NEUROG2[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 2500791	NC_000004.12:g.110650730_112833790del	ALPK1, ANK2 +55 more	Deletion	Axenfeld-Rieger syndrome type 1	GLikely pathogenic
Select item 267201	NC_000004.10:g.111994000_115504000del3510001	LOC129992997, LOC129992998 +77 more	Deletion	Congenital aniridia	GPathogenic
Select item 145621	GRCh38/hg38 4q25-26(chr4:111069785-116691879)x1	ALPK1, ANK2 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 2399924	NM_024019.4(NEUROG2):c.806G>C (p.Arg269Thr)	NEUROG2 (R269T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231461	NM_024019.4(NEUROG2):c.788C>T (p.Pro263Leu)	NEUROG2 (P263L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195541	NM_024019.4(NEUROG2):c.704G>A (p.Ser235Asn)	NEUROG2 (S235N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612225	NM_024019.4(NEUROG2):c.602T>C (p.Leu201Pro)	LOC129992983, NEUROG2 (L201P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511143	NM_024019.4(NEUROG2):c.599C>T (p.Ala200Val)	LOC129992983, NEUROG2 (A200V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277537	NM_024019.4(NEUROG2):c.589G>C (p.Ala197Pro)	LOC129992983, NEUROG2 (A197P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337886	NM_024019.4(NEUROG2):c.584G>C (p.Gly195Ala)	LOC129992983, NEUROG2 (G195A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477271	NM_024019.4(NEUROG2):c.530G>A (p.Gly177Asp)	LOC129992983, NEUROG2 (G177D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232188	NM_024019.4(NEUROG2):c.425T>A (p.Phe142Tyr)	NEUROG2 (F142Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252368	NM_024019.4(NEUROG2):c.378C>A (p.His126Gln)	NEUROG2 (H126Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247203	NM_024019.4(NEUROG2):c.335C>A (p.Thr112Asn)	NEUROG2 (T112N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291792	NM_024019.4(NEUROG2):c.326T>A (p.Ile109Asn)	NEUROG2 (I109N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523890	NM_024019.4(NEUROG2):c.284C>T (p.Ala95Val)	NEUROG2 (A95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195520	NM_024019.4(NEUROG2):c.212C>T (p.Ala71Val)	NEUROG2 (A71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195516	NM_024019.4(NEUROG2):c.158G>C (p.Arg53Pro)	LOC129992984, NEUROG2 (R53P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3195514	NM_024019.4(NEUROG2):c.134C>T (p.Pro45Leu)	NEUROG2 (P45L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3195512	NM_024019.4(NEUROG2):c.113A>G (p.Asp38Gly)	NEUROG2 (D38G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195547	NM_024019.4(NEUROG2):c.95C>G (p.Pro32Arg)	NEUROG2, NEUROG2-AS1 (P32R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 1703609	GRCh37/hg19 4q25(chr4:112481911-113756889)	ALPK1, ANK2 +11 more	Copy number gain	Neurodevelopmental delay	GUncertain significance
Select item 1527117	GRCh37/hg19 4q25-26(chr4:112849108-115434557)	ALPK1, ANK2 +13 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 686806	GRCh37/hg19 4q25(chr4:113116277-113602286)x3	ALPK1, AP1AR +9 more	Copy number gain	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	LRBA, LRIT3 +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic

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Items: 34