6514[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +304 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 901127	NM_000340.2(SLC2A2):c.*1531A>G	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 901128	NM_000340.2(SLC2A2):c.*1420T>C	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 901129	NM_000340.2(SLC2A2):c.*1349C>T	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GBenign
Select item 901665	NM_000340.2(SLC2A2):c.*1303T>C	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 344136	NM_000340.2(SLC2A2):c.*1260A>G	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 344137	NM_000340.2(SLC2A2):c.*1257C>T	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome +1 more	GBenign
Select item 344138	NM_000340.2(SLC2A2):c.*1222T>A	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome +1 more	GBenign
Select item 901666	NM_000340.2(SLC2A2):c.*1207G>A	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 901667	NM_000340.2(SLC2A2):c.*1201T>C	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 344139	NM_000340.2(SLC2A2):c.*1164T>C	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 344140	NM_000340.2(SLC2A2):c.*1086G>A	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 344141	NM_000340.2(SLC2A2):c.*1059del	SLC2A2	Deletion (3 prime UTR variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 903620	NM_000340.2(SLC2A2):c.*1004G>A	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 903621	NM_000340.2(SLC2A2):c.*960T>G	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 344142	NM_000340.2(SLC2A2):c.930_934del	SLC2A2	Deletion (3 prime UTR variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 903622	NM_000340.2(SLC2A2):c.*920A>C	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GBenign
Select item 344143	NM_000340.2(SLC2A2):c.*909C>T	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GBenign
Select item 344144	NM_000340.2(SLC2A2):c.*796T>C	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 344145	NM_000340.2(SLC2A2):c.*726T>C	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 344146	NM_000340.2(SLC2A2):c.*725G>C	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GBenign
Select item 903623	NM_000340.2(SLC2A2):c.*698T>A	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 344147	NM_000340.2(SLC2A2):c.*607del	SLC2A2	Deletion (3 prime UTR variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 344148	NM_000340.2(SLC2A2):c.*568A>T	SLC2A2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 344149	NM_000340.2(SLC2A2):c.*486T>C	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 344150	NM_000340.2(SLC2A2):c.*476T>C	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GBenign
Select item 344151	NM_000340.2(SLC2A2):c.*474A>G	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GBenign
Select item 344152	NM_000340.2(SLC2A2):c.*356A>T	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GBenign
Select item 900028	NM_000340.2(SLC2A2):c.*325T>A	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GBenign
Select item 344153	NM_000340.2(SLC2A2):c.*325del	SLC2A2	Deletion (3 prime UTR variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 900029	NM_000340.2(SLC2A2):c.*254T>G	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 344154	NM_000340.2(SLC2A2):c.*234C>A	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome +1 more	GBenign/Likely benign
Select item 901185	NM_000340.2(SLC2A2):c.*170G>A	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 901186	NM_000340.2(SLC2A2):c.*166G>A	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 344155	NM_000340.2(SLC2A2):c.*153A>G	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 344156	NM_000340.2(SLC2A2):c.*94del	SLC2A2	Deletion (3 prime UTR variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 901187	NM_000340.2(SLC2A2):c.*83A>T	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GConflicting classifications of pathogenicity
Select item 344157	NM_000340.2(SLC2A2):c.*11C>G	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 344158	NM_000340.2(SLC2A2):c.7_8dup (p.Ter525=)	SLC2A2	Duplication (no sequence alteration)	Fanconi-Bickel syndrome	GUncertain significance
Select item 255893	NM_000340.2(SLC2A2):c.*8del (p.Ter525=)	SLC2A2	Deletion (no sequence alteration)	Fanconi-Bickel syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2396806	NM_000340.2(SLC2A2):c.1570G>A (p.Val524Met)	SLC2A2 (V351M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1577713	NM_000340.2(SLC2A2):c.1560T>C (p.Ala520=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 549510	NM_000340.2(SLC2A2):c.1556G>A (p.Gly519Glu)	SLC2A2 (G519E +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome +1 more	GBenign
Select item 1400043	NM_000340.2(SLC2A2):c.1549T>C (p.Phe517Leu)	SLC2A2 (F398L +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2367826	NM_000340.2(SLC2A2):c.1530A>C (p.Lys510Asn)	SLC2A2 (K510N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2045779	NM_000340.2(SLC2A2):c.1506G>A (p.Lys502=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 2190444	NM_000340.2(SLC2A2):c.1490C>T (p.Ala497Val)	SLC2A2 (A497V +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 577091	NM_000340.2(SLC2A2):c.1489_1490delinsAA (p.Ala497Lys)	SLC2A2 (A497K +2 more)	Indel (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 2919488	NM_000340.2(SLC2A2):c.1471T>A (p.Ser491Thr)	SLC2A2 (S318T +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2880312	NM_000340.2(SLC2A2):c.1470G>A (p.Lys490=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 1438961	NM_000340.2(SLC2A2):c.1463A>G (p.Lys488Arg)	SLC2A2 (K488R +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2957166	NM_000340.2(SLC2A2):c.1440A>G (p.Thr480=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 130348	NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=)	SLC2A2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2415822	NM_000340.2(SLC2A2):c.1432C>T (p.Leu478=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 344159	NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val)	SLC2A2 (L478V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2147530	NM_000340.2(SLC2A2):c.1403T>G (p.Leu468Arg)	SLC2A2 (L468R +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 344160	NM_000340.2(SLC2A2):c.1402C>G (p.Leu468Val)	SLC2A2 (L468V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2832588	NM_000340.2(SLC2A2):c.1392T>A (p.Tyr464Ter)	SLC2A2 (Y291* +2 more)	Single nucleotide variant (nonsense)	Fanconi-Bickel syndrome	GPathogenic
Select item 1005473	NM_000340.2(SLC2A2):c.1388C>A (p.Pro463His)	SLC2A2 (P290H +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 1933489	NM_000340.2(SLC2A2):c.1375-20T>G	SLC2A2	Single nucleotide variant (intron variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2075800	NM_000340.2(SLC2A2):c.1374+7A>G	SLC2A2	Single nucleotide variant (intron variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 1502077	NM_000340.2(SLC2A2):c.1373_1374+2dup	SLC2A2	Duplication (splice donor variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 1903677	NM_000340.2(SLC2A2):c.1373C>T (p.Ala458Val)	SLC2A2 (A285V +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2885369	NM_000340.2(SLC2A2):c.1362C>T (p.Phe454=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 1045992	NM_000340.2(SLC2A2):c.1359T>A (p.Cys453Ter)	SLC2A2 (C280* +2 more)	Single nucleotide variant (nonsense)	Fanconi-Bickel syndrome	GPathogenic
Select item 522448	NM_000340.2(SLC2A2):c.1358_1359del (p.Cys453fs)	SLC2A2 (C453fs +2 more)	Microsatellite (frameshift variant)	Fanconi-Bickel syndrome	GPathogenic
Select item 1325084	NM_000340.2(SLC2A2):c.1356dup (p.Cys453fs)	SLC2A2 (C280fs +2 more)	Duplication (frameshift variant)	Fanconi-Bickel syndrome	GLikely pathogenic
Select item 1912310	NM_000340.2(SLC2A2):c.1349T>C (p.Val450Ala)	SLC2A2 (V277A +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 444009	NM_000340.2(SLC2A2):c.1331G>A (p.Trp444Ter)	SLC2A2 (W444* +2 more)	Single nucleotide variant (nonsense)	Type 2 diabetes mellitus	GAffects
Select item 2914072	NM_000340.2(SLC2A2):c.1329T>C (p.Asn443=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 1513536	NM_000340.2(SLC2A2):c.1298C>T (p.Pro433Leu)	SLC2A2 (P260L +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 344161	NM_000340.2(SLC2A2):c.1295G>A (p.Arg432His)	SLC2A2 (R432H +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 3319460	NM_000340.2(SLC2A2):c.1294C>T (p.Arg432Cys)	SLC2A2 (R259C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1355333	NM_000340.2(SLC2A2):c.1280del (p.Phe427fs)	SLC2A2 (F308fs +2 more)	Deletion (frameshift variant)	Fanconi-Bickel syndrome	GPathogenic
Select item 2736018	NM_000340.2(SLC2A2):c.1275G>A (p.Glu425=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 1159157	NM_000340.2(SLC2A2):c.1269G>T (p.Val423=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 16101	NM_000340.2(SLC2A2):c.1268T>A (p.Val423Glu)	SLC2A2 (V423E +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GPathogenic
Select item 2009854	NM_000340.2(SLC2A2):c.1267G>T (p.Val423Leu)	SLC2A2 (V250L +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 16096	NM_000340.2(SLC2A2):c.1259G>A (p.Trp420Ter)	SLC2A2 (W420* +2 more)	Single nucleotide variant (nonsense)	Fanconi-Bickel syndrome	GPathogenic
Select item 1912799	NM_000340.2(SLC2A2):c.1254C>T (p.Ile418=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 387979	NM_000340.2(SLC2A2):c.1251G>A (p.Pro417=)	SLC2A2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2812923	NM_000340.2(SLC2A2):c.1250C>A (p.Pro417Gln)	SLC2A2 (P298Q +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 16095	NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu)	SLC2A2 (P417L +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GPathogenic/Likely pathogenic
Select item 445147	NM_000340.2(SLC2A2):c.1246G>A (p.Gly416Ser)	SLC2A2 (G416S +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GLikely pathogenic
Select item 344162	NM_000340.2(SLC2A2):c.1221T>C (p.Phe407=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2191333	NM_000340.2(SLC2A2):c.1205T>C (p.Ile402Thr)	SLC2A2 (I283T +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 1959384	NM_000340.2(SLC2A2):c.1194T>C (p.Tyr398=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome	GLikely benign
Select item 1475879	NM_000340.2(SLC2A2):c.1191T>G (p.Ser397Arg)	SLC2A2 (S224R +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome	GUncertain significance
Select item 2815922	NM_000340.2(SLC2A2):c.1183del (p.Trp395fs)	SLC2A2 (W222fs +2 more)	Deletion (frameshift variant)	Fanconi-Bickel syndrome	GPathogenic

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