"GeneDx"[submitter] AND "NEUROD1"[gene] - ClinVar

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

Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 58772	GRCh38/hg38 2q31.2-32.1(chr2:178880151-185352829)x1	CCDC141, CERKL +104 more	Copy number loss	See cases	GPathogenic
Select item 58811	GRCh38/hg38 2q31.3-32.1(chr2:181491072-182559009)x1	CERKL, ITGA4 +20 more	Copy number loss	See cases	GPathogenic
Select item 1307264	NM_002500.5(NEUROD1):c.1055C>T (p.Ala352Val)	NEUROD1 (A352V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1053839	NM_002500.5(NEUROD1):c.917C>T (p.Ala306Val)	NEUROD1 (A306V)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 6 +2 more	GUncertain significance
Select item 1038985	NM_002500.5(NEUROD1):c.758T>C (p.Leu253Pro)	NEUROD1 (L253P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1169892	NM_002500.5(NEUROD1):c.723C>G (p.His241Gln)	NEUROD1 (H241Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1353077	NM_002500.5(NEUROD1):c.665A>T (p.Gln222Leu)	NEUROD1 (Q222L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 7854	NM_002500.5(NEUROD1):c.616dup (p.His206fs)	NEUROD1 (H206fs)	Duplication (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1145044	NM_002500.5(NEUROD1):c.610C>T (p.Pro204Ser)	NEUROD1 (P204S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 129763	NM_002500.5(NEUROD1):c.590C>A (p.Pro197His)	NEUROD1 (P197H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1215241	NM_002500.5(NEUROD1):c.-11-21C>T	NEUROD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187524	NM_002500.5(NEUROD1):c.-11-188G>T	NEUROD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 333040	NM_002500.5(NEUROD1):c.-60G>A	NEUROD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 333041	NM_002500.5(NEUROD1):c.-65C>T	NEUROD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1303540	NC_000002.12:g.181680580C>T	NEUROD1	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 1311900	NC_000002.12:g.181680587C>T	NEUROD1	Single nucleotide variant	not provided	GUncertain significance
Select item 1211931	NC_000002.12:g.181680831G>C	NEUROD1	Single nucleotide variant	not provided	GLikely benign
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 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: 20