4902[geneid] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +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)	Inborn genetic diseases	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 259425	NM_004558.5(NRTN):c.144C>T (p.Asp48=)	NRTN	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2369980	NM_004558.5(NRTN):c.167A>C (p.Gln56Pro)	NRTN (Q56P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 259426	NM_004558.5(NRTN):c.170-18C>T	NRTN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 259427	NM_004558.5(NRTN):c.175G>A (p.Ala59Thr)	NRTN (A59T)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2459980	NM_004558.5(NRTN):c.214G>A (p.Glu72Lys)	NRTN (E72K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623798	NM_004558.5(NRTN):c.224C>G (p.Pro75Arg)	NRTN (P75R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388564	NM_004558.5(NRTN):c.290G>A (p.Arg97Gln)	NRTN (R97Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218093	NM_004558.5(NRTN):c.301C>T (p.Arg101Trp)	NRTN (R101W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588094	NM_004558.5(NRTN):c.319G>A (p.Glu107Lys)	NRTN (E107K)	Single nucleotide variant (missense variant)	NRTN-related condition +1 more	GUncertain significance
Select item 2460707	NM_004558.5(NRTN):c.374T>C (p.Val125Ala)	NRTN (V125A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540755	NM_004558.5(NRTN):c.383G>C (p.Arg128Pro)	NRTN (R128P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246301	NM_004558.5(NRTN):c.418G>C (p.Val140Leu)	NRTN (V140L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524818	NM_004558.5(NRTN):c.460C>G (p.Leu154Val)	NRTN (L154V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2364054	NM_004558.5(NRTN):c.461T>G (p.Leu154Arg)	NRTN (L154R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225016	NM_004558.5(NRTN):c.470A>G (p.Glu157Gly)	NRTN (E157G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 259428	NM_004558.5(NRTN):c.474G>C (p.Arg158=)	NRTN	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2246867	NM_004558.5(NRTN):c.481G>C (p.Ala161Pro)	NRTN (A161P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265082	NM_004558.5(NRTN):c.516C>G (p.Asp172Glu)	NRTN (D172E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569429	NM_004558.5(NRTN):c.535G>A (p.Ala179Thr)	NRTN (A179T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046973	NM_004558.5(NRTN):c.555G>A (p.Thr185=)	NRTN	Single nucleotide variant (synonymous variant)	NRTN-related condition	GLikely benign
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 1682753	NC_000019.9:g.(?_5678562)_(5903719_?)dup	FUT6, HSD11B1L +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)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 31