2548[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 178711	NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=)	CCDC40, GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +4 more	GBenign
Select item 162852	NM_017950.4(CCDC40):c.3210A>G (p.Thr1070=)	CCDC40, GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +4 more	GBenign
Select item 890468	NM_017950.4(CCDC40):c.3212G>A (p.Arg1071His)	CCDC40, GAA (R1071H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 95880	NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met)	CCDC40, GAA (V1114M)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +4 more	GBenign/Likely benign
Select item 178712	NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=)	GAA, CCDC40	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 162853	NM_017950.4(CCDC40):c.*15T>C	CCDC40, GAA	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia +4 more	GBenign
Select item 325752	NM_017950.4(CCDC40):c.*149T>C	CCDC40, GAA	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type II +3 more	GBenign
Select item 325753	NM_017950.4(CCDC40):c.*186A>C	GAA, CCDC40	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 325758	NM_017950.4(CCDC40):c.*265C>T	CCDC40, GAA	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 325765	NM_017950.4(CCDC40):c.*654A>C	CCDC40, GAA	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 1178197	NC_000017.11:g.80101429C>T	GAA, LOC130061897	Single nucleotide variant	not provided	GBenign
Select item 1196474	NC_000017.11:g.80101448G>C	GAA, LOC130061897	Single nucleotide variant	not provided	GLikely benign
Select item 1342753	NC_000017.11:g.80101562C>T	GAA, LOC130061897	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 325767	NM_000152.5(GAA):c.-338C>G	LOC130061897, CCDC40 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 890550	NM_000152.5(GAA):c.-325C>T	CCDC40, GAA +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 15 +1 more	GUncertain significance
Select item 514097	NM_000152.5(GAA):c.-317C>T	GAA, LOC130061897	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 325768	NM_000152.5(GAA):c.-312C>T	GAA, LOC130061897	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3030825	NM_000152.5(GAA):c.-311G>C	GAA, LOC130061897	Single nucleotide variant (5 prime UTR variant +1 more)	GAA-related disorder	GLikely benign
Select item 3344666	NM_000152.5(GAA):c.-292C>A	GAA, LOC130061897	Single nucleotide variant (5 prime UTR variant +1 more)	GAA-related disorder	GLikely benign
Select item 509412	NM_000152.5(GAA):c.-284G>A	GAA, LOC130061897	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 325769	NM_000152.5(GAA):c.-260G>C	CCDC40, GAA +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 325770	NM_000152.5(GAA):c.-236C>T	GAA, LOC130061897	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease, type II	GUncertain significance
Select item 325771	NM_000152.5(GAA):c.-178G>A	CCDC40, GAA +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 384414	NM_000152.5(GAA):c.-116C>T	GAA	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 506864	NM_000152.5(GAA):c.-104C>T	GAA	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 669043	NM_000152.5(GAA):c.-103G>A	GAA	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 891115	NM_000152.5(GAA):c.-75C>G	CCDC40, GAA	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GLikely benign
Select item 325772	NM_000152.5(GAA):c.-62A>C	GAA	Single nucleotide variant (5 prime UTR variant +2 more)	Glycogen storage disease, type II	GUncertain significance
Select item 3036795	NM_000152.5(GAA):c.-44G>A	GAA	Single nucleotide variant (5 prime UTR variant +2 more)	GAA-related disorder	GLikely benign
Select item 389474	NM_000152.5(GAA):c.-37A>G	GAA	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 507758	NM_000152.5(GAA):c.-33+17C>T	GAA	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1237434	NM_000152.5(GAA):c.-33+219G>C	GAA, LOC130061898	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2745468	NM_000152.5(GAA):c.-32-385_143del	GAA	Deletion (splice acceptor variant +1 more)	Glycogen storage disease, type II	GPathogenic
Select item 677625	NM_000152.5(GAA):c.-32-181C>T	GAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196494	NM_000152.5(GAA):c.-32-84G>A	GAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 619189	NM_000152.5(GAA):c.-32-18C>G	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease type II, infantile	GUncertain significance
Select item 3051987	NM_000152.5(GAA):c.-32-17G>A	GAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1980660	NM_000152.5(GAA):c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC	GAA	Indel (intron variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 1025528	NM_000152.5(GAA):c.-32-13T>C	GAA	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 647475	NC_000017.10:g.(?_78078341)_(78093140_?)dup	GAA	Duplication	Glycogen storage disease, type II	GUncertain significance
Select item 526558	NC_000017.10:g.(?_78078341)_(78093150_?)dup	GAA	Duplication	Glycogen storage disease, type II	GUncertain significance
Select item 526556	NC_000017.11:g.(?_80104542)_(80105914_?)del	GAA	Deletion	Glycogen storage disease, type II	GPathogenic
Select item 4027	NM_000152.5(GAA):c.-32-13T>G	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 1312131	NM_000152.5(GAA):c.-32-5C>G	GAA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 507529	NM_000152.5(GAA):c.-32-5C>T	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 382800	NM_000152.5(GAA):c.-32-4G>A	GAA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2070234	NM_000152.5(GAA):c.-32-3del	GAA	Deletion (intron variant)	Glycogen storage disease, type II	GUncertain significance
Select item 1500801	NM_000152.5(GAA):c.-32-3C>T	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GUncertain significance
Select item 371622	NM_000152.5(GAA):c.-32-3C>A	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 972817	NM_000152.5(GAA):c.-32-2A>G	GAA	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type II	GPathogenic/Likely pathogenic
Select item 557429	NM_000152.5(GAA):c.-32-1G>C	GAA	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 671936	NM_000152.5(GAA):c.-18T>A	GAA	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 672170	NM_000152.5(GAA):c.-9T>C	GAA	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 283494	NM_000152.5(GAA):c.-2C>T	GAA	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 984798	NM_000152.5(GAA):c.1A>T (p.Met1Leu)	GAA (M1L)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 188785	NM_000152.5(GAA):c.1A>G (p.Met1Val)	GAA (M1V)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type II	GPathogenic/Likely pathogenic
Select item 984802	NM_000152.5(GAA):c.2T>C (p.Met1Thr)	GAA (M1T)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 3367095	NM_000152.5(GAA):c.3G>T (p.Met1Ile)	GAA (M1I)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type II	GLikely pathogenic
Select item 1322969	NM_000152.5(GAA):c.3_4delinsTT (p.Met1_Gly2delinsIleTer)	GAA	Indel (nonsense +1 more)	not provided	GPathogenic
Select item 972816	NM_000152.5(GAA):c.3G>A (p.Met1Ile)	GAA (M1I)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type II	GPathogenic/Likely pathogenic
Select item 560377	NM_000152.5(GAA):c.4G>T (p.Gly2Ter)	GAA (G2*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 500929	NM_000152.5(GAA):c.5G>C (p.Gly2Ala)	GAA (G2A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 837058	NM_000152.5(GAA):c.8T>C (p.Val3Ala)	GAA (V3A)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 188475	NM_000152.5(GAA):c.11G>A (p.Arg4Lys)	GAA (R4K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1396416	NM_000152.5(GAA):c.16C>T (p.Pro6Ser)	GAA (P6S)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 650517	NM_000152.5(GAA):c.17C>A (p.Pro6Gln)	GAA (P6Q)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 499674	NM_000152.5(GAA):c.17C>T (p.Pro6Leu)	GAA (P6L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 598195	NM_000152.5(GAA):c.18G>A (p.Pro6=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 593230	NM_000152.5(GAA):c.18G>C (p.Pro6=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 1629636	NM_000152.5(GAA):c.21C>T (p.Pro7=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GLikely benign
Select item 2190686	NM_000152.5(GAA):c.24C>T (p.Cys8=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 283636	NM_000152.5(GAA):c.25T>C (p.Ser9Pro)	GAA (S9P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1015157	NM_000152.5(GAA):c.26C>T (p.Ser9Phe)	GAA (S9F)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 808325	NM_000152.5(GAA):c.26C>G (p.Ser9Cys)	GAA (S9C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976296	NM_000152.5(GAA):c.29A>T (p.His10Leu)	GAA (H10L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 2806496	NM_000152.5(GAA):c.30C>T (p.His10=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 456419	NM_000152.5(GAA):c.31C>T (p.Arg11Trp)	GAA (R11W)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 456418	NM_000152.5(GAA):c.31C>G (p.Arg11Gly)	GAA (R11G)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 1058137	NM_000152.5(GAA):c.32G>T (p.Arg11Leu)	GAA (R11L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 255362	NM_000152.5(GAA):c.32G>A (p.Arg11Gln)	GAA (R11Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 526554	NM_000152.5(GAA):c.36C>T (p.Leu12=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 2446461	NM_000152.5(GAA):c.40_47del (p.Ala14fs)	GAA (A14fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 1433922	NM_000152.5(GAA):c.41C>T (p.Ala14Val)	GAA (A14V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 1085752	NM_000152.5(GAA):c.42C>T (p.Ala14=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 797238	NM_000152.5(GAA):c.42C>G (p.Ala14=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 582226	NM_000152.5(GAA):c.43G>A (p.Val15Ile)	GAA (V15I)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 1620515	NM_000152.5(GAA):c.48C>T (p.Cys16=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 1511437	NM_000152.5(GAA):c.49G>T (p.Ala17Ser)	GAA (A17S)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 456423	NM_000152.5(GAA):c.49G>A (p.Ala17Thr)	GAA (A17T)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 1720069	NM_000152.5(GAA):c.52C>T (p.Leu18Phe)	GAA (L18F)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 1453228	NM_000152.5(GAA):c.54C>G (p.Leu18=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 325773	NM_000152.5(GAA):c.54C>T (p.Leu18=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GUncertain significance
Select item 657111	NM_000152.5(GAA):c.55G>A (p.Val19Met)	GAA (V19M)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +2 more	GUncertain significance
Select item 555040	NM_000152.5(GAA):c.55del (p.Val19fs)	GAA (V19fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 2147585	NM_000152.5(GAA):c.58T>A (p.Ser20Thr)	GAA (S20T)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance

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