ClinVar for Gene (Select 132789) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 2619650	NM_138335.3(GNPDA2):c.469A>G (p.Thr157Ala)	GNPDA2 (T87A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608781	NM_138335.3(GNPDA2):c.620A>C (p.His207Pro)	GNPDA2 (H137P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605801	NM_138335.3(GNPDA2):c.178C>T (p.His60Tyr)	GNPDA2 (H60Y)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2602341	NM_138335.3(GNPDA2):c.475T>A (p.Leu159Ile)	GNPDA2 (L159I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2542007	NM_138335.3(GNPDA2):c.803C>T (p.Pro268Leu)	GNPDA2 (P268L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485529	NM_138335.3(GNPDA2):c.235A>G (p.Arg79Gly)	GNPDA2 (R45G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328559	NM_138335.3(GNPDA2):c.700C>T (p.Arg234Trp)	GNPDA2 (R164W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1527084	GRCh37/hg19 4p12(chr4:44704375-44818450)	GNPDA2	Copy number loss	not specified	GUncertain significance
Select item 980662	GRCh37/hg19 4p12(chr4:44725333-45228574)x1	GNPDA2	Copy number loss	not provided	GUncertain significance
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 814547	GRCh37/hg19 4p12(chr4:44669198-44770906)x1	GUF1, GNPDA2	Copy number loss	not provided	GLikely benign
Select item 814546	GRCh37/hg19 4p13-12(chr4:42626603-45438191)x1	YIPF7, GRXCR1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 782992	NM_138335.3(GNPDA2):c.96C>T (p.Asp32=)	GNPDA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 764907	NM_138335.3(GNPDA2):c.324C>T (p.Asp108=)	GNPDA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 562908	GRCh37/hg19 4p13-12(chr4:42193789-47001790)x3	COX7B2, GABRG1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	AASDH, ABLIM2 +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441660	GRCh37/hg19 4p12(chr4:44637850-46618566)x1	GABRA2, GABRG1 +3 more	Copy number loss	See cases	GUncertain significance
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic
Select item 149748	GRCh38/hg38 4p12(chr4:44703597-44970949)x1	GNPDA2, LOC123477735 +2 more	Copy number loss	See cases	GLikely benign
Select item 148977	GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3	APBB2, ATP8A1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	ABLIM2, ACOX3 +1209 more	Copy number gain	See cases	GPathogenic
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	APBB2, ATP10D +171 more	Copy number gain	See cases	GPathogenic
Select item 58027	GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3	LOC129992578, MIR8053 +81 more	Copy number gain	See cases	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 34