29931[HGNC] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
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 2535112	NM_014366.5(GNL3):c.11C>T (p.Pro4Leu)	GNL3 (P4L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3281803	NM_014366.5(GNL3):c.53G>A (p.Arg18Gln)	GNL3 (R18Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222799	NM_014366.5(GNL3):c.176C>T (p.Ala59Val)	GNL3 (A47V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281804	NM_014366.5(GNL3):c.242A>G (p.Asp81Gly)	GNL3 (D81G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281802	NM_014366.5(GNL3):c.260A>G (p.Glu87Gly)	GNL3 (E75G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2592665	NM_014366.5(GNL3):c.362C>T (p.Ser121Leu)	GNL3 (S109L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310261	NM_014366.5(GNL3):c.503G>A (p.Ser168Asn)	GNL3 (S156N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485560	NM_014366.5(GNL3):c.527T>A (p.Ile176Lys)	GNL3 (I164K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604614	NM_014366.5(GNL3):c.656G>A (p.Arg219His)	GNL3 (R207H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369731	NM_014366.5(GNL3):c.677C>T (p.Ala226Val)	GNL3 (A214V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2269793	NM_014366.5(GNL3):c.682C>T (p.Pro228Ser)	GNL3 (P216S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100651	NM_014366.5(GNL3):c.694G>A (p.Glu232Lys)	GNL3 (E220K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100652	NM_014366.5(GNL3):c.727C>T (p.Leu243Phe)	GNL3 (L243F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558836	NM_014366.5(GNL3):c.797G>A (p.Gly266Glu)	GNL3 (G254E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232019	NM_014366.5(GNL3):c.929T>A (p.Ile310Asn)	GNL3 (I310N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591846	NM_014366.5(GNL3):c.931G>A (p.Val311Ile)	GNL3 (V299I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225907	NM_014366.5(GNL3):c.998C>T (p.Pro333Leu)	GNL3 (P321L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613742	NM_014366.5(GNL3):c.1018A>C (p.Ile340Leu)	GNL3 (I328L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559489	NM_014366.5(GNL3):c.1099G>C (p.Val367Leu)	GNL3 (V367L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2480954	NM_014366.5(GNL3):c.1216C>T (p.Pro406Ser)	GNL3 (P394S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310144	NM_014366.5(GNL3):c.1268T>A (p.Met423Lys)	GNL3 (M411K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279035	NM_014366.5(GNL3):c.1290A>C (p.Glu430Asp)	GNL3 (E430D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100649	NM_014366.5(GNL3):c.1372G>A (p.Gly458Ser)	GNL3 (G446S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609861	NM_014366.5(GNL3):c.1498G>A (p.Asp500Asn)	GNL3 (D500N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355206	NM_014366.5(GNL3):c.1506C>G (p.Asn502Lys)	GNL3 (N490K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3100650	NM_014366.5(GNL3):c.1550C>G (p.Ser517Cys)	GNL3 (S505C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281801	NM_014366.5(GNL3):c.1576T>C (p.Ser526Pro)	GNL3 (S514P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364958	NM_014366.5(GNL3):c.1584G>C (p.Arg528Ser)	GNL3 (R516S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465975	NM_014366.5(GNL3):c.1642T>G (p.Tyr548Asp)	GNL3 (Y548D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 814444	GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3	ABHD14A, ABHD14B +48 more	Copy number gain	not provided	GUncertain significance
Select item 687764	GRCh37/hg19 3p21.2-21.1(chr3:52195134-52869037)x1	ALAS1, BAP1 +24 more	Copy number loss	not provided	GPathogenic
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

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Items: 40