ClinVar for Gene (Select 6880) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324297	NM_003187.5(TAF9):c.406G>A (p.Ala136Thr)	AK6, TAF9 (A136T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324296	NM_003187.5(TAF9):c.442T>G (p.Leu148Val)	AK6, TAF9 (L148V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324295	NM_003187.5(TAF9):c.419C>T (p.Ala140Val)	AK6, TAF9 (A140V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173593	NM_003187.5(TAF9):c.427A>G (p.Ile143Val)	AK6, TAF9 (I143V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173591	NM_003187.5(TAF9):c.215G>A (p.Arg72Gln)	AK6, TAF9 (R72Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173590	NM_003187.5(TAF9):c.191C>G (p.Ala64Gly)	AK6, TAF9 (A64G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148880	GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	ADAMTS6, CDK7 +40 more	Copy number loss	See cases	GPathogenic
Select item 2622668	NM_003187.5(TAF9):c.343T>G (p.Leu115Val)	AK6, TAF9 (L115V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608790	NM_003187.5(TAF9):c.514G>A (p.Val172Ile)	AK6, TAF9 (V172I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545928	NM_003187.5(TAF9):c.712A>G (p.Asn238Asp)	AK6, TAF9 (N238D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316974	NM_003187.5(TAF9):c.173C>T (p.Ser58Leu)	AK6, TAF9 (S58L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527167	GRCh37/hg19 5q12.3-13.2(chr5:64049692-70306646)	ADAMTS6, CCDC125 +28 more	Copy number loss	not specified	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 617596	GRCh37/hg19 5q13.1-13.2(chr5:68278453-70369959)x3	CCDC125, CCNB1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 563075	GRCh37/hg19 5q12.3-13.2(chr5:65315606-68755816)x1	CD180, RAD17 +12 more	Copy number loss	not provided	GLikely pathogenic
Select item 442841	GRCh37/hg19 5q13.1-13.2(chr5:68313021-68847066)x4	CCDC125, CCNB1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442344	GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4	ADAMTS6, CCDC125 +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 154729	GRCh38/hg38 5q12.3-13.2(chr5:65976124-71317474)x3	AK6, CCDC125 +101 more	Copy number gain	See cases	GUncertain significance
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 57512	GRCh38/hg38 5q12.3-13.2(chr5:64932763-69495504)x1	ADAMTS6, AK6 +115 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 25