23097[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 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 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	LOC121740684, LOC121740685 +4735 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 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 148915	GRCh38/hg38 7p22.1(chr7:4849987-5760088)x3	ACTB, FBXL18 +75 more	Copy number gain	See cases	GLikely pathogenic
Select item 59565	GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3	ACTB, AIMP2 +119 more	Copy number gain	See cases	GUncertain significance
Select item 58505	GRCh38/hg38 7p22.1(chr7:5062000-5825183)x1	ACTB, FBXL18 +71 more	Copy number loss	See cases	GPathogenic
Select item 58498	GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1	LOC129997877, LOC129997878 +137 more	Copy number loss	See cases	GPathogenic
Select item 150149	GRCh38/hg38 7p22.1(chr7:5089286-5331174)x1	LOC121144502, LOC123924895 +17 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 58507	GRCh38/hg38 7p22.1(chr7:5117519-5880375)x1	ACTB, FBXL18 +69 more	Copy number loss	See cases	GPathogenic
Select item 151554	GRCh38/hg38 7p22.1(chr7:5171797-5635439)x3	ACTB, FBXL18 +52 more	Copy number gain	See cases	GUncertain significance
Select item 146045	GRCh38/hg38 7p22.1(chr7:5171797-5480926)x3	FBXL18, LINC02983 +19 more	Copy number gain	See cases	GUncertain significance
Select item 778932	NM_153247.4(SLC29A4):c.70A>C (p.Met24Leu)	SLC29A4 (M24L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3042969	NM_153247.4(SLC29A4):c.84C>T (p.Phe28=)	SLC29A4	Single nucleotide variant (synonymous variant)	SLC29A4-related disorder	GLikely benign
Select item 3164082	NM_153247.4(SLC29A4):c.85G>A (p.Asp29Asn)	SLC29A4 (D29N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044053	NM_153247.4(SLC29A4):c.86A>G (p.Asp29Gly)	SLC29A4 (D29G)	Single nucleotide variant (missense variant)	SLC29A4-related disorder	GBenign
Select item 2405897	NM_153247.4(SLC29A4):c.107C>T (p.Ala36Val)	SLC29A4 (A36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039412	NM_153247.4(SLC29A4):c.111G>A (p.Ala37=)	SLC29A4	Single nucleotide variant (synonymous variant)	SLC29A4-related disorder	GLikely benign
Select item 503838	NM_153247.4(SLC29A4):c.116_124dup (p.Ala39_Gln41dup)	SLC29A4	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2455074	NM_153247.4(SLC29A4):c.116C>T (p.Ala39Val)	SLC29A4 (A39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248846	NM_153247.4(SLC29A4):c.175G>A (p.Asp59Asn)	SLC29A4 (D59N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398711	NM_153247.4(SLC29A4):c.190G>A (p.Asp64Asn)	SLC29A4 (D64N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508512	NM_153247.4(SLC29A4):c.218C>T (p.Ala73Val)	SLC29A4 (A73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616235	NM_153247.4(SLC29A4):c.230C>A (p.Ala77Asp)	SLC29A4 (A77D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277927	NM_153247.4(SLC29A4):c.235G>A (p.Val79Met)	SLC29A4 (V79M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558395	NM_153247.4(SLC29A4):c.305C>T (p.Thr102Ile)	SLC29A4 (T102I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508829	NM_153247.4(SLC29A4):c.361C>T (p.Leu121Phe)	SLC29A4 (L121F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657269	NM_153247.4(SLC29A4):c.411C>G (p.Thr137=)	SLC29A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3164076	NM_153247.4(SLC29A4):c.439C>T (p.Leu147Phe)	SLC29A4 (L147F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216337	NM_153247.4(SLC29A4):c.535G>A (p.Gly179Ser)	SLC29A4 (G179S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3057275	NM_153247.4(SLC29A4):c.545-4T>C	SLC29A4	Single nucleotide variant (intron variant)	SLC29A4-related disorder	GLikely benign
Select item 3164077	NM_153247.4(SLC29A4):c.572C>T (p.Thr191Met)	SLC29A4 (T191M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164078	NM_153247.4(SLC29A4):c.578T>C (p.Met193Thr)	SLC29A4 (M179T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164079	NM_153247.4(SLC29A4):c.596C>T (p.Thr199Met)	SLC29A4 (T199M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614091	NM_153247.4(SLC29A4):c.601G>C (p.Gly201Arg)	SLC29A4 (G187R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305772	NM_153247.4(SLC29A4):c.616G>A (p.Glu206Lys)	SLC29A4 (E206K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594341	NM_153247.4(SLC29A4):c.622A>G (p.Thr208Ala)	SLC29A4 (T194A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164080	NM_153247.4(SLC29A4):c.650G>C (p.Arg217Pro)	SLC29A4 (R217P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164081	NM_153247.4(SLC29A4):c.709G>C (p.Val237Leu)	SLC29A4 (V223L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057960	NM_153247.4(SLC29A4):c.739C>T (p.Leu247=)	SLC29A4	Single nucleotide variant (synonymous variant)	SLC29A4-related disorder	GLikely benign
Select item 777174	NM_153247.4(SLC29A4):c.766C>T (p.Arg256Cys)	SLC29A4 (R242C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2224880	NM_153247.4(SLC29A4):c.775C>G (p.Leu259Val)	SLC29A4 (L259V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291967	NM_153247.4(SLC29A4):c.787A>C (p.Thr263Pro)	SLC29A4 (T249P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214274	NM_153247.4(SLC29A4):c.836A>G (p.Tyr279Cys)	SLC29A4 (Y279C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461327	NM_153247.4(SLC29A4):c.844C>G (p.Arg282Gly)	SLC29A4 (R268G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325668	NM_153247.4(SLC29A4):c.853C>T (p.His285Tyr)	SLC29A4 (H285Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736918	NM_153247.4(SLC29A4):c.858C>T (p.Asp286=)	SLC29A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778933	NM_153247.4(SLC29A4):c.882+8C>T	SLC29A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 778934	NM_153247.4(SLC29A4):c.894C>A (p.Ala298=)	SLC29A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3164083	NM_153247.4(SLC29A4):c.908C>T (p.Pro303Leu)	SLC29A4 (P303L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164084	NM_153247.4(SLC29A4):c.917C>G (p.Ser306Cys)	SLC29A4 (S292C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047347	NM_153247.4(SLC29A4):c.921A>G (p.Pro307=)	SLC29A4	Single nucleotide variant (synonymous variant)	SLC29A4-related disorder	GLikely benign
Select item 2530223	NM_153247.4(SLC29A4):c.937C>G (p.His313Asp)	SLC29A4 (H299D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035277	NM_153247.4(SLC29A4):c.948C>T (p.Thr316=)	SLC29A4	Single nucleotide variant (synonymous variant)	SLC29A4-related disorder	GLikely benign
Select item 773735	NM_153247.4(SLC29A4):c.949G>A (p.Gly317Ser)	SLC29A4 (G317S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2273587	NM_153247.4(SLC29A4):c.955G>A (p.Gly319Ser)	SLC29A4 (G305S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056081	NM_153247.4(SLC29A4):c.957C>T (p.Gly319=)	SLC29A4	Single nucleotide variant (synonymous variant)	SLC29A4-related disorder	GBenign
Select item 2347267	NM_153247.4(SLC29A4):c.958G>A (p.Gly320Arg)	SLC29A4 (G320R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164085	NM_153247.4(SLC29A4):c.967A>G (p.Met323Val)	SLC29A4 (M309V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060950	NM_153247.4(SLC29A4):c.978T>C (p.Asp326=)	SLC29A4	Single nucleotide variant (synonymous variant)	SLC29A4-related disorder	GBenign
Select item 3058690	NM_153247.4(SLC29A4):c.984G>A (p.Pro328=)	SLC29A4	Single nucleotide variant (synonymous variant)	SLC29A4-related disorder	GLikely benign
Select item 792068	NM_153247.4(SLC29A4):c.1000C>T (p.Arg334Cys)	SLC29A4 (R334C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2405865	NM_153247.4(SLC29A4):c.1001G>A (p.Arg334His)	SLC29A4 (R334H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164070	NM_153247.4(SLC29A4):c.1005C>G (p.Ser335Arg)	SLC29A4 (S321R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164071	NM_153247.4(SLC29A4):c.1017C>G (p.Phe339Leu)	SLC29A4 (F339L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045159	NM_153247.4(SLC29A4):c.1041C>T (p.Tyr347=)	SLC29A4	Single nucleotide variant (synonymous variant)	SLC29A4-related disorder	GBenign
Select item 2592404	NM_153247.4(SLC29A4):c.1042G>A (p.Val348Met)	SLC29A4 (V334M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058477	NM_153247.4(SLC29A4):c.1056G>C (p.Val352=)	SLC29A4	Single nucleotide variant (synonymous variant)	SLC29A4-related disorder	GLikely benign
Select item 2554039	NM_153247.4(SLC29A4):c.1084G>A (p.Val362Met)	SLC29A4 (V348M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3164072	NM_153247.4(SLC29A4):c.1088C>T (p.Thr363Ile)	SLC29A4 (T349I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037171	NM_153247.4(SLC29A4):c.1122C>T (p.Leu374=)	SLC29A4	Single nucleotide variant (synonymous variant)	SLC29A4-related disorder	GLikely benign
Select item 3041757	NM_153247.4(SLC29A4):c.1200C>T (p.Phe400=)	SLC29A4	Single nucleotide variant (synonymous variant)	SLC29A4-related disorder	GLikely benign
Select item 2337009	NM_153247.4(SLC29A4):c.1222C>G (p.Leu408Val)	SLC29A4 (L394V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391112	NM_153247.4(SLC29A4):c.1238G>A (p.Arg413Gln)	SLC29A4 (R413Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657270	NM_153247.4(SLC29A4):c.1263C>T (p.Ser421=)	SLC29A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2309287	NM_153247.4(SLC29A4):c.1310C>T (p.Pro437Leu)	SLC29A4 (P423L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307457	NM_153247.4(SLC29A4):c.1325C>G (p.Ala442Gly)	SLC29A4 (A428G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164073	NM_153247.4(SLC29A4):c.1327C>T (p.Leu443Phe)	SLC29A4 (L429F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345949	NM_153247.4(SLC29A4):c.1331G>A (p.Arg444His)	SLC29A4 (R444H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164074	NM_153247.4(SLC29A4):c.1370G>C (p.Gly457Ala)	SLC29A4 (G443A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788418	NM_153247.4(SLC29A4):c.1383C>A (p.Gly461=)	SLC29A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2372649	NM_153247.4(SLC29A4):c.1407C>G (p.Ile469Met)	SLC29A4 (I469M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247032	NM_153247.4(SLC29A4):c.1529G>A (p.Arg510His)	SLC29A4 (R496H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657271	NM_153247.4(SLC29A4):c.1556C>T (p.Ala519Val)	SLC29A4 (A505V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 796250	NM_153247.4(SLC29A4):c.1562C>T (p.Thr521Ile)	SLC29A4 (T507I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2291662	NM_153247.4(SLC29A4):c.1571G>C (p.Gly524Ala)	SLC29A4 (G510A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319545	NM_153247.4(SLC29A4):c.1574C>G (p.Ser525Cys)	SLC29A4 (S525C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331937	NM_153247.4(SLC29A4):c.1582G>A (p.Ala528Thr)	SLC29A4 (A514T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685234	GRCh37/hg19 7p22.1(chr7:5341735-5412867)x1	SLC29A4, TNRC18	Copy number loss	not provided	GUncertain significance
Select item 2684480	GRCh37/hg19 7p22.1(chr7:5222869-5427128)x3	SLC29A4, TNRC18 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684479	GRCh37/hg19 7p22.1(chr7:4909470-5331753)x3	MMD2, RADIL +4 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

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