GET4[gene] - ClinVar

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Items: 93

	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 155274	GRCh38/hg38 7p22.3(chr7:45130-1298050)x1	ADAP1, C7orf50 +102 more	Copy number loss	See cases	GUncertain significance
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 160967	GRCh38/hg38 7p22.3(chr7:54185-1843584)x1	ADAP1, C7orf50 +140 more	Copy number loss	See cases	GPathogenic
Select item 148079	GRCh38/hg38 7p22.3(chr7:54185-1331046)x1	LOC129997768, LOC132089513 +102 more	Copy number loss	See cases	GUncertain significance
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 144710	GRCh38/hg38 7p22.3(chr7:54185-1206119)x3	ADAP1, C7orf50 +97 more	Copy number gain	See cases	GUncertain significance
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 58496	GRCh38/hg38 7p22.3(chr7:54185-1441125)x1	ADAP1, C7orf50 +108 more	Copy number loss	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 32434	GRCh38/hg38 7p22.3(chr7:54185-1843584)x1	ADAP1, C7orf50 +140 more	Copy number loss	See cases	GPathogenic
Select item 149269	GRCh38/hg38 7p22.3(chr7:689554-2031521)x3	ADAP1, C7orf50 +117 more	Copy number gain	See cases	GUncertain significance
Select item 147514	GRCh38/hg38 7p22.3(chr7:791215-1993065)x3	ADAP1, C7orf50 +105 more	Copy number gain	See cases	GUncertain significance
Select item 152395	GRCh38/hg38 7p22.3(chr7:866937-948487)x3	ADAP1, GET4 +16 more	Copy number gain	See cases	GBenign
Select item 3281228	NM_015949.3(GET4):c.110G>A (p.Gly37Asp)	GET4, LOC129997739 (G37D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281227	NM_015949.3(GET4):c.160A>G (p.Met54Val)	GET4 (M54V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302243	NM_015949.3(GET4):c.203C>T (p.Ser68Leu)	GET4 (S68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262205	NM_015949.3(GET4):c.206G>C (p.Gly69Ala)	GET4 (G69A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099424	NM_015949.3(GET4):c.227A>G (p.His76Arg)	GET4 (H76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657171	NM_015949.3(GET4):c.255G>A (p.Leu85=)	GET4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2293456	NM_015949.3(GET4):c.332T>C (p.Val111Ala)	GET4 (V111A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 979050	NM_015949.3(GET4):c.365G>A (p.Arg122His)	GET4 (R122H)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIy +1 more	GPathogenic/Likely pathogenic
Select item 2494852	NM_015949.3(GET4):c.412G>A (p.Gly138Arg)	GET4 (G138R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099425	NM_015949.3(GET4):c.428C>G (p.Pro143Arg)	GET4 (P143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099426	NM_015949.3(GET4):c.451C>T (p.Leu151Phe)	GET4 (L151F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238755	NM_015949.3(GET4):c.455C>G (p.Thr152Ser)	GET4 (T152S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152401	GRCh38/hg38 7p22.3(chr7:890905-948487)x3	ADAP1, GET4 +10 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 151574	GRCh38/hg38 7p22.3(chr7:890905-990730)x3	ADAP1, C7orf50 +18 more	Copy number gain	See cases	GBenign
Select item 151557	GRCh38/hg38 7p22.3(chr7:890905-945447)x3	ADAP1, GET4 +10 more	Copy number gain	See cases	GBenign
Select item 2384524	NM_015949.3(GET4):c.532A>G (p.Met178Val)	GET4 (M178V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463738	NM_015949.3(GET4):c.551C>T (p.Thr184Met)	GET4 (T184M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099427	NM_015949.3(GET4):c.559G>A (p.Gly187Ser)	GET4 (G187S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381630	NM_015949.3(GET4):c.574G>T (p.Val192Leu)	GET4 (V192L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317953	NM_015949.3(GET4):c.589G>A (p.Ala197Thr)	GET4 (A197T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295238	NM_015949.3(GET4):c.638C>T (p.Ser213Leu)	GET4 (S213L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785870	NM_015949.3(GET4):c.645C>T (p.Val215=)	GET4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2276996	NM_015949.3(GET4):c.676A>G (p.Ile226Val)	GET4 (I226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099428	NM_015949.3(GET4):c.679G>A (p.Glu227Lys)	GET4 (E227K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558896	NM_015949.3(GET4):c.684C>G (p.Asp228Glu)	GET4 (D228E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714406	NM_015949.3(GET4):c.693G>A (p.Pro231=)	GET4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710436	NM_015949.3(GET4):c.744C>T (p.Asp248=)	GET4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2603964	NM_015949.3(GET4):c.752A>C (p.Lys251Thr)	GET4 (K251T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490069	NM_015949.3(GET4):c.767C>A (p.Thr256Asn)	GET4 (T256N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319679	NM_015949.3(GET4):c.790C>G (p.Pro264Ala)	GET4 (P264A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394346	NM_015949.3(GET4):c.800G>A (p.Arg267Gln)	GET4 (R267Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099429	NM_015949.3(GET4):c.812T>C (p.Met271Thr)	GET4 (M271T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 979051	NM_015949.3(GET4):c.837A>G (p.Ile279Met)	GET4 (I279M)	Single nucleotide variant (missense variant)	GET4-related disorder	GUncertain significance
Select item 752117	NM_015949.3(GET4):c.844C>T (p.Leu282=)	GET4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3099430	NM_015949.3(GET4):c.853G>A (p.Gly285Ser)	GET4 (G285S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455062	NM_015949.3(GET4):c.856G>A (p.Val286Ile)	GET4 (V286I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099431	NM_015949.3(GET4):c.883G>A (p.Gly295Arg)	GET4 (G295R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657172	NM_015949.3(GET4):c.912C>T (p.Ser304=)	GET4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2601268	NM_015949.3(GET4):c.941G>C (p.Gly314Ala)	GET4 (G314A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537534	NM_015949.3(GET4):c.958G>C (p.Asp320His)	GET4 (D320H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219698	NM_015949.3(GET4):c.962G>A (p.Gly321Asp)	GET4 (G321D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281229	NM_015949.3(GET4):c.972C>T (p.Ile324=)	GET4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 152399	GRCh38/hg38 7p22.3(chr7:896276-1022380)x3	ADAP1, C7orf50 +20 more	Copy number gain	See cases	GBenign
Select item 151556	GRCh38/hg38 7p22.3(chr7:896276-940377)x3	ADAP1, GET4 +9 more	Copy number gain	See cases	GBenign
Select item 3062959	GRCh37/hg19 7p22.3(chr7:43360-2020306)x1	ADAP1, C7orf50 +19 more	Copy number loss	not specified	GPathogenic
Select item 2684472	GRCh37/hg19 7p22.3(chr7:704573-941737)x3	PRKAR1B, SUN1 +3 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 2426527	NC_000007.13:g.(?_193200)_(1498962_?)del	ADAP1, C7orf50 +13 more	Deletion	not provided	GPathogenic
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 980821	GRCh37/hg19 7p22.3(chr7:795826-931003)x1	DNAAF5, GET4 +1 more	Copy number loss	not provided	GUncertain significance
Select item 816483	GRCh37/hg19 7p22.3(chr7:44935-1750797)x1	TMEM184A, GET4 +18 more	Copy number loss	See cases	GPathogenic
Select item 814911	GRCh37/hg19 7p22.3(chr7:43360-1648288)x1	INTS1, ZFAND2A +17 more	Copy number loss	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 638135	GRCh37/hg19 7p22.3(chr7:869147-1438686)x1	ADAP1, C7orf50 +8 more	Copy number loss	See cases	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 443817	GRCh37/hg19 7p22.3(chr7:43360-2057743)x1	ADAP1, C7orf50 +19 more	Copy number loss	See cases	GLikely pathogenic
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 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 394574	GRCh37/hg19 7p22.3(chr7:794174-935913)x1	DNAAF5, GET4 +1 more	Copy number loss	See cases	GUncertain significance
Select item 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	TNRC18, TTYH3 +80 more	Copy number gain	See cases	GPathogenic

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Items: 93