2542[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 148415	GRCh38/hg38 11q23.3(chr11:118933083-119215291)x3	ABCG4, C2CD2L +40 more	Copy number gain	See cases	GLikely benign
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 302695	NM_001164277.2(SLC37A4):c.*418T>C	SLC37A4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 302696	NM_001164277.2(SLC37A4):c.*360C>G	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type I	GUncertain significance
Select item 877941	NM_001164277.2(SLC37A4):c.*338T>C	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type I	GUncertain significance
Select item 302697	NM_001164277.2(SLC37A4):c.*298C>T	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type I	GUncertain significance
Select item 302698	NM_001164277.2(SLC37A4):c.*283T>C	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type I	GUncertain significance
Select item 877942	NM_001164277.2(SLC37A4):c.*263T>C	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type I	GUncertain significance
Select item 878104	NM_001164277.2(SLC37A4):c.*204C>T	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type I	GUncertain significance
Select item 302699	NM_001164277.2(SLC37A4):c.*139G>T	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type I	GUncertain significance
Select item 302700	NM_001164277.2(SLC37A4):c.*138C>T	SLC37A4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 302701	NM_001164277.2(SLC37A4):c.*125G>C	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type I +1 more	GBenign
Select item 1704520	NM_001164277.2(SLC37A4):c.66_68del	SLC37A4	Deletion (3 prime UTR variant)	not specified	GUncertain significance
Select item 302702	NM_001164277.2(SLC37A4):c.*31C>T	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type I	GUncertain significance
Select item 1248913	NM_001164277.2(SLC37A4):c.*17G>A	SLC37A4	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 557397	NM_001164277.2(SLC37A4):c.*12G>A	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 392933	NM_001164277.2(SLC37A4):c.*11G>A	SLC37A4	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 551128	NM_001164277.2(SLC37A4):c.*7T>G	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 553127	NM_001164277.2(SLC37A4):c.*1AG[2]	SLC37A4	Microsatellite (3 prime UTR variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 557051	NM_001164277.2(SLC37A4):c.*5A>T	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 554801	NM_001164277.2(SLC37A4):c.*5A>G	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 302703	NM_001164277.2(SLC37A4):c.*5A>C	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type I	GUncertain significance
Select item 553281	NM_001164277.2(SLC37A4):c.*1A>G	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 646707	NM_001164277.2(SLC37A4):c.1287_1290del (p.Ter430GluextTer?)	SLC37A4	Deletion (frameshift variant)	Glucose-6-phosphate transport defect	GConflicting classifications of pathogenicity
Select item 2086074	NM_001164277.2(SLC37A4):c.1289G>A (p.Ter430=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2902343	NM_001164277.2(SLC37A4):c.1287G>A (p.Glu429=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 1411318	NM_001164277.2(SLC37A4):c.1287G>C (p.Glu429Asp)	SLC37A4 (E451D +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +2 more	GUncertain significance
Select item 652090	NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala)	SLC37A4 (E356A +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 550762	NM_001164277.2(SLC37A4):c.1283C>T (p.Ala428Val)	SLC37A4 (A428V +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 557760	NM_001164277.2(SLC37A4):c.1281G>A (p.Lys427=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2198205	NM_001164277.2(SLC37A4):c.1279_1280delinsGC (p.Lys427Ala)	SLC37A4 (K449A +2 more)	Indel (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 139194	NM_001164277.2(SLC37A4):c.1278G>A (p.Lys426=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect +2 more	GBenign
Select item 1895641	NM_001164277.2(SLC37A4):c.1277A>G (p.Lys426Arg)	SLC37A4 (K353R +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 139193	NM_001164277.2(SLC37A4):c.1275C>T (p.Ser425=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect +3 more	GBenign/Likely benign
Select item 2146815	NM_001164277.2(SLC37A4):c.1271T>A (p.Val424Glu)	SLC37A4 (V446E +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 556675	NM_001164277.2(SLC37A4):c.1270G>T (p.Val424Leu)	SLC37A4 (V424L +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 554428	NM_001164277.2(SLC37A4):c.1268G>T (p.Arg423Leu)	SLC37A4 (R423L +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 1184845	NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter)	SLC37A4 (R350* +2 more)	Single nucleotide variant (nonsense)	Congenital disorder of glycosylation, type IIw +2 more	GPathogenic/Likely pathogenic
Select item 1474565	NM_001164277.2(SLC37A4):c.1265G>C (p.Gly422Ala)	SLC37A4 (G349A +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 551733	NM_001164277.2(SLC37A4):c.1264G>A (p.Gly422Ser)	SLC37A4 (G422S +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 1477708	NM_001164277.2(SLC37A4):c.1258A>G (p.Lys420Glu)	SLC37A4 (K347E +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 3015279	NM_001164277.2(SLC37A4):c.1257C>T (p.Thr419=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 965659	NM_001164277.2(SLC37A4):c.1256C>T (p.Thr419Ile)	SLC37A4 (T441I +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 593207	NM_001164277.2(SLC37A4):c.1252C>T (p.Arg418Cys)	SLC37A4 (R418C +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +1 more	GUncertain significance
Select item 2904256	NM_001164277.2(SLC37A4):c.1249A>G (p.Ile417Val)	SLC37A4 (I344V +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 1121887	NM_001164277.2(SLC37A4):c.1248C>T (p.Asn416=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 6934	NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)	SLC37A4 (R415* +2 more)	Single nucleotide variant (nonsense)	Phosphate transport defect +2 more	GPathogenic/Likely pathogenic
Select item 1089016	NM_001164277.2(SLC37A4):c.1242A>G (p.Leu414=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 550481	NM_001164277.2(SLC37A4):c.1241T>C (p.Leu414Pro)	SLC37A4 (L414P +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 288044	NM_001164277.2(SLC37A4):c.1240C>T (p.Leu414=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect +2 more	GConflicting classifications of pathogenicity
Select item 2634960	NM_001164277.2(SLC37A4):c.1237C>T (p.Leu413Phe)	SLC37A4 (L340F +2 more)	Single nucleotide variant (missense variant)	SLC37A4-related disorder	GUncertain significance
Select item 2635013	NM_001164277.2(SLC37A4):c.1235T>C (p.Phe412Ser)	SLC37A4 (F339S +2 more)	Single nucleotide variant (missense variant)	SLC37A4-related disorder	GUncertain significance
Select item 2414008	NM_001164277.2(SLC37A4):c.1231_1232delinsGC (p.Phe411Ala)	SLC37A4 (F338A +2 more)	Indel (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 459621	NM_001164277.2(SLC37A4):c.1230C>T (p.Ala410=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 302704	NM_001164277.2(SLC37A4):c.1225G>A (p.Ala409Thr)	SLC37A4 (A409T +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type I +1 more	GConflicting classifications of pathogenicity
Select item 139192	NM_001164277.2(SLC37A4):c.1224G>A (p.Thr408=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect +3 more	GBenign
Select item 1607240	NM_001164277.2(SLC37A4):c.1221C>T (p.Ser407=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 215184	NM_001164277.2(SLC37A4):c.1220G>C (p.Ser407Thr)	SLC37A4 (S407T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2098496	NM_001164277.2(SLC37A4):c.1201_1218dup (p.Ala406_Ser407insGluValIleCysAlaAla)	SLC37A4	Duplication (inframe_insertion)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 2149467	NM_001164277.2(SLC37A4):c.1216G>C (p.Ala406Pro)	SLC37A4 (A333P +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 1113161	NM_001164277.2(SLC37A4):c.1215G>A (p.Ala405=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect +2 more	GLikely benign
Select item 565654	NM_001164277.2(SLC37A4):c.1214C>T (p.Ala405Val)	SLC37A4 (A405V +2 more)	Single nucleotide variant (missense variant)	Phosphate transport defect +2 more	GUncertain significance
Select item 2835376	NM_001164277.2(SLC37A4):c.1212T>A (p.Cys404Ter)	SLC37A4 (C404* +2 more)	Single nucleotide variant (nonsense)	Glucose-6-phosphate transport defect	GPathogenic
Select item 553213	NM_001164277.2(SLC37A4):c.1211G>C (p.Cys404Ser)	SLC37A4 (C404S +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 1090746	NM_001164277.2(SLC37A4):c.1209T>C (p.Ile403=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 552223	NM_001164277.2(SLC37A4):c.1208T>C (p.Ile403Thr)	SLC37A4 (I403T +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 1963160	NM_001164277.2(SLC37A4):c.1206G>A (p.Val402=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 1084365	NM_001164277.2(SLC37A4):c.1206G>T (p.Val402=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 3240510	NM_001164277.2(SLC37A4):c.1201del (p.Glu401fs)	SLC37A4 (E328fs +2 more)	Deletion (frameshift variant)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 554518	NM_001164277.2(SLC37A4):c.1201G>C (p.Glu401Gln)	SLC37A4 (E401Q +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 1105731	NM_001164277.2(SLC37A4):c.1197G>C (p.Val399=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 554808	NM_001164277.2(SLC37A4):c.1195G>A (p.Val399Met)	SLC37A4 (V399M +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 2830361	NM_001164277.2(SLC37A4):c.1190del (p.Phe397fs)	SLC37A4 (F397fs +2 more)	Deletion (frameshift variant)	Glucose-6-phosphate transport defect	GPathogenic
Select item 551003	NM_001164277.2(SLC37A4):c.1185A>G (p.Thr395=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 928687	NM_001164277.2(SLC37A4):c.1179G>A (p.Trp393Ter)	SLC37A4 (W320* +2 more)	Single nucleotide variant (nonsense)	Glucose-6-phosphate transport defect	GPathogenic
Select item 1076442	NM_001164277.2(SLC37A4):c.1178G>A (p.Trp393Ter)	SLC37A4 (W320* +2 more)	Single nucleotide variant (nonsense)	Glucose-6-phosphate transport defect	GPathogenic
Select item 2261914	NM_001164277.2(SLC37A4):c.1177T>G (p.Trp393Gly)	SLC37A4 (W393G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2897500	NM_001164277.2(SLC37A4):c.1176T>C (p.Ser392=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 1366825	NM_001164277.2(SLC37A4):c.1176T>G (p.Ser392Arg)	SLC37A4 (S414R +2 more)	Single nucleotide variant (missense variant)	Phosphate transport defect +3 more	GUncertain significance
Select item 554828	NM_001164277.2(SLC37A4):c.1176T>A (p.Ser392Arg)	SLC37A4 (S392R +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 2780238	NM_001164277.2(SLC37A4):c.1175del (p.Ser392fs)	SLC37A4 (S392fs +2 more)	Deletion (frameshift variant)	Glucose-6-phosphate transport defect +1 more	GPathogenic/Likely pathogenic
Select item 551534	NM_001164277.2(SLC37A4):c.1175G>A (p.Ser392Asn)	SLC37A4 (S392N +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +2 more	GUncertain significance
Select item 2772843	NM_001164277.2(SLC37A4):c.1172_1173insT (p.Ser392fs)	SLC37A4 (S319fs +2 more)	Insertion (frameshift variant)	Glucose-6-phosphate transport defect	GPathogenic
Select item 556637	NM_001164277.2(SLC37A4):c.1173C>T (p.Tyr391=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2188235	NM_001164277.2(SLC37A4):c.1170C>T (p.His390=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 215182	NM_001164277.2(SLC37A4):c.1168C>T (p.His390Tyr)	SLC37A4 (H390Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1125453	NM_001164277.2(SLC37A4):c.1167G>A (p.Lys389=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 554698	NM_001164277.2(SLC37A4):c.1165A>G (p.Lys389Glu)	SLC37A4 (K389E +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 556963	NM_001164277.2(SLC37A4):c.1164C>G (p.Ala388=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 650831	NM_001164277.2(SLC37A4):c.1159A>G (p.Ile387Val)	SLC37A4 (I314V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance

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