ClinVar for Gene (Select 57185) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358567	NM_020448.5(NIPAL3):c.1176C>T (p.Ala392=)	NIPAL3	Single nucleotide variant (synonymous variant +1 more)	NIPAL3-related disorder	GBenign
Select item 3299793	NM_020448.5(NIPAL3):c.136G>A (p.Val46Met)	NIPAL3 (V37M +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3299792	NM_020448.5(NIPAL3):c.182T>C (p.Leu61Pro)	NIPAL3 (L60P +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3299791	NM_020448.5(NIPAL3):c.538A>G (p.Met180Val)	NIPAL3 (M171V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299790	NM_020448.5(NIPAL3):c.887T>A (p.Ile296Asn)	NIPAL3 (I296N +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3200157	NM_020448.5(NIPAL3):c.802G>C (p.Asp268His)	NIPAL3 (D107H +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3200156	NM_020448.5(NIPAL3):c.709C>T (p.Leu237Phe)	NIPAL3 (L237F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200155	NM_020448.5(NIPAL3):c.629C>T (p.Ala210Val)	NIPAL3 (A128V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200153	NM_020448.5(NIPAL3):c.18C>A (p.Ser6Arg)	LOC126805662, NIPAL3 (S6R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3050797	NM_020448.5(NIPAL3):c.666C>T (p.Ala222=)	NIPAL3	Single nucleotide variant (synonymous variant +1 more)	NIPAL3-related disorder	GLikely benign
Select item 3050621	NM_020448.5(NIPAL3):c.1041T>C (p.Asp347=)	NIPAL3	Single nucleotide variant (synonymous variant +1 more)	NIPAL3-related disorder	GLikely benign
Select item 3049381	NM_020448.5(NIPAL3):c.-328C>T	NIPAL3 (P7L)	Single nucleotide variant (5 prime UTR variant +3 more)	NIPAL3-related disorder	GBenign
Select item 3048167	NM_020448.5(NIPAL3):c.90C>T (p.Tyr30=)	LOC126805662, NIPAL3	Single nucleotide variant (synonymous variant +3 more)	NIPAL3-related disorder	GBenign
Select item 3037941	NM_020448.5(NIPAL3):c.1022-4T>A	NIPAL3	Single nucleotide variant (intron variant)	NIPAL3-related disorder	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 disorder	GBenign
Select item 3033440	NM_020448.5(NIPAL3):c.1164C>T (p.Gly388=)	NIPAL3	Single nucleotide variant (synonymous variant +1 more)	NIPAL3-related disorder	GLikely benign
Select item 2685377	GRCh37/hg19 1p36.11(chr1:24680971-25029622)x1	GRHL3, NCMAP +4 more	Copy number loss	not provided	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
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 2635259	NM_020448.5(NIPAL3):c.1135A>G (p.Thr379Ala)	NIPAL3 (T218A +5 more)	Single nucleotide variant (missense variant +1 more)	NIPAL3-related disorder	GUncertain significance
Select item 2609886	NM_020448.5(NIPAL3):c.563G>A (p.Cys188Tyr)	NIPAL3 (C179Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2489648	NM_020448.5(NIPAL3):c.95A>C (p.Glu32Ala)	NIPAL3 (E23A +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2461339	NM_020448.5(NIPAL3):c.1186C>G (p.Pro396Ala)	NIPAL3 (P235A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2379821	NM_020448.5(NIPAL3):c.1054G>A (p.Val352Ile)	NIPAL3 (V343I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2364770	NM_020448.5(NIPAL3):c.691A>G (p.Ile231Val)	NIPAL3 (I149V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2269653	NM_020448.5(NIPAL3):c.490G>A (p.Gly164Ser)	NIPAL3 (G3S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GLikely benign
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 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 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	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 49