ClinVar for Gene (Select 51460) - ClinVar

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Links from Gene

Items: 20

	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 2653900	NM_016329.4(SFMBT1):c.1440C>T (p.His480=)	SFMBT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2427145	NC_000003.11:g.(?_52109903)_(53164416_?)del	ALAS1, BAP1 +28 more	Deletion	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2423375	NC_000003.11:g.(?_52018081)_(53845433_?)del	ACY1, ALAS1 +35 more	Deletion	not provided	GUncertain significance
Select item 1808546	GRCh37/hg19 3p21.1(chr3:52783975-53418893)x3	DCP1A, ITIH1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1808533	GRCh37/hg19 3p21.1(chr3:52780509-53418869)x3	DCP1A, ITIH1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1527019	GRCh37/hg19 3p21.1(chr3:52968525-53450333)	DCP1A, PRKCD +3 more	Copy number gain	not specified	GUncertain significance
Select item 814444	GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3	ABHD14A, ABHD14B +48 more	Copy number gain	not provided	GUncertain significance
Select item 785053	NM_016329.4(SFMBT1):c.462T>C (p.Asn154=)	SFMBT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775878	NM_016329.4(SFMBT1):c.941G>T (p.Arg314Leu)	SFMBT1 (R314L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770533	NM_016329.4(SFMBT1):c.819T>C (p.His273=)	SFMBT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770532	NM_016329.4(SFMBT1):c.1360C>T (p.Arg454Cys)	SFMBT1 (R454C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769604	NM_016329.4(SFMBT1):c.999C>T (p.Phe333=)	SFMBT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +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 156849	NM_016329.4(SFMBT1):c.-130-31769_-130-30020del	SFMBT1	Deletion (intron variant)	Large for gestational age +2 more	Gnot provided
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 20