NIPAL3[gene] - ClinVar

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

Search results

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
Select item 3049381	NM_020448.5(NIPAL3):c.-328C>T	NIPAL3 (P7L)	Single nucleotide variant (5 prime UTR variant +3 more)	NIPAL3-related condition	GBenign
Select item 3033822	NM_020448.5(NIPAL3):c.19G>A (p.Ala7Thr)	LOC126805662, NIPAL3 (A7T)	Single nucleotide variant (missense variant +3 more)	NIPAL3-related condition	GBenign
Select item 3048167	NM_020448.5(NIPAL3):c.90C>T (p.Tyr30=)	LOC126805662, NIPAL3	Single nucleotide variant (synonymous variant +3 more)	NIPAL3-related condition	GBenign
Select item 2489648	NM_020448.5(NIPAL3):c.95A>C (p.Glu32Ala)	NIPAL3 (E23A +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2471650	NM_020448.5(NIPAL3):c.178C>T (p.Arg60Cys)	NIPAL3 (R59C +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 983003	NM_020448.5(NIPAL3):c.205G>A (p.Ala69Thr)	NIPAL3 (A60T +2 more)	Single nucleotide variant (missense variant +3 more)	Neurodevelopmental disorder	GUncertain significance
Select item 2376227	NM_020448.5(NIPAL3):c.221A>G (p.Lys74Arg)	NIPAL3 (K65R +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2555606	NM_020448.5(NIPAL3):c.268G>A (p.Val90Met)	NIPAL3 (V8M +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2359344	NM_020448.5(NIPAL3):c.283G>A (p.Ala95Thr)	NIPAL3 (A94T +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2550290	NM_020448.5(NIPAL3):c.329T>A (p.Val110Glu)	NIPAL3 (V110E +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2252153	NM_020448.5(NIPAL3):c.380C>T (p.Pro127Leu)	NIPAL3 (P118L +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2638495	NM_020448.5(NIPAL3):c.381G>A (p.Pro127=)	NIPAL3	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2269653	NM_020448.5(NIPAL3):c.490G>A (p.Gly164Ser)	NIPAL3 (G3S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483737	NM_020448.5(NIPAL3):c.523C>T (p.Pro175Ser)	NIPAL3 (P14S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213903	NM_020448.5(NIPAL3):c.553A>G (p.Ile185Val)	NIPAL3 (I176V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2609886	NM_020448.5(NIPAL3):c.563G>A (p.Cys188Tyr)	NIPAL3 (C179Y +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3050797	NM_020448.5(NIPAL3):c.666C>T (p.Ala222=)	NIPAL3	Single nucleotide variant (synonymous variant +1 more)	NIPAL3-related condition	GLikely benign
Select item 2364770	NM_020448.5(NIPAL3):c.691A>G (p.Ile231Val)	NIPAL3 (I149V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410895	NM_020448.5(NIPAL3):c.702C>G (p.Asn234Lys)	NIPAL3 (N73K +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606439	NM_020448.5(NIPAL3):c.742T>C (p.Cys248Arg)	NIPAL3 (C166R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598370	NM_020448.5(NIPAL3):c.871T>G (p.Phe291Val)	NIPAL3 (F290V +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2349995	NM_020448.5(NIPAL3):c.889G>A (p.Gly297Arg)	NIPAL3 (G136R +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2358774	NM_020448.5(NIPAL3):c.913A>T (p.Met305Leu)	NIPAL3 (M296L +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3037941	NM_020448.5(NIPAL3):c.1022-4T>A	NIPAL3	Single nucleotide variant (intron variant)	NIPAL3-related condition	GBenign
Select item 3050621	NM_020448.5(NIPAL3):c.1041T>C (p.Asp347=)	NIPAL3	Single nucleotide variant (synonymous variant +1 more)	NIPAL3-related condition	GLikely benign
Select item 2379821	NM_020448.5(NIPAL3):c.1054G>A (p.Val352Ile)	NIPAL3 (V343I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242337	NM_020448.5(NIPAL3):c.1058A>G (p.Gln353Arg)	NIPAL3 (Q344R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2635259	NM_020448.5(NIPAL3):c.1135A>G (p.Thr379Ala)	NIPAL3 (T218A +5 more)	Single nucleotide variant (missense variant +1 more)	NIPAL3-related condition	GUncertain significance
Select item 3033440	NM_020448.5(NIPAL3):c.1164C>T (p.Gly388=)	NIPAL3	Single nucleotide variant (synonymous variant +1 more)	NIPAL3-related condition	GLikely benign
Select item 2461339	NM_020448.5(NIPAL3):c.1186C>G (p.Pro396Ala)	NIPAL3 (P235A +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2214992	NM_020448.5(NIPAL3):c.1190A>G (p.Tyr397Cys)	NIPAL3 (Y236C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2685377	GRCh37/hg19 1p36.11(chr1:24680971-25029622)x1	GRHL3, NCMAP +4 more	Copy number loss	not provided	GUncertain significance
Select item 1808979	GRCh37/hg19 1p36.11(chr1:24363507-24875537)x3	GRHL3, IFNLR1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1706483	GRCh37/hg19 1p36.11(chr1:24531639-24749706)x1	GRHL3, NIPAL3 +1 more	Copy number loss	See cases	GPathogenic
Select item 929347	GRCh37/hg19 1p36.11(chr1:24394811-25148686)x3	CLIC4, GRHL3 +8 more	Copy number gain	See cases	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	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

Search results

Items: 40