20247[HGNC] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +230 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 2287123	NM_019606.6(MEPCE):c.32T>G (p.Phe11Cys)	MEPCE (F11C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276373	NM_019606.6(MEPCE):c.46C>G (p.Pro16Ala)	LOC129998939, MEPCE (P16A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523198	NM_019606.6(MEPCE):c.53C>T (p.Pro18Leu)	LOC129998939, MEPCE (P18L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461423	NM_019606.6(MEPCE):c.61A>C (p.Lys21Gln)	LOC129998939, MEPCE (K21Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262938	NM_019606.6(MEPCE):c.70T>G (p.Ser24Ala)	LOC129998939, MEPCE (S24A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294260	NM_019606.6(MEPCE):c.82G>A (p.Gly28Ser)	LOC129998939, MEPCE (G28S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404887	NM_019606.6(MEPCE):c.91A>C (p.Thr31Pro)	LOC129998939, MEPCE (T31P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125340	NM_019606.6(MEPCE):c.109G>A (p.Glu37Lys)	LOC129998939, MEPCE (E37K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349429	NM_019606.6(MEPCE):c.122G>A (p.Gly41Glu)	LOC129998939, MEPCE (G41E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521308	NM_019606.6(MEPCE):c.179C>G (p.Ser60Cys)	LOC129998939, MEPCE (S60C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557271	NM_019606.6(MEPCE):c.184G>A (p.Ala62Thr)	LOC129998939, MEPCE (A62T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322351	NM_019606.6(MEPCE):c.269C>A (p.Pro90His)	MEPCE, LOC129998939 (P90H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294254	NM_019606.6(MEPCE):c.286G>A (p.Gly96Arg)	LOC129998939, MEPCE (G96R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242797	NM_019606.6(MEPCE):c.313G>A (p.Gly105Arg)	LOC129998939, MEPCE (G105R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125347	NM_019606.6(MEPCE):c.334G>T (p.Val112Leu)	LOC129998939, MEPCE (V112L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391945	NM_019606.6(MEPCE):c.386C>T (p.Pro129Leu)	LOC129998939, MEPCE (P129L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294261	NM_019606.6(MEPCE):c.517G>C (p.Val173Leu)	MEPCE (V173L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495323	NM_019606.6(MEPCE):c.560T>G (p.Leu187Arg)	MEPCE (L187R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513030	NM_019606.6(MEPCE):c.732C>G (p.Cys244Trp)	MEPCE (C244W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2518366	NM_019606.6(MEPCE):c.761C>T (p.Ser254Leu)	MEPCE (S254L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2386582	NM_019606.6(MEPCE):c.766C>G (p.Leu256Val)	MEPCE (L256V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2492167	NM_019606.6(MEPCE):c.810C>G (p.His270Gln)	MEPCE (H270Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3125349	NM_019606.6(MEPCE):c.842G>A (p.Ser281Asn)	MEPCE (S281N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2362682	NM_019606.6(MEPCE):c.847C>T (p.Pro283Ser)	MEPCE (P283S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2386380	NM_019606.6(MEPCE):c.850G>C (p.Val284Leu)	MEPCE (V284L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3125350	NM_019606.6(MEPCE):c.884A>T (p.His295Leu)	MEPCE (H295L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3125351	NM_019606.6(MEPCE):c.938C>A (p.Pro313His)	MEPCE (P313H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2236140	NM_019606.6(MEPCE):c.1001C>T (p.Ser334Phe)	MEPCE (S334F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3125339	NM_019606.6(MEPCE):c.1012G>T (p.Gly338Cys)	MEPCE (G338C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3294255	NM_019606.6(MEPCE):c.1034C>G (p.Ala345Gly)	MEPCE (A345G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2318522	NM_019606.6(MEPCE):c.1064C>G (p.Pro355Arg)	MEPCE (P355R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3125341	NM_019606.6(MEPCE):c.1120G>T (p.Ala374Ser)	MEPCE (A374S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2360857	NM_019606.6(MEPCE):c.1144G>A (p.Gly382Ser)	MEPCE (G382S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2590221	NM_019606.6(MEPCE):c.1165G>A (p.Gly389Arg)	MEPCE (G389R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3294259	NM_019606.6(MEPCE):c.1180C>T (p.Arg394Cys)	MEPCE (R394C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2471077	NM_019606.6(MEPCE):c.1184A>G (p.His395Arg)	MEPCE (H395R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3294257	NM_019606.6(MEPCE):c.1241A>G (p.Gln414Arg)	MEPCE (Q414R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2624183	NM_019606.6(MEPCE):c.1242G>C (p.Gln414His)	MEPCE (Q414H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2320676	NM_019606.6(MEPCE):c.1253A>T (p.Tyr418Phe)	MEPCE (Y418F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3125342	NM_019606.6(MEPCE):c.1265A>G (p.Tyr422Cys)	MEPCE (Y422C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3294256	NM_019606.6(MEPCE):c.1358A>G (p.Asn453Ser)	MEPCE (N453S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2474876	NM_019606.6(MEPCE):c.1450C>A (p.Arg484Ser)	MEPCE (R15S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569597	NM_019606.6(MEPCE):c.1549G>A (p.Val517Ile)	MEPCE (V517I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2499584	NM_019606.6(MEPCE):c.1552C>T (p.Arg518Ter)	MEPCE (R49* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental delay	GUncertain significance
Select item 3125343	NM_019606.6(MEPCE):c.1745G>A (p.Ser582Asn)	MEPCE (S113N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294258	NM_019606.6(MEPCE):c.1780G>A (p.Glu594Lys)	MEPCE (E125K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125344	NM_019606.6(MEPCE):c.1813C>G (p.Arg605Gly)	MEPCE (R605G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460306	NM_019606.6(MEPCE):c.1814G>A (p.Arg605Gln)	MEPCE (R136Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125346	NM_019606.6(MEPCE):c.1928A>G (p.Lys643Arg)	MEPCE (K174R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294252	NM_019606.6(MEPCE):c.1955C>T (p.Thr652Ile)	MEPCE (T652I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311701	NM_019606.6(MEPCE):c.1966G>A (p.Val656Met)	MEPCE (V187M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685256	GRCh37/hg19 7q22.1(chr7:99263437-100105272)x1	ZNF3, ZSCAN21 +32 more	Copy number loss	not provided	GUncertain significance
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	ACHE, ACTL6B +75 more	Deletion	not provided	GUncertain significance
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 929826	GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1	ACHE, ACTL6B +77 more	Copy number loss	See cases	GLikely pathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 77