14972[HGNC] - ClinVar - NCBI

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	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 3167346	NM_013321.4(SNX8):c.1381G>A (p.Gly461Ser)	SNX8 (G461S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657228	NM_013321.4(SNX8):c.1377G>A (p.Glu459=)	SNX8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1291057	NM_013321.4(SNX8):c.1284+16T>C	SNX8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768130	NM_013321.4(SNX8):c.1284+9G>T	SNX8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2382624	NM_013321.4(SNX8):c.1262C>T (p.Ser421Phe)	SNX8 (S421F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382737	NM_013321.4(SNX8):c.1259A>C (p.Asn420Thr)	SNX8 (N420T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316690	NM_013321.4(SNX8):c.1205A>T (p.Gln402Leu)	SNX8 (Q402L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167345	NM_013321.4(SNX8):c.1178C>A (p.Ser393Tyr)	SNX8 (S393Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167344	NM_013321.4(SNX8):c.1097C>T (p.Pro366Leu)	SNX8 (P366L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251904	NM_013321.4(SNX8):c.1082C>T (p.Ala361Val)	SNX8 (A361V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3167342	NM_013321.4(SNX8):c.1081G>A (p.Ala361Thr)	SNX8 (A361T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251903	NM_013321.4(SNX8):c.1081G>T (p.Ala361Ser)	SNX8 (A361S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321356	NM_013321.4(SNX8):c.1065G>C (p.Gln355His)	SNX8 (Q355H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371561	NM_013321.4(SNX8):c.1007A>G (p.Lys336Arg)	SNX8 (K336R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321359	NM_013321.4(SNX8):c.997C>T (p.Arg333Trp)	SNX8 (R333W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476771	NM_013321.4(SNX8):c.919A>C (p.Lys307Gln)	SNX8 (K307Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351440	NM_013321.4(SNX8):c.898G>A (p.Asp300Asn)	SNX8 (D300N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167353	NM_013321.4(SNX8):c.885C>A (p.Phe295Leu)	SNX8 (F295L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167352	NM_013321.4(SNX8):c.824C>G (p.Ala275Gly)	SNX8 (A275G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 221713	GRCh38/hg38 7p22.3(chr7:2263321-2337697)x1	LOC129997800, LOC129997801 +9 more	Copy number loss	Premature ovarian failure	GUncertain significance
Select item 3167351	NM_013321.4(SNX8):c.800C>G (p.Thr267Arg)	SNX8 (T267R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398515	NM_013321.4(SNX8):c.751G>A (p.Ala251Thr)	SNX8 (A251T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167350	NM_013321.4(SNX8):c.731C>T (p.Ser244Leu)	SNX8 (S244L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321355	NM_013321.4(SNX8):c.728C>T (p.Ala243Val)	SNX8 (A243V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260495	NM_013321.4(SNX8):c.707G>A (p.Arg236His)	SNX8 (R236H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232635	NM_013321.4(SNX8):c.647C>T (p.Ala216Val)	SNX8 (A216V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381620	NM_013321.4(SNX8):c.638A>T (p.Asp213Val)	SNX8 (D213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243604	NM_013321.4(SNX8):c.615G>T (p.Arg205Ser)	SNX8 (R205S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398545	NM_013321.4(SNX8):c.551A>G (p.Asn184Ser)	SNX8 (N184S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292291	NM_013321.4(SNX8):c.541G>A (p.Asp181Asn)	SNX8 (D181N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321353	NM_013321.4(SNX8):c.535G>C (p.Gly179Arg)	SNX8 (G179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167349	NM_013321.4(SNX8):c.532A>G (p.Ser178Gly)	SNX8 (S178G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534007	NM_013321.4(SNX8):c.496T>C (p.Ser166Pro)	SNX8 (S166P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568482	NM_013321.4(SNX8):c.482G>A (p.Arg161Gln)	SNX8 (R161Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549131	NM_013321.4(SNX8):c.427G>C (p.Glu143Gln)	SNX8 (E143Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513762	NM_013321.4(SNX8):c.340G>A (p.Val114Met)	SNX8 (V114M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321357	NM_013321.4(SNX8):c.325C>T (p.Arg109Trp)	SNX8 (R109W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526038	NM_013321.4(SNX8):c.316G>C (p.Val106Leu)	SNX8 (V106L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735517	NM_013321.4(SNX8):c.297C>T (p.Ser99=)	SNX8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2216115	NM_013321.4(SNX8):c.289G>C (p.Val97Leu)	SNX8 (V97L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321358	NM_013321.4(SNX8):c.227C>T (p.Thr76Ile)	SNX8 (T76I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321354	NM_013321.4(SNX8):c.121C>T (p.Pro41Ser)	SNX8 (P41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240532	NM_013321.4(SNX8):c.119A>G (p.Glu40Gly)	SNX8 (E40G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167341	NM_013321.4(SNX8):c.107C>G (p.Pro36Arg)	SNX8 (P36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773474	NM_013321.4(SNX8):c.101C>T (p.Pro34Leu)	SNX8 (P34L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2487778	NM_013321.4(SNX8):c.41T>A (p.Val14Asp)	SNX8 (V14D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462284	NM_013321.4(SNX8):c.41T>G (p.Val14Gly)	SNX8 (V14G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476734	NM_013321.4(SNX8):c.32C>G (p.Ala11Gly)	SNX8 (A11G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167347	NM_013321.4(SNX8):c.18G>A (p.Met6Ile)	SNX8 (M6I)	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 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 1527332	GRCh37/hg19 7p22.3(chr7:2319788-2700303)	BRAT1, CHST12 +5 more	Copy number gain	not specified	GUncertain significance
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 810238	GRCh37/hg19 7p22.3(chr7:2294689-2317940)x1	SNX8	Copy number loss	not provided	GUncertain significance
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 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 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

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