G2E3[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 154183	GRCh38/hg38 14q12-13.1(chr14:28803988-33234266)x1	AKAP6, AP4S1 +73 more	Copy number loss	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 2512049	NM_017769.5(G2E3):c.53G>A (p.Arg18Gln)	G2E3 (R18Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2349577	NM_017769.5(G2E3):c.110A>C (p.Asn37Thr)	G2E3 (N37T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3097725	NM_017769.5(G2E3):c.624T>G (p.His208Gln)	G2E3 (H162Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097726	NM_017769.5(G2E3):c.664G>A (p.Ala222Thr)	G2E3 (A222T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206869	NM_017769.5(G2E3):c.689A>G (p.Tyr230Cys)	G2E3 (Y230C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402822	NM_017769.5(G2E3):c.716G>A (p.Arg239His)	G2E3 (R239H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354268	NM_017769.5(G2E3):c.911C>T (p.Pro304Leu)	G2E3 (P304L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605959	NM_017769.5(G2E3):c.941G>T (p.Cys314Phe)	G2E3 (C314F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355138	NM_017769.5(G2E3):c.961C>A (p.Pro321Thr)	G2E3 (P275T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280318	NM_017769.5(G2E3):c.964A>G (p.Lys322Glu)	G2E3 (K322E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591107	NM_017769.5(G2E3):c.1091T>G (p.Leu364Trp)	G2E3 (L364W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535198	NM_017769.5(G2E3):c.1102A>G (p.Lys368Glu)	G2E3 (K368E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328706	NM_017769.5(G2E3):c.1109A>G (p.Asn370Ser)	G2E3 (N324S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280316	NM_017769.5(G2E3):c.1208G>T (p.Ser403Ile)	G2E3 (S357I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097720	NM_017769.5(G2E3):c.1286C>G (p.Ser429Cys)	G2E3 (S383C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280317	NM_017769.5(G2E3):c.1460A>G (p.Asp487Gly)	G2E3 (D441G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592824	NM_017769.5(G2E3):c.1473C>G (p.Asp491Glu)	G2E3 (D445E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3097722	NM_017769.5(G2E3):c.1546G>C (p.Glu516Gln)	G2E3 (E470Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280315	NM_017769.5(G2E3):c.1570A>G (p.Ile524Val)	G2E3 (I478V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097723	NM_017769.5(G2E3):c.1633G>C (p.Gly545Arg)	G2E3 (G499R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097724	NM_017769.5(G2E3):c.1733C>T (p.Ala578Val)	G2E3 (A532V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223956	NM_017769.5(G2E3):c.1763A>C (p.Glu588Ala)	G2E3 (E542A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509009	NM_017769.5(G2E3):c.1777A>G (p.Lys593Glu)	G2E3 (K593E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280319	NM_017769.5(G2E3):c.1855G>T (p.Ala619Ser)	G2E3 (A573S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236483	NM_017769.5(G2E3):c.1975G>A (p.Asp659Asn)	G2E3 (D613N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257142	NM_017769.5(G2E3):c.2065A>G (p.Ile689Val)	G2E3 (I643V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268011	NM_017769.5(G2E3):c.2066T>G (p.Ile689Arg)	G2E3 (I689R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595092	NM_017769.5(G2E3):c.2077C>G (p.Leu693Val)	G2E3 (L693V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461406	NM_017769.5(G2E3):c.2110A>G (p.Ile704Val)	G2E3 (I704V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243950	NC_000014.8:g.(?_30046444)_(32635573_?)del	AP4S1, ARHGAP5 +10 more	Deletion	Spastic paraplegia	GPathogenic
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 2684716	GRCh37/hg19 14q12(chr14:30864574-31106393)x3	G2E3, SCFD1	Copy number gain	not provided	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1809348	GRCh37/hg19 14q12-13.1(chr14:24959823-33415359)x1	AKAP6, AP4S1 +19 more	Copy number loss	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 997966	GRCh37/hg19 14q12(chr14:27450705-31529481)x3	AP4S1, COCH +5 more	Copy number gain	Epilepsy +1 more	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 688414	GRCh37/hg19 14q12-13.1(chr14:30448939-35017859)x1	AKAP6, AP4S1 +14 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442398	GRCh37/hg19 14q11.2-12(chr14:24233721-31377083)x1	ADCY4, CARMIL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic

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Items: 53