396[HGNC] - ClinVar

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Items: 49

	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 2216351	NM_000688.6(ALAS1):c.13G>A (p.Val5Ile)	ALAS1 (V22I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283222	NM_000688.6(ALAS1):c.25C>G (p.Pro9Ala)	ALAS1 (P26A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776349	NM_000688.6(ALAS1):c.38G>A (p.Arg13Gln)	ALAS1 (R13Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2383551	NM_000688.6(ALAS1):c.133C>A (p.Pro45Thr)	ALAS1 (P45T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239696	NM_000688.6(ALAS1):c.308G>A (p.Gly103Asp)	ALAS1 (G103D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108389	NM_000688.6(ALAS1):c.310A>C (p.Thr104Pro)	ALAS1 (T104P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244355	NM_000688.6(ALAS1):c.356G>A (p.Gly119Asp)	ALAS1 (G119D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319170	NM_000688.6(ALAS1):c.380G>T (p.Ser127Ile)	ALAS1 (S127I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283206	NM_000688.6(ALAS1):c.418G>T (p.Val140Leu)	ALAS1 (V140L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328004	NM_000688.6(ALAS1):c.571C>A (p.Pro191Thr)	ALAS1 (P191T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108400	NM_000688.6(ALAS1):c.620T>C (p.Ile207Thr)	ALAS1 (I207T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283212	NM_000688.6(ALAS1):c.624T>G (p.Asp208Glu)	ALAS1 (D225E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474781	NM_000688.6(ALAS1):c.637G>A (p.Asp213Asn)	ALAS1 (D213N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604299	NM_000688.6(ALAS1):c.688C>T (p.Pro230Ser)	ALAS1 (P230S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600968	NM_000688.6(ALAS1):c.691A>G (p.Met231Val)	ALAS1 (M231V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108407	NM_000688.6(ALAS1):c.757T>C (p.Tyr253His)	ALAS1 (Y253H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412351	NM_000688.6(ALAS1):c.781C>T (p.Arg261Trp)	ALAS1 (R261W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389707	NM_000688.6(ALAS1):c.784G>A (p.Val262Met)	ALAS1 (V262M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552590	NM_000688.6(ALAS1):c.835G>A (p.Gly279Ser)	ALAS1 (G279S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301154	NM_000688.6(ALAS1):c.1028T>C (p.Ile343Thr)	ALAS1 (I343T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108365	NM_000688.6(ALAS1):c.1040G>T (p.Arg347Leu)	ALAS1 (R347L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323234	NM_000688.6(ALAS1):c.1058A>T (p.Lys353Met)	ALAS1 (K353M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108368	NM_000688.6(ALAS1):c.1090C>T (p.Leu364Phe)	ALAS1 (L364F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361727	NM_000688.6(ALAS1):c.1160T>C (p.Met387Thr)	ALAS1 (M387T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108374	NM_000688.6(ALAS1):c.1265G>A (p.Arg422Gln)	ALAS1 (R422Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283198	NM_000688.6(ALAS1):c.1390G>A (p.Val464Ile)	ALAS1 (V464I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386203	NM_000688.6(ALAS1):c.1435C>G (p.Pro479Ala)	ALAS1 (P496A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374481	NM_000688.6(ALAS1):c.1492C>T (p.Arg498Trp)	ALAS1 (R515W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595194	NM_000688.6(ALAS1):c.1516C>T (p.Arg506Cys)	ALAS1 (R523C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290968	NM_000688.6(ALAS1):c.1544T>C (p.Leu515Pro)	ALAS1 (L532P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108384	NM_000688.6(ALAS1):c.1555G>A (p.Gly519Ser)	ALAS1 (G519S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332130	NM_000688.6(ALAS1):c.1573T>G (p.Cys525Gly)	ALAS1 (C542G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345872	NM_000688.6(ALAS1):c.1598G>A (p.Arg533Gln)	ALAS1 (R533Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283188	NM_000688.6(ALAS1):c.1663G>A (p.Val555Met)	ALAS1 (V555M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344858	NM_000688.6(ALAS1):c.1727C>T (p.Pro576Leu)	ALAS1 (P576L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531509	NM_000688.6(ALAS1):c.1730A>G (p.His577Arg)	ALAS1 (H594R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519250	NM_000688.6(ALAS1):c.1889C>T (p.Ser630Leu)	ALAS1 (S647L +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 980509	GRCh37/hg19 3p21.2-21.1(chr3:51975459-52561678)x4	RRP9, SEMA3G +23 more	Copy number gain	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

ClinVar

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Items: 49