7124[geneid] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 12390	NC_000006.12:g.31574699C>A	TNF	Single nucleotide variant	Alzheimer disease, protection against	Gprotective
Select item 12389	NC_000006.12:g.31574705C>T	TNF	Single nucleotide variant		Grisk factor
Select item 12387	NC_000006.12:g.31575186G>A	TNF	Single nucleotide variant	Malaria, cerebral, susceptibility to	Grisk factor
Select item 225964	NC_000006.12:g.31575254G>A	TNF	Single nucleotide variant	etanercept response - Efficacy	Gdrug response
Select item 1048804	NC_000006.12:g.31575324G>A	TNF	Single nucleotide variant	Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR5 +1 more	GUncertain significance
Select item 1697317	NM_000594.4(TNF):c.17T>A (p.Met6Lys)	TNF (M6K)	Single nucleotide variant (missense variant)	Migraine with or without aura, susceptibility to, 1	GUncertain significance
Select item 761640	NM_000594.4(TNF):c.39C>A (p.Ala13=)	TNF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 784495	NM_000594.4(TNF):c.87G>T (p.Arg29=)	TNF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2301391	NM_000594.4(TNF):c.121G>T (p.Val41Leu)	TNF (V41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781865	NM_000594.4(TNF):c.251C>T (p.Pro84Leu)	TNF (P84L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3180153	NM_000594.4(TNF):c.320G>T (p.Arg107Leu)	TNF (R107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 12386	NM_000594.4(TNF):c.322C>T (p.Arg108Trp)	TNF (R108W)	Single nucleotide variant (missense variant)	TNF receptor binding, altered	GPathogenic
Select item 2480132	NM_000594.4(TNF):c.350T>C (p.Val117Ala)	TNF (V117A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748239	NM_000594.4(TNF):c.354G>A (p.Glu118=)	TNF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723481	NM_000594.4(TNF):c.477C>T (p.Ile159=)	TNF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732409	NM_000594.4(TNF):c.489C>T (p.Tyr163=)	TNF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3327449	NM_000594.4(TNF):c.550G>C (p.Gly184Arg)	TNF (G184R)	Single nucleotide variant (missense variant)	not specified	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 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 1527232	GRCh37/hg19 6p21.33(chr6:31384577-31902308)	ABHD16A, AIF1 +40 more	Copy number gain	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
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 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 3362893	TNF, 20-BP INS, NT190	TNF	Insertion	IMMUNODEFICIENCY 127	GPathogenic
Select item 12385	L29S	TNF	Variation	TNF receptor binding, altered	GPathogenic

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Items: 28