ClinVar for Gene (Select 64106) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3201632	NM_022146.5(NPFFR1):c.902C>T (p.Pro301Leu)	NPFFR1 (P301L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201631	NM_022146.5(NPFFR1):c.755G>T (p.Gly252Val)	NPFFR1 (G252V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201629	NM_022146.5(NPFFR1):c.466C>G (p.Arg156Gly)	NPFFR1 (R156G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201628	NM_022146.5(NPFFR1):c.361T>G (p.Leu121Val)	NPFFR1 (L121V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201626	NM_022146.5(NPFFR1):c.127G>A (p.Ala43Thr)	NPFFR1 (A43T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201625	NM_022146.5(NPFFR1):c.1112G>T (p.Arg371Leu)	NPFFR1 (R371L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2603980	NM_022146.5(NPFFR1):c.152C>A (p.Ala51Glu)	NPFFR1 (A51E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600048	NM_022146.5(NPFFR1):c.517A>G (p.Met173Val)	NPFFR1 (M173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2561003	NM_022146.5(NPFFR1):c.278G>A (p.Gly93Asp)	NPFFR1 (G93D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537105	NM_022146.5(NPFFR1):c.41C>G (p.Pro14Arg)	NPFFR1 (P14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493782	NM_022146.5(NPFFR1):c.1070A>T (p.Lys357Met)	NPFFR1 (K357M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477532	NM_022146.5(NPFFR1):c.652A>G (p.Thr218Ala)	NPFFR1 (T218A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2407121	NM_022146.5(NPFFR1):c.653C>T (p.Thr218Ile)	NPFFR1 (T218I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349533	NM_022146.5(NPFFR1):c.1216G>A (p.Val406Met)	NPFFR1 (V406M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345006	NM_022146.5(NPFFR1):c.527C>T (p.Ser176Leu)	NPFFR1 (S176L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343124	NM_022146.5(NPFFR1):c.1228G>T (p.Gly410Cys)	NPFFR1 (G410C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341499	NM_022146.5(NPFFR1):c.971C>T (p.Ala324Val)	NPFFR1 (A324V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335369	NM_022146.5(NPFFR1):c.1139A>C (p.Asp380Ala)	NPFFR1 (D380A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329881	NM_022146.5(NPFFR1):c.371G>A (p.Gly124Asp)	NPFFR1 (G124D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294371	NM_022146.5(NPFFR1):c.682C>T (p.Pro228Ser)	NPFFR1 (P228S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292384	NM_022146.5(NPFFR1):c.493A>G (p.Ile165Val)	NPFFR1 (I165V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285955	NM_022146.5(NPFFR1):c.802G>T (p.Val268Leu)	NPFFR1 (V268L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280074	NM_022146.5(NPFFR1):c.652A>C (p.Thr218Pro)	NPFFR1 (T218P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269365	NM_022146.5(NPFFR1):c.296C>T (p.Thr99Ile)	NPFFR1 (T99I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244155	NM_022146.5(NPFFR1):c.779G>C (p.Arg260Pro)	NPFFR1 (R260P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239541	NM_022146.5(NPFFR1):c.307G>T (p.Asp103Tyr)	NPFFR1 (D103Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204195	NM_022146.5(NPFFR1):c.220A>C (p.Met74Leu)	NPFFR1 (M74L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1340135	GRCh37/hg19 10q22.1(chr10:71754361-72399690)x3	AIFM2, EIF4EBP2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 776517	NM_022146.5(NPFFR1):c.577G>T (p.Ala193Ser)	NPFFR1 (A193S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769781	NM_022146.5(NPFFR1):c.816G>A (p.Leu272=)	NPFFR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720316	NM_022146.5(NPFFR1):c.587G>T (p.Arg196Leu)	NPFFR1 (R196L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 717656	NM_022146.5(NPFFR1):c.357C>T (p.Ser119=)	NPFFR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708807	NM_022146.5(NPFFR1):c.729C>G (p.Leu243=)	NPFFR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 393751	GRCh37/hg19 10q22.1(chr10:72015430-72063177)x3	LRRC20, NPFFR1	Copy number gain	See cases	GLikely benign
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC126860963, LOC126860964 +1008 more	Copy number gain	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	ADAMTS14, ADK +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	ADAMTS14, ADK +580 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 57436	GRCh38/hg38 10q22.1(chr10:70036168-70522664)x3	AIFM2, EIF4EBP2 +37 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

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Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

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Additional filters

Links from Gene

Items: 49