ClinVar for Gene (Select 10478) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319195	NM_006358.4(SLC25A17):c.414T>G (p.Asn138Lys)	SLC25A17 (N101K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319193	NM_006358.4(SLC25A17):c.322G>A (p.Gly108Arg)	SLC25A17 (G108R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3319192	NM_006358.4(SLC25A17):c.191C>T (p.Pro64Leu)	SLC25A17 (P27L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3319191	NM_006358.4(SLC25A17):c.534T>G (p.Asn178Lys)	SLC25A17 (N105K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319190	NM_006358.4(SLC25A17):c.472C>G (p.Arg158Gly)	SLC25A17 (R121G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319189	NM_006358.4(SLC25A17):c.178G>A (p.Gly60Arg)	SLC25A17 (G60R +1 more)	Single nucleotide variant (missense variant +2 more)	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 3163599	NM_006358.4(SLC25A17):c.733G>A (p.Gly245Arg)	SLC25A17 (G172R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163598	NM_006358.4(SLC25A17):c.59G>A (p.Ser20Asn)	SLC25A17 (S20N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3163597	NM_006358.4(SLC25A17):c.148A>G (p.Met50Val)	SLC25A17 (M13V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3163596	NM_006358.4(SLC25A17):c.139A>G (p.Thr47Ala)	SLC25A17 (T47A +1 more)	Single nucleotide variant (missense variant +2 more)	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 2621088	NM_006358.4(SLC25A17):c.488C>T (p.Ser163Leu)	SLC25A17 (S90L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2595024	NM_006358.4(SLC25A17):c.626G>C (p.Gly209Ala)	SLC25A17 (G172A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591789	NM_006358.4(SLC25A17):c.320T>C (p.Val107Ala)	SLC25A17 (V107A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2562801	NM_006358.4(SLC25A17):c.236A>G (p.Asn79Ser)	SLC25A17 (N42S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2536592	NM_006358.4(SLC25A17):c.641C>T (p.Ala214Val)	SLC25A17 (A214V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523506	NM_006358.4(SLC25A17):c.257T>C (p.Phe86Ser)	SLC25A17 (F86S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2485362	NM_006358.4(SLC25A17):c.457T>C (p.Phe153Leu)	SLC25A17 (F116L +2 more)	Single nucleotide variant (missense variant +1 more)	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 2380958	NM_006358.4(SLC25A17):c.619A>G (p.Ile207Val)	SLC25A17 (I134V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352654	NM_006358.4(SLC25A17):c.851T>C (p.Met284Thr)	SLC25A17 (M247T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350832	NM_006358.4(SLC25A17):c.631G>A (p.Val211Ile)	SLC25A17 (V174I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2321885	NM_006358.4(SLC25A17):c.911C>A (p.Ala304Glu)	SLC25A17 (A267E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289151	NM_006358.4(SLC25A17):c.814G>A (p.Ala272Thr)	SLC25A17 (A272T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272084	NM_006358.4(SLC25A17):c.511C>T (p.Pro171Ser)	SLC25A17 (P171S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271155	NM_006358.4(SLC25A17):c.410G>A (p.Arg137Lys)	SLC25A17 (R137K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258330	NM_006358.4(SLC25A17):c.137A>G (p.Lys46Arg)	SLC25A17 (K9R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2238887	NM_006358.4(SLC25A17):c.847C>T (p.Leu283Phe)	SLC25A17 (L210F +2 more)	Single nucleotide variant (missense variant +1 more)	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 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 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

ClinVar

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Germline classification

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Molecular consequence

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Links from Gene

Items: 54