10195[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	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938326, LOC129938327 +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	LOC129938320, LOC129938321 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ABCC5, ABCC5-AS1 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	ZMAT3, ZNF639 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 153971	GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1	ABCC5, ABCC5-AS1 +205 more	Copy number loss	See cases	GLikely pathogenic
Select item 3238952	GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1	LOC121048724, LOC121048725 +160 more	Copy number loss	Esodeviation +7 more	GPathogenic
Select item 155230	GRCh38/hg38 3q27.1(chr3:183521497-184472038)x1	ABCC5, ABCC5-AS1 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 148845	GRCh38/hg38 3q27.1(chr3:183816693-184365094)x3	ABCC5, ABCC5-AS1 +63 more	Copy number gain	See cases	GUncertain significance
Select item 151178	GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1	ABCC5, ABCC5-AS1 +126 more	Copy number loss	See cases	GLikely pathogenic
Select item 57995	GRCh38/hg38 3q27.1(chr3:184200139-184656801)x3	ALG3, CAMK2N2 +35 more	Copy number gain	See cases	GPathogenic
Select item 60129	GRCh38/hg38 3q27.1(chr3:184239109-184391437)x1	EIF4G1, FAM131A +26 more	Copy number loss	See cases	GUncertain significance
Select item 147717	GRCh38/hg38 3q27.1(chr3:184242321-184389832)x3	ALG3, CAMK2N2 +24 more	Copy number gain	See cases	GBenign
Select item 344344	NM_005787.6(ALG3):c.*152C>T	ALG3	Single nucleotide variant (3 prime UTR variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 899645	NM_005787.6(ALG3):c.*108T>C	ALG3	Single nucleotide variant (3 prime UTR variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 344345	NM_005787.6(ALG3):c.*65C>T	ALG3	Single nucleotide variant (3 prime UTR variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 259884	NM_005787.6(ALG3):c.*50T>G	ALG3	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 3051622	NM_005787.6(ALG3):c.*5C>T	ALG3	Single nucleotide variant (3 prime UTR variant +1 more)	ALG3-related disorder	GLikely benign
Select item 1208663	NM_005787.6(ALG3):c.1280T>A (p.Phe427Tyr)	ALG3 (F379Y +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 511804	NM_005787.6(ALG3):c.1272G>A (p.Pro424=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 166676	NM_005787.6(ALG3):c.1271C>T (p.Pro424Leu)	ALG3 (P424L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 617476	NM_005787.6(ALG3):c.1263G>A (p.Trp421Ter)	ALG3 (W421* +1 more)	Single nucleotide variant (nonsense +1 more)	ALG3-congenital disorder of glycosylation	GPathogenic
Select item 2151586	NM_005787.6(ALG3):c.1254G>A (p.Leu418=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 962232	NM_005787.6(ALG3):c.1243G>A (p.Val415Ile)	ALG3 (V415I +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2741581	NM_005787.6(ALG3):c.1242C>T (p.Ala414=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-related disorder +1 more	GLikely benign
Select item 1129108	NM_005787.6(ALG3):c.1215C>T (p.Ser405=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2159626	NM_005787.6(ALG3):c.1212C>G (p.Cys404Trp)	ALG3 (C404W +2 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 376767	NM_005787.6(ALG3):c.1193C>T (p.Thr398Ile)	ALG3 (T398I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2000151	NM_005787.6(ALG3):c.1188dup (p.Asn397fs)	ALG3 (N397fs +1 more)	Duplication (frameshift variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 2780035	NM_005787.6(ALG3):c.1188G>A (p.Trp396Ter)	ALG3 (W396* +2 more)	Single nucleotide variant (nonsense +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 390883	NM_005787.6(ALG3):c.1176C>T (p.Ile392=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 729432	NM_005787.6(ALG3):c.1170G>T (p.Gly390=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 344346	NM_005787.6(ALG3):c.1156T>C (p.Leu386=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 3033031	NM_005787.6(ALG3):c.1154+5C>T	ALG3	Single nucleotide variant (intron variant)	ALG3-related disorder	GLikely benign
Select item 1184850	NM_005787.6(ALG3):c.1154G>C (p.Arg385Thr)	ALG3 (R337T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	ALG3-congenital disorder of glycosylation	GPathogenic
Select item 344347	NM_005787.6(ALG3):c.1146C>T (p.His382=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 2071696	NM_005787.6(ALG3):c.1132C>T (p.Arg378Cys)	ALG3 (R330C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 734730	NM_005787.6(ALG3):c.1128T>C (p.Pro376=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 992319	NM_005787.6(ALG3):c.1108T>C (p.Tyr370His)	ALG3 (Y322H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 514072	NM_005787.6(ALG3):c.1107C>T (p.Pro369=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation +1 more	GLikely benign
Select item 344348	NM_005787.6(ALG3):c.1084G>A (p.Val362Ile)	ALG3 (V362I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2058076	NM_005787.6(ALG3):c.1083C>T (p.Tyr361=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 900788	NM_005787.6(ALG3):c.1077G>A (p.Gln359=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1053045	NM_005787.6(ALG3):c.1061G>A (p.Arg354His)	ALG3 (R306H +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GPathogenic
Select item 2734602	NM_005787.6(ALG3):c.1060C>T (p.Arg354Cys)	ALG3 (R306C +2 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely pathogenic
Select item 617513	NM_005787.6(ALG3):c.1037A>G (p.Asn346Ser)	ALG3 (N346S +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GPathogenic
Select item 548540	NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile)	ALG3 (L342I +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 900789	NM_005787.6(ALG3):c.1015G>A (p.Val339Ile)	ALG3 (V339I +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 2186442	NM_005787.6(ALG3):c.1014C>A (p.Ile338=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1982162	NM_005787.6(ALG3):c.1014C>T (p.Ile338=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1202996	NM_005787.6(ALG3):c.1010-137G>A	ALG3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218381	NM_005787.6(ALG3):c.1010-292C>T	ALG3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182883	NM_005787.6(ALG3):c.1009+188G>A	ALG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228028	NM_005787.6(ALG3):c.1009+162G>T	ALG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2716661	NM_005787.6(ALG3):c.1009+14T>G	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 521583	NM_005787.6(ALG3):c.991C>T (p.Gln331Ter)	ALG3 (Q331* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 1310928	NM_005787.6(ALG3):c.985C>G (p.Pro329Ala)	ALG3 (P281A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 344349	NM_005787.6(ALG3):c.985C>T (p.Pro329Ser)	ALG3 (P329S +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1486904	NM_005787.6(ALG3):c.977G>A (p.Arg326Lys)	ALG3 (R278K +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 900790	NM_005787.6(ALG3):c.971C>G (p.Ser324Cys)	ALG3 (S276C +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 720786	NM_005787.6(ALG3):c.954G>A (p.Ser318=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GBenign
Select item 996585	NM_005787.6(ALG3):c.953C>T (p.Ser318Leu)	ALG3 (S270L +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 2060733	NM_005787.6(ALG3):c.945T>C (p.Ser315=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-related disorder +1 more	GLikely benign
Select item 2006664	NM_005787.6(ALG3):c.944G>A (p.Ser315Asn)	ALG3 (S267N +2 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 344350	NM_005787.6(ALG3):c.933-4C>T	ALG3	Single nucleotide variant (intron variant)	ALG3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2696660	NM_005787.6(ALG3):c.933-20_933-17del	ALG3	Deletion (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1186996	NM_005787.6(ALG3):c.933-29T>C	ALG3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940955	NM_005787.6(ALG3):c.932+10G>A	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1487042	NM_005787.6(ALG3):c.929A>G (p.His310Arg)	ALG3 (H310R +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 3076030	NM_005787.6(ALG3):c.921C>A (p.Cys307Ter)	ALG3 (C259* +2 more)	Single nucleotide variant (nonsense +1 more)	Congenital disorder of glycosylation	GLikely pathogenic
Select item 2977592	NM_005787.6(ALG3):c.918C>T (p.Leu306=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 521582	NM_005787.6(ALG3):c.914C>A (p.Ala305Asp)	ALG3 (A305D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2059983	NM_005787.6(ALG3):c.890A>G (p.His297Arg)	ALG3 (H249R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2882534	NM_005787.6(ALG3):c.888C>T (p.Ala296=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1519679	NM_005787.6(ALG3):c.863C>T (p.Ala288Val)	ALG3 (A240V +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 2232782	NM_005787.6(ALG3):c.857A>T (p.His286Leu)	ALG3 (H251L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2654312	NM_005787.6(ALG3):c.849C>T (p.Leu283=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 344351	NM_005787.6(ALG3):c.846G>A (p.Ala282=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 344352	NM_005787.6(ALG3):c.845C>T (p.Ala282Val)	ALG3 (A282V +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1437563	NM_005787.6(ALG3):c.812A>G (p.His271Arg)	ALG3 (H223R +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 464045	NM_005787.6(ALG3):c.799C>A (p.Gln267Lys)	ALG3 (Q267K +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1678059	NM_005787.6(ALG3):c.797G>A (p.Arg266His)	ALG3 (R218H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1184848	NM_005787.6(ALG3):c.796C>T (p.Arg266Cys)	ALG3 (R218C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 992318	NM_005787.6(ALG3):c.790C>T (p.Leu264Phe)	ALG3 (L216F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 902453	NM_005787.6(ALG3):c.778C>T (p.Arg260Cys)	ALG3 (R212C +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 344353	NM_005787.6(ALG3):c.777C>T (p.Ser259=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 849798	NM_005787.6(ALG3):c.763A>C (p.Ser255Arg)	ALG3 (S255R +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 427137	NM_005787.6(ALG3):c.752T>C (p.Leu251Pro)	ALG3 (L251P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1184847	NM_005787.6(ALG3):c.749T>A (p.Leu250Gln)	ALG3 (L202Q +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 259885	NM_005787.6(ALG3):c.727-50T>C	ALG3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 741457	NM_005787.6(ALG3):c.726+10T>A	ALG3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2721808	NM_005787.6(ALG3):c.717T>G (p.Ala239=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign

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