8048[HGNC] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 155108	GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3	ADAP1, AMZ1 +246 more	Copy number gain	See cases	GUncertain significance
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 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 154928	GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1	LOC126859917, LOC126859918 +245 more	Copy number loss	See cases	GPathogenic
Select item 147625	GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1	ADAP1, AMZ1 +246 more	Copy number loss	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 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 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 148752	GRCh38/hg38 7p22.3(chr7:1085248-2530644)x4	C7orf50, CHST12 +116 more	Copy number gain	See cases	GUncertain significance
Select item 147494	GRCh38/hg38 7p22.3(chr7:1330987-2530644)x1	CHST12, EIF3B +99 more	Copy number loss	See cases	GUncertain significance
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 155196	GRCh38/hg38 7p22.3(chr7:2031462-2653470)x3	BRAT1, CHST12 +63 more	Copy number gain	See cases	GLikely benign
Select item 57287	GRCh38/hg38 7p22.3(chr7:2109441-2412551)x1	CHST12, EIF3B +37 more	Copy number loss	See cases	GUncertain significance
Select item 3202753	NM_002452.4(NUDT1):c.50G>A (p.Arg17Gln)	NUDT1 (R17Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222876	NM_002452.4(NUDT1):c.82G>A (p.Gly28Arg)	NUDT1 (G51R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521923	NM_002452.4(NUDT1):c.85G>A (p.Ala29Thr)	NUDT1 (A29T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510722	NM_002452.4(NUDT1):c.88G>A (p.Gly30Ser)	NUDT1 (G30S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507818	NM_002452.4(NUDT1):c.107G>T (p.Gly36Val)	NUDT1 (G36V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257700	NM_002452.4(NUDT1):c.207G>C (p.Gln69His)	NUDT1 (Q69H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3202751	NM_002452.4(NUDT1):c.223G>A (p.Val75Met)	NUDT1 (V75M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391968	NM_002452.4(NUDT1):c.229G>A (p.Glu77Lys)	NUDT1 (E100K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373356	NM_002452.4(NUDT1):c.263C>T (p.Thr88Ile)	NUDT1 (T111I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314926	NM_002452.4(NUDT1):c.269G>A (p.Ser90Asn)	NUDT1 (S90N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657227	NM_002452.4(NUDT1):c.285C>T (p.Pro95=)	NUDT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2214843	NM_002452.4(NUDT1):c.286G>A (p.Val96Met)	NUDT1 (V119M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301372	NM_002452.4(NUDT1):c.400C>A (p.His134Asn)	NUDT1 (H157N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2389991	NM_002452.4(NUDT1):c.443A>G (p.Tyr148Cys)	NUDT1 (Y148C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2596103	NM_002452.4(NUDT1):c.451C>T (p.Arg151Cys)	NUDT1 (R151C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062980	GRCh37/hg19 7p22.3-22.2(chr7:2163435-2987198)x3	AMZ1, BRAT1 +11 more	Copy number gain	not specified	GUncertain significance
Select item 3062963	GRCh37/hg19 7p22.3-22.2(chr7:2088540-3127784)x3	AMZ1, BRAT1 +11 more	Copy number gain	not specified	GUncertain significance
Select item 2684474	GRCh37/hg19 7p22.3(chr7:2275328-2408829)x3	EIF3B, MRM2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684473	GRCh37/hg19 7p22.3(chr7:2163436-2610093)x3	BRAT1, CHST12 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2684470	GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3	RNF216, SDK1 +48 more	Copy number gain	not provided	GPathogenic
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 1808366	GRCh37/hg19 7p22.3(chr7:2262524-2433729)x3	EIF3B, MAD1L1 +3 more	Copy number gain	not provided	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 1340052	GRCh37/hg19 7p22.3(chr7:1871564-2430156)x3	EIF3B, MAD1L1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 980822	GRCh37/hg19 7p22.3(chr7:2082065-2669221)x3	BRAT1, CHST12 +7 more	Copy number gain	not provided	GUncertain significance
Select item 980818	GRCh37/hg19 7p22.3(chr7:2169252-2577781)x3	BRAT1, CHST12 +6 more	Copy number gain	not provided	GUncertain significance
Select item 980817	GRCh37/hg19 7p22.3(chr7:2155103-2629996)x3	BRAT1, CHST12 +7 more	Copy number gain	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 688582	GRCh37/hg19 7p22.3-22.2(chr7:36616-4298168)x1	ADAP1, AMZ1 +32 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 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 686543	GRCh37/hg19 7p22.3(chr7:2214169-2380156)x1	MAD1L1, MRM2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 563350	GRCh37/hg19 7p22.3(chr7:2219184-2612472)x1	BRAT1, EIF3B +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 493608	GRCh37/hg19 7p22.3(chr7:2126598-2329197)x3	MAD1L1, MRM2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 443916	GRCh37/hg19 7p22.3-22.2(chr7:43360-3642604)x1	ADAP1, AMZ1 +32 more	Copy number loss	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 443024	GRCh37/hg19 7p22.3-22.1(chr7:1201674-5175651)x1	AMZ1, AP5Z1 +26 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 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 442159	GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	ACTB, ADAP1 +82 more	Copy number gain	See cases	GPathogenic
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 253802	GRCh37/hg19 7p22.3-22.2(chr7:1004794-4063934)x4	CYP2W1, PSMG3 +25 more	Copy number gain	See cases	GUncertain significance

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Items: 66