.Ser526Arg)	TJAP1 (S526R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326216	NM_001350562.2(TJAP1):c.424T>G (p.Trp142Gly)	TJAP1 (W101G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326215	NM_001350562.2(TJAP1):c.119A>G (p.Glu40Gly)	TJAP1 (E40G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3326214	NM_001350562.2(TJAP1):c.1642C>G (p.Gln548Glu)	TJAP1 (Q497E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326213	NM_001350562.2(TJAP1):c.770C>G (p.Ala257Gly)	TJAP1 (A216G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326212	NM_001350562.2(TJAP1):c.1088T>C (p.Val363Ala)	TJAP1 (V322A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326211	NM_001350562.2(TJAP1):c.764C>A (p.Pro255His)	TJAP1 (P255H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326210	NM_001350562.2(TJAP1):c.601A>G (p.Met201Val)	TJAP1 (M160V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326209	NM_001350562.2(TJAP1):c.956C>T (p.Pro319Leu)	TJAP1 (P319L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326208	NM_001350562.2(TJAP1):c.184C>T (p.Arg62Cys)	TJAP1 (R21C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3234397	NM_001350562.2(TJAP1):c.1563A>C (p.Pro521=)	TJAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3177631	NM_001350562.2(TJAP1):c.962C>T (p.Pro321Leu)	TJAP1 (P270L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177630	NM_001350562.2(TJAP1):c.818A>T (p.Asp273Val)	TJAP1 (D263V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177629	NM_001350562.2(TJAP1):c.475A>G (p.Asn159Asp)	TJAP1 (N118D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177628	NM_001350562.2(TJAP1):c.434T>C (p.Val145Ala)	TJAP1 (V104A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177627	NM_001350562.2(TJAP1):c.1540C>A (p.His514Asn)	TJAP1 (H514N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177626	NM_001350562.2(TJAP1):c.1487G>A (p.Arg496His)	TJAP1 (R455H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177625	NM_001350562.2(TJAP1):c.1486C>T (p.Arg496Cys)	TJAP1 (R455C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177623	NM_001350562.2(TJAP1):c.1466C>T (p.Pro489Leu)	TJAP1 (P448L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177622	NM_001350562.2(TJAP1):c.1247G>A (p.Arg416Gln)	TJAP1 (R365Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177621	NM_001350562.2(TJAP1):c.1008G>T (p.Glu336Asp)	TJAP1 (E285D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GLikely benign
Select item 2602504	NM_001350562.2(TJAP1):c.253C>T (p.Arg85Cys)	TJAP1 (R85C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	ABCC10, BICRAL +43 more	Deletion	not provided	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 2398928	NM_001350562.2(TJAP1):c.1115C>T (p.Pro372Leu)	TJAP1 (P362L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2367051	NM_001350562.2(TJAP1):c.142G>A (p.Glu48Lys)	TJAP1 (E48K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2230267	NM_001350562.2(TJAP1):c.1112G>T (p.Arg371Leu)	TJAP1 (R330L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 1072088	NC_000006.11:g.(?_42928506)_(43737486_?)del	DNPH1, GNMT +27 more	Deletion	not provided	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 54