NIPAL1[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	APBB2, ATP10D +171 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
Select item 58027	GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3	LOC129992578, MIR8053 +81 more	Copy number gain	See cases	GPathogenic
Select item 149579	GRCh38/hg38 4p12-11(chr4:47383124-48851860)x3	ATP10D, CNGA1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 2526675	NM_207330.3(NIPAL1):c.59C>T (p.Ser20Phe)	NIPAL1 (S20F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480537	NM_207330.3(NIPAL1):c.105T>A (p.Asn35Lys)	NIPAL1 (N35K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560344	NM_207330.3(NIPAL1):c.127C>A (p.Pro43Thr)	NIPAL1 (P43T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519454	NM_207330.3(NIPAL1):c.174T>G (p.Ile58Met)	NIPAL1 (I58M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320752	NM_207330.3(NIPAL1):c.604A>T (p.Met202Leu)	NIPAL1 (M202L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404492	NM_207330.3(NIPAL1):c.784A>C (p.Lys262Gln)	NIPAL1 (K262Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552829	NM_207330.3(NIPAL1):c.926T>G (p.Ile309Ser)	NIPAL1 (I309S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216870	NM_207330.3(NIPAL1):c.992G>T (p.Gly331Val)	NIPAL1 (G331V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362623	NM_207330.3(NIPAL1):c.1001C>T (p.Ala334Val)	NIPAL1 (A334V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334569	NM_207330.3(NIPAL1):c.1013T>C (p.Ile338Thr)	NIPAL1 (I338T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 832548	NC_000004.12:g.(?_47936421)_(48030176_?)dup	CNGA1, NIPAL1	Duplication	not provided	GUncertain significance
Select item 814550	GRCh37/hg19 4p12(chr4:47913550-48036790)x1	NIPAL1, CNGA1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 694454	GRCh37/hg19 4p12-11(chr4:45868775-48273513)x3	COX7B2, GABRA2 +11 more	Copy number gain	Autism	GLikely pathogenic
Select item 688887	GRCh37/hg19 4p12-11(chr4:47951905-48323818)x3	CNGA1, NIPAL1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 686905	GRCh37/hg19 4p12(chr4:47923813-48053663)x3	CNGA1, NIPAL1	Copy number gain	not provided	GUncertain significance
Select item 686761	GRCh37/hg19 4p12(chr4:47923831-48053007)x3	CNGA1, NIPAL1	Copy number gain	not provided	GUncertain significance
Select item 685991	GRCh37/hg19 4p12(chr4:47923830-48067957)x3	CNGA1, NIPAL1	Copy number gain	not provided	GUncertain significance
Select item 562910	GRCh37/hg19 4p12(chr4:47828849-48182073)x1	TEC, NIPAL1 +4 more	Copy number loss	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 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

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Items: 35