ClinVar for Gene (Select 30010) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301741	NM_152745.3(NXPH1):c.106G>A (p.Gly36Arg)	NXPH1 (G36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301740	NM_152745.3(NXPH1):c.547G>A (p.Val183Met)	NXPH1 (V183M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203549	NM_152745.3(NXPH1):c.91G>A (p.Glu31Lys)	NXPH1 (E31K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203548	NM_152745.3(NXPH1):c.157T>G (p.Leu53Val)	NXPH1 (L53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203546	NM_152745.3(NXPH1):c.114C>A (p.Ser38Arg)	NXPH1 (S38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 2529703	NM_152745.3(NXPH1):c.791A>G (p.Asp264Gly)	NXPH1 (D264G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472152	NM_152745.3(NXPH1):c.82G>A (p.Gly28Arg)	NXPH1 (G28R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406692	NM_152745.3(NXPH1):c.584G>A (p.Arg195His)	NXPH1 (R195H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294898	NM_152745.3(NXPH1):c.14G>A (p.Cys5Tyr)	NXPH1 (C5Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246388	NM_152745.3(NXPH1):c.442A>G (p.Thr148Ala)	NXPH1 (T148A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228184	NM_152745.3(NXPH1):c.279C>G (p.Asn93Lys)	NXPH1 (N93K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1341133	GRCh37/hg19 7p21.3-21.1(chr7:7909867-17213072)x1	AGMO, AGR2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 1340432	GRCh37/hg19 7p21.3(chr7:8177689-8529618)x3	ICA1, NXPH1	Copy number gain	not provided	GLikely benign
Select item 814931	GRCh37/hg19 7p21.3(chr7:8737739-8914333)x1	NXPH1	Copy number loss	not provided	GUncertain significance
Select item 814914	GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3	ACTB, AIMP2 +54 more	Copy number gain	not provided	GPathogenic
Select item 779337	NM_152745.3(NXPH1):c.399G>A (p.Leu133=)	NXPH1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 737756	NM_152745.3(NXPH1):c.546C>T (p.Thr182=)	NXPH1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 736641	NM_152745.3(NXPH1):c.336G>A (p.Thr112=)	NXPH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 689141	GRCh37/hg19 7p21.3(chr7:8721491-8873817)x3	NXPH1	Copy number gain	not provided	GUncertain significance
Select item 687761	GRCh37/hg19 7p21.3(chr7:8791508-8956728)x3	NXPH1	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 563277	GRCh37/hg19 7p21.3(chr7:8660271-8719291)x1	NXPH1	Copy number loss	not provided	GLikely benign
Select item 446329	GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3	AP5Z1, C1GALT1 +42 more	Copy number gain	See cases	GPathogenic
Select item 443071	GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 442857	GRCh37/hg19 7p21.3-21.1(chr7:7660104-18400293)x3	AGMO, AGR2 +25 more	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 442503	GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3	DAGLB, DNAAF5 +76 more	Copy number gain	See cases	GPathogenic
Select item 442294	GRCh37/hg19 7p21.3(chr7:7484861-9088037)x3	COL28A1, GLCCI1 +4 more	Copy number gain	See cases	GLikely benign
Select item 442159	GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	ACTB, ADAP1 +82 more	Copy number gain	See cases	GPathogenic
Select item 395435	GRCh37/hg19 7p21.3(chr7:8217864-8519960)x3	ICA1, NXPH1	Copy number gain	See cases	GLikely benign
Select item 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	TNRC18, TTYH3 +80 more	Copy number gain	See cases	GPathogenic
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 155251	GRCh38/hg38 7p21.3(chr7:8162035-9921241)x3	ICA1, ICA1-AS1 +10 more	Copy number gain	See cases	GLikely benign
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 152083	GRCh38/hg38 7p21.3(chr7:8606335-8711498)x1	NXPH1	Copy number loss	See cases	GLikely benign
Select item 151572	GRCh38/hg38 7p21.3(chr7:8162035-8480330)x3	ICA1, ICA1-AS1 +3 more	Copy number gain	See cases	GLikely benign
Select item 150899	GRCh38/hg38 7p21.3(chr7:7249455-10718595)x3	COL28A1, GLCCI1 +62 more	Copy number gain	See cases	GLikely benign
Select item 150871	GRCh38/hg38 7p21.3(chr7:7815001-8767755)x3	GLCCI1, GLCCI1-DT +26 more	Copy number gain	See cases	GLikely benign
Select item 149368	GRCh38/hg38 7p21.3(chr7:8162001-8514772)x3	ICA1, ICA1-AS1 +3 more	Copy number gain	See cases	GLikely benign
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 145888	GRCh38/hg38 7p21.3(chr7:8636370-8767696)x1	LOC123924900, NXPH1	Copy number loss	See cases	GLikely benign
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 57254	GRCh38/hg38 7p22.1-21.3(chr7:6106402-11012657)x1	C1GALT1, CCZ1B +131 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 56