ClinVar for Gene (Select 54899) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 3024767	NM_017771.5(PXK):c.531G>A (p.Val177=)	PXK	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2559888	NM_017771.5(PXK):c.730A>C (p.Lys244Gln)	PXK (K161Q +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540654	NM_017771.5(PXK):c.1225T>G (p.Phe409Val)	PXK (F272V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490309	NM_017771.5(PXK):c.389A>G (p.Glu130Gly)	PXK (E110G +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2462149	NM_017771.5(PXK):c.1192G>A (p.Asp398Asn)	PXK (D382N +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2423438	NC_000003.11:g.(?_57130421)_(58520833_?)del	ABHD6, ACOX2 +15 more	Deletion	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 2334114	NM_017771.5(PXK):c.1619C>T (p.Ser540Leu)	PXK (S506L +14 more)	Single nucleotide variant (synonymous variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2333281	NM_017771.5(PXK):c.1685G>C (p.Gly562Ala)	PXK (G424A +19 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2331129	NM_017771.5(PXK):c.307A>T (p.Ile103Phe)	PXK (I83F +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2275439	NM_017771.5(PXK):c.392T>A (p.Ile131Asn)	PXK (I114N +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2257336	NM_017771.5(PXK):c.1643G>A (p.Ser548Asn)	PXK (S464N +14 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2256469	NM_017771.5(PXK):c.1100T>C (p.Val367Ala)	PXK (V284A +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215854	NM_017771.5(PXK):c.430C>T (p.Pro144Ser)	PXK (P144S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210607	NM_017771.5(PXK):c.1018C>T (p.His340Tyr)	PXK (H323Y +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 980506	GRCh37/hg19 3p14.3(chr3:57912545-58357970)x3	PXK, RPP14 +4 more	Copy number gain	not provided	GUncertain significance
Select item 771351	NM_017771.5(PXK):c.1421A>T (p.Asn474Ile)	PXK (N337I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 718937	NM_017771.5(PXK):c.603G>A (p.Leu201=)	PXK	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 685671	GRCh37/hg19 3p14.3-14.1(chr3:57076136-65716956)x1	ABHD6, ACOX2 +34 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	ROBO1, ROBO2 +481 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +154 more	Copy number loss	See cases	GPathogenic
Select item 57729	GRCh38/hg38 3p14.3(chr3:57911290-58409928)x3	ABHD6, DNASE1L3 +30 more	Copy number gain	See cases	GUncertain significance
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +217 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 26