ClinVar for Gene (Select 2596) - ClinVar

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

Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3098308	NM_002045.4(GAP43):c.446A>G (p.Asp149Gly)	GAP43 (D149G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098306	NM_002045.4(GAP43):c.222T>C (p.Val74=)	GAP43	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3098305	NM_002045.4(GAP43):c.31-12204C>T	GAP43 (P11S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098304	NM_002045.4(GAP43):c.68A>G (p.Asp23Gly)	GAP43 (D23G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611743	NM_002045.4(GAP43):c.31-12146T>A	GAP43 (V30D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2498335	GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1	ABHD10, ATG3 +34 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2481695	NM_002045.4(GAP43):c.44A>T (p.Asp15Val)	GAP43 (D15V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404275	NM_002045.4(GAP43):c.184G>C (p.Ala62Pro)	GAP43 (A62P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394338	NM_002045.4(GAP43):c.406G>A (p.Gly136Ser)	GAP43 (G136S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319766	NM_002045.4(GAP43):c.392C>T (p.Ser131Leu)	GAP43 (S167L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290634	NM_002045.4(GAP43):c.31-12167G>A	GAP43 (R23K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266798	NM_002045.4(GAP43):c.478C>A (p.Pro160Thr)	GAP43 (P160T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243093	NM_002045.4(GAP43):c.605G>A (p.Ser202Asn)	GAP43 (S202N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809345	GRCh37/hg19 3q13.31(chr3:115364084-115667101)x3	GAP43, LSAMP	Copy number gain	not provided	GUncertain significance
Select item 1703653	GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696)	ABHD10, ATG3 +51 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 1527035	GRCh37/hg19 3q13.2-13.31(chr3:112144081-115514432)	ATG3, ATP6V1A +22 more	Copy number loss	not specified	GPathogenic
Select item 980050	GRCh37/hg19 3q13.2-13.31(chr3:112135341-115509260)x3	CD200R1L, CCDC191 +22 more	Copy number gain	not provided	GPathogenic
Select item 929399	GRCh37/hg19 3q13.2-13.32(chr3:113233952-118525556)x1	ATP6V1A, CCDC191 +13 more	Copy number loss	See cases	GPathogenic
Select item 784015	NM_002045.4(GAP43):c.31-12223C>T	GAP43	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 747086	NM_002045.4(GAP43):c.48C>T (p.Asp16=)	GAP43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 685232	GRCh37/hg19 3q13.31(chr3:113976794-115539266)x3	GAP43, LSAMP +2 more	Copy number gain	not provided	GUncertain significance
Select item 666447	GRCh37/hg19 3q13.2-13.31(chr3:112183943-115492949)x1	ATG3, ATP6V1A +22 more	Copy number loss	not provided	GPathogenic
Select item 562808	GRCh37/hg19 3q13.31(chr3:113976880-115536487)x3	ZBTB20, LSAMP +2 more	Copy number gain	not provided	GUncertain significance
Select item 562807	GRCh37/hg19 3q13.2-13.31(chr3:111894832-116930109)x1	ATP6V1A, TIGIT +25 more	Copy number loss	not provided	GPathogenic
Select item 503598	GRCh37/hg19 3q13.31(chr3:114926956-115380890)x3	GAP43	Copy number gain	See cases	GUncertain significance
Select item 443681	GRCh37/hg19 3q13.2-13.31(chr3:112590339-116461450)x1	ATP6V1A, BOC +18 more	Copy number loss	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 393800	GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1	ABHD10, ALCAM +53 more	Copy number loss	See cases	GPathogenic
Select item 253338	GRCh37/hg19 3q13.31(chr3:114260384-116691114)x1	LSAMP, GAP43 +1 more	Copy number loss	See cases	GLikely pathogenic
Select item 155607	GRCh38/hg38 3q13.31-13.32(chr3:114734452-118164045)x1	GAP43, LINC00901 +37 more	Copy number loss	See cases	GUncertain significance
Select item 154658	GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1	ADPRH, ARHGAP31 +190 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 154065	GRCh38/hg38 3q13.2-13.31(chr3:112425234-115795585)x1	ATG3, ATP6V1A +105 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	ADCY5, ADPRH +286 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	ABTB1, ADCY5 +570 more	Copy number loss	See cases	GPathogenic
Select item 149415	GRCh38/hg38 3q13.2-13.31(chr3:112465094-115774111)x1	ATG3, ATP6V1A +104 more	Copy number loss	See cases	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +397 more	Copy number loss	See cases	GPathogenic
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	ADPRH, ARGFX +199 more	Copy number loss	See cases	GPathogenic
Select item 146287	GRCh38/hg38 3q13.2-13.31(chr3:112465096-115774102)x1	ATG3, ATP6V1A +104 more	Copy number loss	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 144858	GRCh38/hg38 3q13.31(chr3:114298318-116366433)x1	GAP43, LOC108004532 +39 more	Copy number loss	See cases	GUncertain significance
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC129937263, LOC129937264 +247 more	Copy number gain	See cases	GPathogenic
Select item 57805	GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1	ATG3, ATP6V1A +104 more	Copy number loss	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +185 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 57131	GRCh38/hg38 3q13.2-13.31(chr3:112168829-117393356)x1	ATG3, ATP6V1A +126 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: 49