ClinVar for Gene (Select 468) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247951	NC_000022.10:g.(?_39306081)_(41904073_?)dup	ACO2, ADSL +42 more	Duplication	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3130798	NM_182810.3(ATF4):c.769C>T (p.Arg257Cys)	ATF4 (R257C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130797	NM_182810.3(ATF4):c.604G>C (p.Ala202Pro)	ATF4 (A202P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130796	NM_182810.3(ATF4):c.484C>T (p.Pro162Ser)	ATF4 (P162S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130795	NM_182810.3(ATF4):c.421A>G (p.Ile141Val)	ATF4 (I141V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130794	NM_182810.3(ATF4):c.401C>A (p.Pro134His)	ATF4 (P134H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130793	NM_182810.3(ATF4):c.373C>T (p.Pro125Ser)	ATF4 (P125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130792	NM_182810.3(ATF4):c.236T>G (p.Phe79Cys)	ATF4 (F79C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130791	NM_182810.3(ATF4):c.173C>T (p.Ser58Phe)	ATF4 (S58F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2624090	NM_182810.3(ATF4):c.329A>G (p.Asp110Gly)	ATF4 (D110G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602034	NM_182810.3(ATF4):c.313C>G (p.Leu105Val)	ATF4 (L105V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600418	NM_182810.3(ATF4):c.233C>T (p.Ala78Val)	ATF4 (A78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597734	NM_182810.3(ATF4):c.650A>G (p.Asn217Ser)	ATF4 (N217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550730	NM_182810.3(ATF4):c.804G>A (p.Met268Ile)	ATF4 (M268I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549695	NM_182810.3(ATF4):c.89G>A (p.Ser30Asn)	ATF4 (S30N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536724	NM_182810.3(ATF4):c.487C>T (p.Leu163Phe)	ATF4 (L163F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534995	NM_182810.3(ATF4):c.743C>T (p.Ser248Phe)	ATF4 (S248F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488340	NM_182810.3(ATF4):c.784G>T (p.Asp262Tyr)	ATF4 (D262Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461569	NM_182810.3(ATF4):c.685C>G (p.Leu229Val)	ATF4 (L229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454283	NM_182810.3(ATF4):c.796G>C (p.Glu266Gln)	ATF4 (E266Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2367813	NM_182810.3(ATF4):c.920C>T (p.Thr307Ile)	ATF4 (T307I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336619	NM_182810.3(ATF4):c.1051C>T (p.Pro351Ser)	ATF4 (P351S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310370	NM_182810.3(ATF4):c.596C>T (p.Ala199Val)	ATF4 (A199V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274090	NM_182810.3(ATF4):c.248A>T (p.Asp83Val)	ATF4 (D83V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249576	NM_182810.3(ATF4):c.353A>C (p.Asp118Ala)	ATF4 (D118A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231569	NM_182810.3(ATF4):c.364C>T (p.Leu122Phe)	ATF4 (L122F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214225	NM_182810.3(ATF4):c.485C>T (p.Pro162Leu)	ATF4 (P162L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809336	GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3	ACO2, ADSL +29 more	Copy number gain	not provided	GUncertain significance
Select item 1408743	NC_000022.10:g.(?_39621728)_(41077932_?)dup	SGSM3, SNORD139 +19 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 791375	NM_182810.3(ATF4):c.601G>A (p.Val201Ile)	ATF4 (V201I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 791218	NM_182810.3(ATF4):c.240C>T (p.Ser80=)	ATF4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 789500	NM_182810.3(ATF4):c.624A>G (p.Ile208Met)	ATF4 (I208M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 784891	NM_182810.3(ATF4):c.409A>T (p.Thr137Ser)	ATF4 (T137S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 783891	NM_182810.3(ATF4):c.966G>C (p.Glu322Asp)	ATF4 (E322D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783890	NM_182810.3(ATF4):c.600C>T (p.Tyr200=)	ATF4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783889	NM_182810.3(ATF4):c.404C>T (p.Pro135Leu)	ATF4 (P135L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780657	NM_182810.3(ATF4):c.772C>G (p.Pro258Ala)	ATF4 (P258A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775455	NM_182810.3(ATF4):c.971C>T (p.Ala324Val)	ATF4 (A324V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 736103	NM_182810.3(ATF4):c.912G>A (p.Glu304=)	ATF4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726550	NM_182810.3(ATF4):c.498C>T (p.Ser166=)	ATF4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725766	NM_182810.3(ATF4):c.7G>A (p.Glu3Lys)	ATF4 (E3K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 717867	NM_182810.3(ATF4):c.579G>A (p.Arg193=)	ATF4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709309	NM_182810.3(ATF4):c.393T>C (p.Asn131=)	ATF4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 58