ClinVar for Gene (Select 342897) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3181908	NM_001001414.2(NCCRP1):c.715C>A (p.Pro239Thr)	NCCRP1 (P239T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181905	NM_001001414.2(NCCRP1):c.697G>A (p.Val233Ile)	NCCRP1 (V233I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181903	NM_001001414.2(NCCRP1):c.658G>A (p.Gly220Arg)	NCCRP1 (G220R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181900	NM_001001414.2(NCCRP1):c.640G>A (p.Val214Met)	NCCRP1 (V214M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181897	NM_001001414.2(NCCRP1):c.553G>A (p.Glu185Lys)	NCCRP1 (E185K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2685637	GRCh37/hg19 19q13.2(chr19:39549605-39732047)x1	ACP7, NCCRP1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 2622267	NM_001001414.2(NCCRP1):c.236C>A (p.Pro79Gln)	NCCRP1 (P79Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619849	NM_001001414.2(NCCRP1):c.202C>T (p.His68Tyr)	NCCRP1 (H68Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600352	NM_001001414.2(NCCRP1):c.410G>A (p.Arg137His)	NCCRP1 (R137H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588254	NM_001001414.2(NCCRP1):c.542T>C (p.Met181Thr)	NCCRP1 (M181T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542273	NM_001001414.2(NCCRP1):c.271A>G (p.Thr91Ala)	NCCRP1 (T91A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535239	NM_001001414.2(NCCRP1):c.383G>A (p.Arg128Gln)	NCCRP1 (R128Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 2423269	NC_000019.9:g.(?_38375572)_(39738787_?)dup	RINL, RYR1 +34 more	Duplication	RYR1-Related Disorders	GUncertain significance
Select item 2410542	NM_001001414.2(NCCRP1):c.787C>T (p.Arg263Trp)	NCCRP1 (R263W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408439	NM_001001414.2(NCCRP1):c.523C>A (p.Gln175Lys)	NCCRP1 (Q175K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346219	NM_001001414.2(NCCRP1):c.520G>A (p.Glu174Lys)	NCCRP1 (E174K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295163	NM_001001414.2(NCCRP1):c.479A>G (p.Asp160Gly)	NCCRP1 (D160G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250547	NM_001001414.2(NCCRP1):c.130C>G (p.Pro44Ala)	NCCRP1 (P44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240888	NM_001001414.2(NCCRP1):c.545A>C (p.Asp182Ala)	NCCRP1 (D182A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 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
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 28