ClinVar for Gene (Select 6882) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3173397	NM_005643.4(TAF11):c.26C>G (p.Ser9Cys)	TAF11 (S9C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536772	NM_005643.4(TAF11):c.279G>T (p.Glu93Asp)	TAF11 (E93D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2311927	NM_005643.4(TAF11):c.593G>C (p.Gly198Ala)	TAF11 (G198A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2221062	NM_005643.4(TAF11):c.358C>A (p.Arg120Ser)	TAF11 (R120S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214377	NM_005643.4(TAF11):c.22C>A (p.Pro8Thr)	TAF11 (P8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 686425	GRCh37/hg19 6p21.31(chr6:34630244-35087148)x3	ANKS1A, BLTP3A +4 more	Copy number gain	not provided	GUncertain significance
Select item 686217	GRCh37/hg19 6p21.31(chr6:34807044-34890868)x1	ANKS1A, BLTP3A +1 more	Copy number loss	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 563172	GRCh37/hg19 6p21.31(chr6:34838141-35005084)x1	TAF11, ANKS1A +1 more	Copy number loss	not provided	GLikely benign
Select item 563171	GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3	UHRF1BP1, SRSF3 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 394944	GRCh37/hg19 6p21.31(chr6:34730464-34869018)x3	ANKS1A, BLTP3A +2 more	Copy number gain	See cases	GUncertain significance
Select item 394143	GRCh37/hg19 6p21.31(chr6:34840147-35022430)x3	ANKS1A, BLTP3A +1 more	Copy number gain	See cases	GUncertain significance
Select item 253678	GRCh37/hg19 6p21.31(chr6:34482666-34949939)x3	SNRPC, ANKS1A +5 more	Copy number gain	See cases	GUncertain significance
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic