ClinVar for Gene (Select 64111) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300874	NM_022150.3(NPVF):c.463C>T (p.Pro155Ser)	NPVF (P155S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300873	NM_022150.3(NPVF):c.368G>A (p.Arg123His)	NPVF (R123H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3300872	NM_022150.3(NPVF):c.377A>G (p.Asn126Ser)	NPVF (N126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201825	NM_022150.3(NPVF):c.488C>T (p.Ser163Phe)	NPVF (S163F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201824	NM_022150.3(NPVF):c.435T>A (p.Ser145Arg)	NPVF (S145R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201823	NM_022150.3(NPVF):c.168C>G (p.Ser56Arg)	NPVF (S56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062961	GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	ABCB5, AGMO +71 more	Copy number loss	not specified	GPathogenic
Select item 2622335	NM_022150.3(NPVF):c.122A>G (p.Tyr41Cys)	NPVF (Y41C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355681	NM_022150.3(NPVF):c.403A>G (p.Thr135Ala)	NPVF (T135A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353274	NM_022150.3(NPVF):c.367C>T (p.Arg123Cys)	NPVF (R123C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324319	NM_022150.3(NPVF):c.568G>A (p.Ala190Thr)	NPVF (A190T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305207	NM_022150.3(NPVF):c.493A>T (p.Thr165Ser)	NPVF (T165S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267420	NM_022150.3(NPVF):c.321C>A (p.Asn107Lys)	NPVF (N107K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261183	NM_022150.3(NPVF):c.434G>A (p.Ser145Asn)	NPVF (S145N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247817	NM_022150.3(NPVF):c.520C>T (p.Pro174Ser)	NPVF (P174S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232038	NM_022150.3(NPVF):c.47C>T (p.Thr16Ile)	NPVF (T16I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207226	NM_022150.3(NPVF):c.466T>C (p.Cys156Arg)	NPVF (C156R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 814947	GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1	FKBP14, HNRNPA2B1 +61 more	Copy number loss	not provided	GPathogenic
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 599189	NC_000007.13:g.23236782_30690453del7453672	NFE2L3, NOD1 +53 more	Deletion	Silver Russell Syndrome-related disorder	GPathogenic
Select item 443815	GRCh37/hg19 7p15.3-14.3(chr7:24344104-28879357)x1	CBX3, CREB5 +31 more	Copy number loss	See cases	GPathogenic
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 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 253643	GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	ADCYAP1R1, AQP1 +68 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	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 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 149206	GRCh38/hg38 7p15.3-15.2(chr7:23765383-26136158)x1	LOC129998102, LOC129998103 +73 more	Copy number loss	See cases	GLikely pathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	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 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
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

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Links from Gene

Items: 45