ClinVar for Gene (Select 6767) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322913	NM_003932.5(ST13):c.140A>G (p.Gln47Arg)	ST13 (Q47R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322912	NM_003932.5(ST13):c.734G>A (p.Arg245Gln)	ST13 (R235Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3170592	NM_003932.5(ST13):c.980A>T (p.Gln327Leu)	ST13 (Q317L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170590	NM_003932.5(ST13):c.758G>A (p.Arg253Gln)	ST13 (R243Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170589	NM_003932.5(ST13):c.74C>T (p.Thr25Ile)	ST13 (T25I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170588	NM_003932.5(ST13):c.10C>T (p.Arg4Cys)	ST13 (R4C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170587	NM_003932.5(ST13):c.1066A>C (p.Asn356His)	ST13 (N346H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170586	NM_003932.5(ST13):c.1021A>G (p.Asn341Asp)	ST13 (N331D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062459	GRCh37/hg19 22q13.1-13.2(chr22:39935185-41752098)x1	ADSL, CACNA1I +18 more	Copy number loss	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 2664506	GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3	ACO2, ADSL +25 more	Copy number gain	Syndromic craniosynostosis	GLikely pathogenic
Select item 2612164	NM_003932.5(ST13):c.436C>G (p.Arg146Gly)	ST13 (R136G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529716	NM_003932.5(ST13):c.623C>G (p.Ala208Gly)	ST13 (A198G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465936	NM_003932.5(ST13):c.277A>G (p.Thr93Ala)	ST13 (T83A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424165	NC_000022.10:g.(?_41074407)_(41489122_?)del	DNAJB7, EP300 +5 more	Deletion	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2406163	NM_003932.5(ST13):c.752T>C (p.Ile251Thr)	ST13 (I241T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391790	NM_003932.5(ST13):c.171A>T (p.Glu57Asp)	ST13 (E57D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370869	NM_003932.5(ST13):c.736G>A (p.Glu246Lys)	ST13 (E236K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303048	NM_003932.5(ST13):c.655G>A (p.Ala219Thr)	ST13 (A209T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300081	NM_003932.5(ST13):c.907G>A (p.Gly303Ser)	ST13 (G293S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299234	NM_003932.5(ST13):c.877T>C (p.Phe293Leu)	ST13 (F293L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297233	NM_003932.5(ST13):c.109A>C (p.Ser37Arg)	ST13 (S37R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293929	NM_003932.5(ST13):c.932C>G (p.Pro311Arg)	ST13 (P301R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290845	NM_003932.5(ST13):c.1106C>A (p.Ala369Glu)	ST13 (A369E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277833	NM_003932.5(ST13):c.303T>G (p.Asp101Glu)	ST13 (D91E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260202	NM_003932.5(ST13):c.64G>T (p.Val22Phe)	ST13 (V22F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251601	NM_003932.5(ST13):c.280G>A (p.Asp94Asn)	ST13 (D94N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224845	NM_003932.5(ST13):c.883G>A (p.Gly295Arg)	ST13 (G285R +1 more)	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 1808635	GRCh37/hg19 22q13.1-13.2(chr22:40131240-41556564)x1	ADSL, DNAJB7 +12 more	Copy number loss	not provided	GPathogenic
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 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816227	GRCh37/hg19 22q13.1-13.2(chr22:40665986-41370008)x3	MRTFA, SGSM3 +8 more	Copy number gain	not provided	GUncertain significance
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 714908	NM_003932.5(ST13):c.875A>G (p.Asn292Ser)	ST13 (N282S +1 more)	Single nucleotide variant (missense 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 393934	GRCh37/hg19 22q13.2(chr22:41223048-41278147)x3	DNAJB7, ST13 +1 more	Copy number gain	See cases	GUncertain significance
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 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 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 148595	GRCh38/hg38 22q13.1-13.2(chr22:40431454-40934348)x3	DNAJB7, LOC112695096 +23 more	Copy number gain	See cases	GUncertain significance
Select item 146589	GRCh38/hg38 22q13.2(chr22:40732506-40892856)x3	DNAJB7, LOC130067522 +5 more	Copy number gain	See cases	GBenign
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 145112	GRCh38/hg38 22q13.2(chr22:40769910-41360090)x3	CHADL, DNAJB7 +32 more	Copy number gain	See cases	GUncertain significance
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 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
Select item 57634	GRCh38/hg38 22q13.2(chr22:40832364-41076954)x1	DNAJB7, LOC130067524 +6 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 55