ClinVar for Gene (Select 23170) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
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 2684938	GRCh37/hg19 22q13.2(chr22:43225115-43777477)x3	ARFGAP3, BIK +6 more	Copy number gain	not provided	GUncertain significance
Select item 2653266	NM_015140.4(TTLL12):c.597G>A (p.Ser199=)	TTLL12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653265	NM_015140.4(TTLL12):c.711G>A (p.Glu237=)	TTLL12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653264	NM_015140.4(TTLL12):c.1272G>A (p.Ala424=)	TTLL12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615658	NM_015140.4(TTLL12):c.962C>T (p.Pro321Leu)	TTLL12 (P321L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602090	NM_015140.4(TTLL12):c.256G>T (p.Val86Leu)	TTLL12 (V86L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558719	NM_015140.4(TTLL12):c.620C>T (p.Pro207Leu)	TTLL12 (P207L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558335	NM_015140.4(TTLL12):c.191G>C (p.Gly64Ala)	TTLL12 (G64A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555424	NM_015140.4(TTLL12):c.1559A>G (p.Asp520Gly)	TTLL12 (D520G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547618	NM_015140.4(TTLL12):c.973C>T (p.Leu325Phe)	TTLL12 (L325F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2532999	NM_015140.4(TTLL12):c.879C>A (p.Asp293Glu)	TTLL12 (D293E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527430	NM_015140.4(TTLL12):c.491C>A (p.Ala164Asp)	TTLL12 (A164D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2520495	NM_015140.4(TTLL12):c.598C>T (p.Arg200Trp)	TTLL12 (R200W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513504	NM_015140.4(TTLL12):c.1312A>G (p.Ile438Val)	TTLL12 (I438V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512879	NM_015140.4(TTLL12):c.599G>A (p.Arg200Gln)	TTLL12 (R200Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511414	NM_015140.4(TTLL12):c.251G>A (p.Arg84Gln)	TTLL12 (R84Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2467042	NM_015140.4(TTLL12):c.14G>A (p.Arg5Gln)	LOC130067635, TTLL12 (R5Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457617	NM_015140.4(TTLL12):c.841G>A (p.Ala281Thr)	TTLL12 (A281T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410021	NM_015140.4(TTLL12):c.172C>G (p.His58Asp)	LOC130067634, TTLL12 (H58D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406896	NM_015140.4(TTLL12):c.1601A>T (p.Glu534Val)	TTLL12 (E534V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403197	NM_015140.4(TTLL12):c.1509C>G (p.Asn503Lys)	TTLL12 (N503K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402257	NM_015140.4(TTLL12):c.865A>C (p.Lys289Gln)	TTLL12 (K289Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401398	NM_015140.4(TTLL12):c.478A>G (p.Thr160Ala)	TTLL12 (T160A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2368200	NM_015140.4(TTLL12):c.1273C>T (p.Arg425Cys)	TTLL12 (R425C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367403	NM_015140.4(TTLL12):c.1019A>G (p.His340Arg)	TTLL12 (H340R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366583	NM_015140.4(TTLL12):c.1301G>A (p.Ser434Asn)	TTLL12 (S434N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2361124	NM_015140.4(TTLL12):c.10G>C (p.Glu4Gln)	LOC130067635, TTLL12 (E4Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350602	NM_015140.4(TTLL12):c.1459G>A (p.Val487Met)	TTLL12 (V487M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346954	NM_015140.4(TTLL12):c.1382G>A (p.Arg461Gln)	TTLL12 (R461Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341732	NM_015140.4(TTLL12):c.278C>T (p.Pro93Leu)	TTLL12 (P93L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306487	NM_015140.4(TTLL12):c.256G>A (p.Val86Met)	TTLL12 (V86M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305480	NM_015140.4(TTLL12):c.74C>T (p.Ala25Val)	TTLL12 (A25V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272701	NM_015140.4(TTLL12):c.28C>G (p.Arg10Gly)	LOC130067635, TTLL12 (R10G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272605	NM_015140.4(TTLL12):c.911T>C (p.Ile304Thr)	TTLL12 (I304T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272106	NM_015140.4(TTLL12):c.1057G>C (p.Gly353Arg)	TTLL12 (G353R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271726	NM_015140.4(TTLL12):c.1658G>A (p.Arg553Gln)	TTLL12 (R553Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2263059	NM_015140.4(TTLL12):c.77A>C (p.Gln26Pro)	TTLL12 (Q26P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234071	NM_015140.4(TTLL12):c.994G>A (p.Ala332Thr)	TTLL12 (A332T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223508	NM_015140.4(TTLL12):c.1677C>A (p.Phe559Leu)	TTLL12 (F559L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222678	NM_015140.4(TTLL12):c.1651A>G (p.Ile551Val)	TTLL12 (I551V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222163	NM_015140.4(TTLL12):c.363C>G (p.Asp121Glu)	TTLL12 (D121E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1803808	GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3	MIOX, MPPED1 +76 more	Copy number gain	not provided	GPathogenic
Select item 1526739	GRCh37/hg19 22q13.2-13.31(chr22:43451316-46662660)	ARHGAP8, ATXN10 +33 more	Copy number loss	not specified	GPathogenic
Select item 1526738	GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838)	A4GALT, ACR +82 more	Copy number loss	not specified	GPathogenic
Select item 1341218	GRCh37/hg19 22q13.2(chr22:42955615-43866280)x1	A4GALT, ARFGAP3 +12 more	Copy number loss	not provided	GUncertain significance
Select item 1341047	GRCh37/hg19 22q13.2(chr22:43474124-44159427)x3	BIK, EFCAB6 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	A4GALT, ACR +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1077183	Single allele	A4GALT, ARFGAP3 +19 more	Deletion	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic
Select item 997811	Single allele	WBP2NL, ARFGAP3 +21 more	Deletion	Intellectual disability	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 979609	GRCh37/hg19 22q13.2-13.31(chr22:43471921-44241041)x1	BIK, TSPO +7 more	Copy number loss	not provided	GUncertain significance
Select item 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +471 more	Deletion	Phelan-McDermid syndrome	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 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 784893	NM_015140.4(TTLL12):c.1749C>T (p.Val583=)	TTLL12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780201	NM_015140.4(TTLL12):c.1645-5C>A	TTLL12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 777730	NM_015140.4(TTLL12):c.252G>A (p.Arg84=)	TTLL12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 729653	NM_015140.4(TTLL12):c.1287C>G (p.Thr429=)	TTLL12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727507	NM_015140.4(TTLL12):c.1143C>T (p.Pro381=)	TTLL12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722869	NM_015140.4(TTLL12):c.630C>T (p.Ala210=)	TTLL12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722868	NM_015140.4(TTLL12):c.1854C>T (p.Tyr618=)	TTLL12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717125	NM_015140.4(TTLL12):c.1539G>A (p.Thr513=)	TTLL12	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 685140	GRCh37/hg19 22q13.2(chr22:42724042-43879561)x3	A4GALT, ARFGAP3 +14 more	Copy number gain	not provided	GUncertain significance
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 565054	GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1	A4GALT, ACR +83 more	Copy number loss	not provided	GPathogenic
Select item 565053	GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1	A4GALT, ACR +79 more	Copy number loss	not provided	GPathogenic
Select item 565052	GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1	ACR, ADM2 +77 more	Copy number loss	not provided	GPathogenic
Select item 564990	GRCh37/hg19 22q13.2(chr22:43472147-43723031)x3	TSPO, MCAT +4 more	Copy number gain	not provided	GLikely benign
Select item 443581	GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1	A4GALT, ACR +79 more	Copy number loss	See cases	GPathogenic
Select item 441707	GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1	ACR, ADM2 +77 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	A4GALT, ACO2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	C22orf15, C22orf23 +435 more	Copy number gain	See cases	GPathogenic
Select item 441574	GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1	A4GALT, ACR +91 more	Copy number loss	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	SLC5A1, SLC5A4 +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	A4GALT, ACO2 +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 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	SERHL2, SHANK3 +541 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC130067881, LOC130067882 +523 more	Copy number gain	See cases	GPathogenic
Select item 152914	GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	ADM2, ALG12 +481 more	Copy number loss	See cases	GPathogenic
Select item 148050	GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	LOC130067636, LOC130067637 +492 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	LOC130067673, LOC130067674 +580 more	Copy number loss	See cases	GPathogenic
Select item 147622	GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1	A4GALT, ALG12 +428 more	Copy number loss	See cases	GPathogenic
Select item 146215	GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	A4GALT, ARFGAP3 +303 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067848, LOC130067849 +687 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57945	GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	LOC132090656, LOC132090657 +495 more	Copy number gain	See cases	GPathogenic
Select item 57944	GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	LOC130067875, LOC130067876 +502 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC112695092, LOC112695093 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57669	GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	ACR, ADM2 +483 more	Copy number loss	See cases	GPathogenic

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