4140[HGNC] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC132088858, LOC132088860 +248 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +186 more	Copy number loss	See cases	GPathogenic
Select item 57131	GRCh38/hg38 3q13.2-13.31(chr3:112168829-117393356)x1	LOC129937247, LOC129937248 +127 more	Copy number loss	See cases	GPathogenic
Select item 154065	GRCh38/hg38 3q13.2-13.31(chr3:112425234-115795585)x1	ATG3, ATP6V1A +106 more	Copy number loss	See cases	GPathogenic
Select item 149415	GRCh38/hg38 3q13.2-13.31(chr3:112465094-115774111)x1	GAP43, GRAMD1C +105 more	Copy number loss	See cases	GPathogenic
Select item 146287	GRCh38/hg38 3q13.2-13.31(chr3:112465096-115774102)x1	LOC129937275, LOC129937276 +105 more	Copy number loss	See cases	GLikely pathogenic
Select item 57805	GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1	ATG3, ATP6V1A +105 more	Copy number loss	See cases	GPathogenic
Select item 154658	GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1	ADPRH, ARHGAP31 +191 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	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 155607	GRCh38/hg38 3q13.31-13.32(chr3:114734452-118164045)x1	GAP43, LINC00901 +37 more	Copy number loss	See cases	GUncertain significance
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	LOC129937337, LOC129937338 +199 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 3098305	NM_002045.4(GAP43):c.31-12204C>T	GAP43 (P11S)	Single nucleotide variant (missense variant +1 more)	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 2611743	NM_002045.4(GAP43):c.31-12146T>A	GAP43 (V30D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 747086	NM_002045.4(GAP43):c.48C>T (p.Asp16=)	GAP43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 3098306	NM_002045.4(GAP43):c.222T>C (p.Val74=)	GAP43	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3280693	NM_002045.4(GAP43):c.251G>A (p.Gly84Asp)	GAP43 (G120D +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 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 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 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 3280692	NM_002045.4(GAP43):c.532G>T (p.Ala178Ser)	GAP43 (A178S +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 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 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 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	BOC, CCDC191 +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	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +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

ClinVar

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Items: 51