ClinVar for Gene (Select 55501) - ClinVar

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267214	NM_018641.5(CHST12):c.777C>G (p.Phe259Leu)	CHST12 (F259L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267213	NM_018641.5(CHST12):c.215A>G (p.Lys72Arg)	CHST12 (K72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267212	NM_018641.5(CHST12):c.334C>T (p.Arg112Trp)	CHST12 (R112W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267211	NM_018641.5(CHST12):c.289A>G (p.Met97Val)	CHST12 (M97V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267210	NM_018641.5(CHST12):c.5C>T (p.Thr2Ile)	CHST12 (T2I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267209	NM_018641.5(CHST12):c.140C>T (p.Pro47Leu)	CHST12 (P47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144716	NM_018641.5(CHST12):c.973G>A (p.Val325Met)	CHST12 (V325M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144714	NM_018641.5(CHST12):c.589C>T (p.Arg197Cys)	CHST12 (R197C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144713	NM_018641.5(CHST12):c.323C>T (p.Pro108Leu)	CHST12 (P108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144712	NM_018641.5(CHST12):c.244G>A (p.Asp82Asn)	CHST12 (D82N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144711	NM_018641.5(CHST12):c.182C>G (p.Thr61Arg)	CHST12 (T61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144710	NM_018641.5(CHST12):c.1062G>C (p.Gln354His)	CHST12 (Q354H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144709	NM_018641.5(CHST12):c.1051C>G (p.Gln351Glu)	CHST12 (Q351E)	Single nucleotide variant (missense variant)	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 2685230	GRCh37/hg19 7p22.3(chr7:2469259-2610093)x1	BRAT1, CHST12 +2 more	Copy number loss	not provided	GUncertain significance
Select item 2684477	GRCh37/hg19 7p22.3-22.2(chr7:2409035-2850679)x3	AMZ1, BRAT1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684476	GRCh37/hg19 7p22.3-22.2(chr7:2380155-2885274)x3	AMZ1, BRAT1 +6 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 2681723	NM_018641.5(CHST12):c.936G>A (p.Thr312=)	CHST12	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2673139	GRCh37/hg19 7p22.3(chr7:2472275-2629740)x1	LFNG, BRAT1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 2620767	NM_018641.5(CHST12):c.1228A>G (p.Asn410Asp)	CHST12 (N410D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615555	NM_018641.5(CHST12):c.789C>G (p.Asn263Lys)	CHST12 (N263K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612341	NM_018641.5(CHST12):c.169G>T (p.Asp57Tyr)	CHST12 (D57Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599258	NM_018641.5(CHST12):c.1238G>A (p.Arg413Gln)	CHST12 (R413Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598529	NM_018641.5(CHST12):c.161C>T (p.Pro54Leu)	CHST12 (P54L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597668	NM_018641.5(CHST12):c.863C>T (p.Ala288Val)	CHST12 (A288V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2541345	NM_018641.5(CHST12):c.542T>A (p.Val181Glu)	CHST12 (V181E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525024	NM_018641.5(CHST12):c.661C>T (p.Arg221Cys)	CHST12 (R221C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521221	NM_018641.5(CHST12):c.263C>T (p.Thr88Met)	CHST12 (T88M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520690	NM_018641.5(CHST12):c.877C>T (p.Arg293Cys)	CHST12 (R293C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518353	NM_018641.5(CHST12):c.613G>A (p.Glu205Lys)	CHST12 (E205K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516878	NM_018641.5(CHST12):c.195T>G (p.Asp65Glu)	CHST12 (D65E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516108	NM_018641.5(CHST12):c.1038C>G (p.Asp346Glu)	CHST12 (D346E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479153	NM_018641.5(CHST12):c.1078C>T (p.Arg360Trp)	CHST12 (R360W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478324	NM_018641.5(CHST12):c.992C>T (p.Pro331Leu)	CHST12 (P331L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471939	NM_018641.5(CHST12):c.1097C>G (p.Pro366Arg)	CHST12 (P366R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398368	NM_018641.5(CHST12):c.999G>T (p.Gln333His)	CHST12 (Q333H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392875	NM_018641.5(CHST12):c.902C>A (p.Ala301Asp)	CHST12 (A301D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367451	NM_018641.5(CHST12):c.37C>G (p.Leu13Val)	CHST12 (L13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348984	NM_018641.5(CHST12):c.611G>A (p.Arg204His)	CHST12 (R204H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332531	NM_018641.5(CHST12):c.216G>C (p.Lys72Asn)	CHST12 (K72N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319290	NM_018641.5(CHST12):c.938A>G (p.Glu313Gly)	CHST12 (E313G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286573	NM_018641.5(CHST12):c.601C>T (p.Arg201Cys)	CHST12 (R201C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284578	NM_018641.5(CHST12):c.608C>T (p.Pro203Leu)	CHST12 (P203L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276419	NM_018641.5(CHST12):c.197T>A (p.Val66Asp)	CHST12 (V66D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266228	NM_018641.5(CHST12):c.1105C>T (p.Arg369Trp)	CHST12 (R369W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260435	NM_018641.5(CHST12):c.299G>C (p.Ser100Thr)	CHST12 (S100T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258904	NM_018641.5(CHST12):c.584C>G (p.Pro195Arg)	CHST12 (P195R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217970	NM_018641.5(CHST12):c.419C>T (p.Pro140Leu)	CHST12 (P140L)	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 1527332	GRCh37/hg19 7p22.3(chr7:2319788-2700303)	BRAT1, CHST12 +5 more	Copy number gain	not specified	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 783482	NM_018641.5(CHST12):c.629C>G (p.Ala210Gly)	CHST12 (A210G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 742397	NM_018641.5(CHST12):c.93C>T (p.Ala31=)	CHST12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 685076	GRCh37/hg19 7p22.3(chr7:2291136-2525534)x3	CHST12, EIF3B +1 more	Copy number gain	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 563342	GRCh37/hg19 7p22.3(chr7:2363275-2707822)x3	CHST12, IQCE +4 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 442580	GRCh37/hg19 7p22.3-22.2(chr7:2408769-2987197)x3	AMZ1, BRAT1 +7 more	Copy number gain	See cases	GUncertain significance
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
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 155196	GRCh38/hg38 7p22.3(chr7:2031462-2653470)x3	BRAT1, CHST12 +63 more	Copy number gain	See cases	GLikely benign
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 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	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 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 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 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	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 147494	GRCh38/hg38 7p22.3(chr7:1330987-2530644)x1	CHST12, EIF3B +99 more	Copy number loss	See cases	GUncertain significance
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 147216	GRCh38/hg38 7p22.3(chr7:2399677-2440907)x1	CHST12, LOC116183079 +7 more	Copy number loss	See cases	GBenign
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 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 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 57287	GRCh38/hg38 7p22.3(chr7:2109441-2412551)x1	CHST12, EIF3B +37 more	Copy number loss	See cases	GUncertain significance

ClinVar

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Germline classification

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Links from Gene

Items: 100