FKBPL[gene] - ClinVar

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Items: 33

	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 3036873	NM_022110.4(FKBPL):c.1030C>T (p.Leu344=)	FKBPL	Single nucleotide variant (synonymous variant)	FKBPL-related disorder	GLikely benign
Select item 2272051	NM_022110.4(FKBPL):c.975A>T (p.Glu325Asp)	FKBPL (E325D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278979	NM_022110.4(FKBPL):c.943A>G (p.Ile315Val)	FKBPL (I315V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3278980	NM_022110.4(FKBPL):c.886C>G (p.Gln296Glu)	FKBPL (Q296E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555729	NM_022110.4(FKBPL):c.801G>T (p.Gln267His)	FKBPL (Q267H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251247	NM_022110.4(FKBPL):c.692G>A (p.Arg231Gln)	FKBPL (R231Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538893	NM_022110.4(FKBPL):c.679G>A (p.Glu227Lys)	FKBPL (E227K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301117	NM_022110.4(FKBPL):c.608C>T (p.Thr203Ile)	FKBPL (T203I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495766	NM_022110.4(FKBPL):c.598G>C (p.Glu200Gln)	FKBPL (E200Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304958	NM_022110.4(FKBPL):c.562A>G (p.Thr188Ala)	FKBPL (T188A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280533	NM_022110.4(FKBPL):c.542C>G (p.Ser181Cys)	FKBPL (S181C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033307	NM_022110.4(FKBPL):c.490T>C (p.Leu164=)	FKBPL	Single nucleotide variant (synonymous variant)	FKBPL-related disorder	GLikely benign
Select item 2540911	NM_022110.4(FKBPL):c.488G>A (p.Cys163Tyr)	FKBPL (C163Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095355	NM_022110.4(FKBPL):c.400G>A (p.Gly134Arg)	FKBPL (G134R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370370	NM_022110.4(FKBPL):c.338A>G (p.His113Arg)	FKBPL (H113R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060339	NM_022110.4(FKBPL):c.268G>A (p.Ala90Thr)	FKBPL (A90T)	Single nucleotide variant (missense variant)	FKBPL-related disorder	GBenign
Select item 3095354	NM_022110.4(FKBPL):c.241C>G (p.His81Asp)	FKBPL (H81D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039678	NM_022110.4(FKBPL):c.229_240dup (p.Ser80_His81insSerHisLysSer)	FKBPL	Duplication	FKBPL-related disorder	GLikely benign
Select item 2279737	NM_022110.4(FKBPL):c.224G>T (p.Gly75Val)	FKBPL (G75V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041863	NM_022110.4(FKBPL):c.137C>G (p.Thr46Arg)	FKBPL (T46R)	Single nucleotide variant (missense variant)	FKBPL-related disorder	GLikely benign
Select item 2220529	NM_022110.4(FKBPL):c.115C>T (p.Pro39Ser)	FKBPL (P39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056060	NM_022110.4(FKBPL):c.83A>G (p.Asn28Ser)	FKBPL (N28S)	Single nucleotide variant (missense variant)	FKBPL-related disorder	GBenign
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 1527233	GRCh37/hg19 6p21.33-21.32(chr6:31952482-32243155)	AGER, AGPAT1 +13 more	Copy number gain	not specified	GUncertain significance
Select item 814808	GRCh37/hg19 6p21.33-21.32(chr6:31916915-32278000)x3	AGER, AGPAT1 +19 more	Copy number gain	not provided	GUncertain significance
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 686165	GRCh37/hg19 6p21.33-21.32(chr6:32027371-32448599)x3	AGER, AGPAT1 +13 more	Copy number gain	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 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 394634	GRCh37/hg19 6p21.33(chr6:32088893-32098036)x3	ATF6B, FKBPL	Copy number gain	See cases	GLikely benign
Select item 253700	GRCh37/hg19 6p21.33-21.32(chr6:32052479-32184403)x3	AGER, AGPAT1 +10 more	Copy number gain	See cases	GUncertain significance

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Items: 33