ClinVar for Gene (Select 4762) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299387	NM_006161.3(NEUROG1):c.149G>A (p.Arg50Lys)	LOC123497974, NEUROG1 (R50K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246504	NC_000005.9:g.(?_133533463)_(135398915_?)dup	SLC25A48, TGFBI +21 more	Duplication	not provided	GUncertain significance
Select item 3195493	NM_006161.3(NEUROG1):c.49A>G (p.Ser17Gly)	LOC123497974, NEUROG1 (S17G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195487	NM_006161.3(NEUROG1):c.484G>A (p.Glu162Lys)	NEUROG1 (E162K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195478	NM_006161.3(NEUROG1):c.44C>T (p.Ala15Val)	LOC123497974, NEUROG1 (A15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195474	NM_006161.3(NEUROG1):c.43G>T (p.Ala15Ser)	LOC123497974, NEUROG1 (A15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2575913	NM_006161.3(NEUROG1):c.202G>T (p.Glu68Ter)	NEUROG1 (E68*)	Single nucleotide variant (nonsense)	Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay	GPathogenic
Select item 2575912	NM_006161.3(NEUROG1):c.347G>T (p.Arg116Leu)	NEUROG1	Single nucleotide variant (missense variant)	Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay	GPathogenic
Select item 2560970	NM_006161.3(NEUROG1):c.188G>A (p.Gly63Glu)	NEUROG1 (G63E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547316	NM_006161.3(NEUROG1):c.131C>T (p.Pro44Leu)	LOC123497974, NEUROG1 (P44L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542959	NM_006161.3(NEUROG1):c.523G>C (p.Gly175Arg)	NEUROG1 (G175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520185	NM_006161.3(NEUROG1):c.548C>T (p.Ala183Val)	NEUROG1 (A183V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493325	NM_006161.3(NEUROG1):c.188G>T (p.Gly63Val)	NEUROG1 (G63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479259	NM_006161.3(NEUROG1):c.695G>A (p.Cys232Tyr)	NEUROG1 (C232Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385169	NM_006161.3(NEUROG1):c.115G>A (p.Ala39Thr)	LOC123497974, NEUROG1 (A39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267588	NM_006161.3(NEUROG1):c.208G>A (p.Glu70Lys)	NEUROG1 (E70K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256588	NM_006161.3(NEUROG1):c.481C>T (p.Arg161Trp)	NEUROG1 (R161W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224818	NM_006161.3(NEUROG1):c.548C>G (p.Ala183Gly)	NEUROG1 (A183G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809383	GRCh37/hg19 5q31.1(chr5:134524754-135283222)x3	CXCL14, DCANP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1527199	GRCh37/hg19 5q31.1(chr5:132829317-134983855)	C5orf15, C5orf24 +22 more	Copy number loss	not specified	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 1300181	NM_006161.3(NEUROG1):c.228_231dup (p.Thr78fs)	NEUROG1 (T78fs)	Duplication (frameshift variant)	See cases	GLikely pathogenic
Select item 738611	NM_006161.3(NEUROG1):c.141G>A (p.Pro47=)	LOC123497974, NEUROG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 721273	NM_006161.3(NEUROG1):c.548C>A (p.Ala183Glu)	NEUROG1 (A183E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 712449	NM_006161.3(NEUROG1):c.101G>A (p.Arg34Lys)	LOC123497974, NEUROG1 (R34K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFF4, C5orf46 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	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 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 39