NEURL1B[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	ADAM19, ADAMTS2 +863 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 2605923	NM_001142651.3(NEURL1B):c.71G>A (p.Cys24Tyr)	NEURL1B (C24Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397319	NM_001142651.3(NEURL1B):c.82G>A (p.Gly28Ser)	NEURL1B (G28S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229339	NM_001142651.3(NEURL1B):c.89A>C (p.Glu30Ala)	NEURL1B (E30A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484064	NM_001142651.3(NEURL1B):c.92G>C (p.Arg31Pro)	NEURL1B (R31P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231574	NM_001142651.3(NEURL1B):c.98C>T (p.Pro33Leu)	NEURL1B (P33L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321656	NM_001142651.3(NEURL1B):c.242A>G (p.Gln81Arg)	NEURL1B (Q81R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514926	NM_001142651.3(NEURL1B):c.307G>A (p.Ala103Thr)	NEURL1B (A103T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624096	NM_001142651.3(NEURL1B):c.481G>T (p.Gly161Cys)	NEURL1B (G161C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 985385	NM_001142651.3(NEURL1B):c.488C>T (p.Pro163Leu)	NEURL1B (P163L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315066	NM_001142651.3(NEURL1B):c.502T>A (p.Cys168Ser)	NEURL1B (C168S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222466	NM_001142651.3(NEURL1B):c.508G>T (p.Val170Leu)	NEURL1B (V170L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623350	NM_001142651.3(NEURL1B):c.524C>T (p.Pro175Leu)	NEURL1B (P175L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 985384	NM_001142651.3(NEURL1B):c.548A>G (p.Tyr183Cys)	NEURL1B (Y183C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380795	NM_001142651.3(NEURL1B):c.586T>G (p.Phe196Val)	NEURL1B (F14V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304697	NM_001142651.3(NEURL1B):c.595A>G (p.Thr199Ala)	NEURL1B (T17A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613701	NM_001142651.3(NEURL1B):c.602C>T (p.Thr201Met)	NEURL1B (T201M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352398	NM_001142651.3(NEURL1B):c.653G>C (p.Ser218Thr)	NEURL1B (S218T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232757	NM_001142651.3(NEURL1B):c.751C>T (p.Pro251Ser)	NEURL1B (P69S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229979	NM_001142651.3(NEURL1B):c.758A>C (p.Asp253Ala)	NEURL1B (D253A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324382	NM_001142651.3(NEURL1B):c.772G>T (p.Ala258Ser)	NEURL1B (A258S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356094	NM_001142651.3(NEURL1B):c.779C>G (p.Pro260Arg)	NEURL1B (P78R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194963	NM_001142651.3(NEURL1B):c.818C>T (p.Pro273Leu)	NEURL1B (P91L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194969	NM_001142651.3(NEURL1B):c.831G>C (p.Glu277Asp)	NEURL1B (E95D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482285	NM_001142651.3(NEURL1B):c.865G>C (p.Asp289His)	NEURL1B (D289H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399335	NM_001142651.3(NEURL1B):c.892G>C (p.Val298Leu)	NEURL1B (V298L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609359	NM_001142651.3(NEURL1B):c.899G>A (p.Cys300Tyr)	NEURL1B (C118Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194868	NM_001142651.3(NEURL1B):c.1003C>T (p.Pro335Ser)	NEURL1B (P153S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380172	NM_001142651.3(NEURL1B):c.1007G>A (p.Gly336Asp)	NEURL1B (G154D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468184	NM_001142651.3(NEURL1B):c.1072G>C (p.Asp358His)	NEURL1B (D358H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194878	NM_001142651.3(NEURL1B):c.1153A>C (p.Ser385Arg)	NEURL1B (S203R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552209	NM_001142651.3(NEURL1B):c.1162C>G (p.Leu388Val)	NEURL1B (L206V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534327	NM_001142651.3(NEURL1B):c.1192A>G (p.Ile398Val)	NEURL1B (I216V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3194889	NM_001142651.3(NEURL1B):c.1226T>C (p.Val409Ala)	NEURL1B (V409A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194892	NM_001142651.3(NEURL1B):c.1288C>T (p.Arg430Cys)	NEURL1B (R248C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322504	NM_001142651.3(NEURL1B):c.1289G>A (p.Arg430His)	NEURL1B (R430H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295404	NM_001142651.3(NEURL1B):c.1369T>C (p.Ser457Pro)	NEURL1B (S217P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269034	NM_001142651.3(NEURL1B):c.1376T>C (p.Met459Thr)	NEURL1B (M219T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547380	NM_001142651.3(NEURL1B):c.1387G>A (p.Val463Ile)	NEURL1B (V223I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491220	NM_001142651.3(NEURL1B):c.1403C>T (p.Ser468Leu)	NEURL1B (S468L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194910	NM_001142651.3(NEURL1B):c.1454C>T (p.Pro485Leu)	NEURL1B (P245L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241286	NM_001142651.3(NEURL1B):c.1490G>A (p.Gly497Asp)	NEURL1B (G497D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513099	NM_001142651.3(NEURL1B):c.1550C>T (p.Thr517Met)	NEURL1B (T277M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597235	NM_001142651.3(NEURL1B):c.1631G>A (p.Arg544Gln)	NEURL1B (R362Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685184	GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1	ARL10, ATP6V0E1 +37 more	Copy number loss	not provided	GPathogenic
Select item 2425102	NC_000005.9:g.(?_172089144)_(172774583_?)del	ERGIC1, NEURL1B +8 more	Deletion	Atrial septal defect 7	GPathogenic
Select item 2423474	NC_000005.9:g.(?_171765373)_(172939426_?)dup	ATP6V0E1, BNIP1 +9 more	Duplication	not provided	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1527205	GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)	ATP6V0E1, BNIP1 +35 more	Copy number loss	not specified	GPathogenic
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 692223	GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1	SPDL1, TENM2 +37 more	Copy number loss	Atrial septal defect 7	GPathogenic
Select item 684725	NC_000005.9:g.172068277_172342131dup	DUSP1, ERGIC1 +1 more	Duplication	Congenital hydrocephalus	GUncertain significance
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394600	GRCh37/hg19 5q35.1(chr5:172085912-172116412)x3	NEURL1B	Copy number gain	See cases	GBenign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 221448	GRCh37/hg19 5q35.1(chr5:172097061-172421802)x3	ATP6V0E1, DUSP1 +3 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 65