4902[geneid] - ClinVar

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

Search results

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 2263030	NM_004558.5(NRTN):c.94C>T (p.Arg32Cys)	NRTN (R32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689607	NM_004558.5(NRTN):c.95G>A (p.Arg32His)	NRTN (R32H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3202219	NM_004558.5(NRTN):c.124C>T (p.Arg42Cys)	NRTN (R42C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 259425	NM_004558.5(NRTN):c.144C>T (p.Asp48=)	NRTN	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2369980	NM_004558.5(NRTN):c.167A>C (p.Gln56Pro)	NRTN (Q56P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 259426	NM_004558.5(NRTN):c.170-18C>T	NRTN	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 259427	NM_004558.5(NRTN):c.175G>A (p.Ala59Thr)	NRTN (A59T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2459980	NM_004558.5(NRTN):c.214G>A (p.Glu72Lys)	NRTN (E72K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623798	NM_004558.5(NRTN):c.224C>G (p.Pro75Arg)	NRTN (P75R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202221	NM_004558.5(NRTN):c.236G>T (p.Arg79Leu)	NRTN (R79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3350525	NM_004558.5(NRTN):c.270G>C (p.Arg90=)	NRTN	Single nucleotide variant (synonymous variant)	NRTN-related disorder	GLikely benign
Select item 3352193	NM_004558.5(NRTN):c.276G>A (p.Arg92=)	NRTN	Single nucleotide variant (synonymous variant)	NRTN-related disorder	GLikely benign
Select item 2388564	NM_004558.5(NRTN):c.290G>A (p.Arg97Gln)	NRTN (R97Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3353028	NM_004558.5(NRTN):c.292T>C (p.Leu98=)	NRTN	Single nucleotide variant (synonymous variant)	NRTN-related disorder	GLikely benign
Select item 2218093	NM_004558.5(NRTN):c.301C>T (p.Arg101Trp)	NRTN (R101W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588094	NM_004558.5(NRTN):c.319G>A (p.Glu107Lys)	NRTN (E107K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2460707	NM_004558.5(NRTN):c.374T>C (p.Val125Ala)	NRTN (V125A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540755	NM_004558.5(NRTN):c.383G>C (p.Arg128Pro)	NRTN (R128P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246301	NM_004558.5(NRTN):c.418G>C (p.Val140Leu)	NRTN (V140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301091	NM_004558.5(NRTN):c.427C>T (p.Leu143Phe)	NRTN (L143F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202222	NM_004558.5(NRTN):c.427C>G (p.Leu143Val)	NRTN (L143V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524818	NM_004558.5(NRTN):c.460C>G (p.Leu154Val)	NRTN (L154V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364054	NM_004558.5(NRTN):c.461T>G (p.Leu154Arg)	NRTN (L154R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225016	NM_004558.5(NRTN):c.470A>G (p.Glu157Gly)	NRTN (E157G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 259428	NM_004558.5(NRTN):c.474G>C (p.Arg158=)	NRTN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2246867	NM_004558.5(NRTN):c.481G>C (p.Ala161Pro)	NRTN (A161P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202223	NM_004558.5(NRTN):c.514G>A (p.Asp172Asn)	NRTN (D172N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265082	NM_004558.5(NRTN):c.516C>G (p.Asp172Glu)	NRTN (D172E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301093	NM_004558.5(NRTN):c.518A>C (p.Glu173Ala)	NRTN (E173A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569429	NM_004558.5(NRTN):c.535G>A (p.Ala179Thr)	NRTN (A179T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301092	NM_004558.5(NRTN):c.540C>G (p.His180Gln)	NRTN (H180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352591	NM_004558.5(NRTN):c.543C>T (p.Ser181=)	NRTN	Single nucleotide variant (synonymous variant)	NRTN-related disorder	GLikely benign
Select item 3046973	NM_004558.5(NRTN):c.555G>A (p.Thr185=)	NRTN	Single nucleotide variant (synonymous variant)	NRTN-related disorder	GLikely benign
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 1682753	NC_000019.9:g.(?_5678562)_(5903719_?)dup	CATSPERD, DUS3L +10 more	Duplication	not provided	GUncertain significance
Select item 1411282	NC_000019.9:g.(?_5678562)_(5897028_?)dup	CATSPERD, DUS3L +10 more	Duplication	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 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: 43