8537[HGNC] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	LOC130008976, LOC130008977 +264 more	Copy number gain	See cases	GUncertain significance
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 145853	GRCh38/hg38 12q24.31(chr12:121110993-121325874)x3	ANAPC5, CAMKK2 +11 more	Copy number gain	See cases	GLikely benign
Select item 2471281	NM_002562.6(P2RX7):c.5C>T (p.Pro2Leu)	P2RX7 (P2L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288829	NM_002562.6(P2RX7):c.72G>T (p.Met24Ile)	P2RX7 (M24I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 489390	NM_002562.6(P2RX7):c.125+1G>T	P2RX7	Single nucleotide variant (splice donor variant)	not provided	GLikely benign
Select item 3207662	NM_002562.6(P2RX7):c.145A>C (p.Lys49Gln)	P2RX7 (K49Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207663	NM_002562.6(P2RX7):c.147G>T (p.Lys49Asn)	P2RX7 (K49N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207664	NM_002562.6(P2RX7):c.151T>C (p.Tyr51His)	P2RX7 (Y51H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377452	NM_002562.6(P2RX7):c.157C>T (p.Arg53Trp)	P2RX7 (R53W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 723307	NM_002562.6(P2RX7):c.225C>T (p.Ile75=)	P2RX7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2471324	NM_002562.6(P2RX7):c.226G>A (p.Val76Met)	P2RX7 (V76M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 725343	NM_002562.6(P2RX7):c.234T>C (p.Asn78=)	P2RX7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2473348	NM_002562.6(P2RX7):c.256A>G (p.Ser86Gly)	P2RX7 (S86G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303798	NM_002562.6(P2RX7):c.271G>A (p.Ala91Thr)	P2RX7 (A91T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256922	NM_002562.6(P2RX7):c.281C>T (p.Thr94Ile)	P2RX7 (T94I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207669	NM_002562.6(P2RX7):c.343G>A (p.Glu115Lys)	P2RX7 (E115K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643404	NM_002562.6(P2RX7):c.349C>T (p.Arg117Trp)	P2RX7 (R117W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3031264	NM_002562.6(P2RX7):c.364-4G>A	P2RX7	Single nucleotide variant (intron variant)	P2RX7-related disorder	GLikely benign
Select item 716590	NM_002562.6(P2RX7):c.437-8C>T	P2RX7	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3207670	NM_002562.6(P2RX7):c.455G>A (p.Cys152Tyr)	P2RX7 (C152Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207671	NM_002562.6(P2RX7):c.490G>T (p.Val164Phe)	P2RX7 (V164F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382447	NM_002562.6(P2RX7):c.511G>A (p.Glu171Lys)	P2RX7 (E171K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207672	NM_002562.6(P2RX7):c.534G>A (p.Arg178=)	P2RX7	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2338207	NM_002562.6(P2RX7):c.553G>A (p.Ala185Thr)	P2RX7 (A185T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521072	NM_002562.6(P2RX7):c.598G>A (p.Gly200Ser)	P2RX7 (G200S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207673	NM_002562.6(P2RX7):c.670C>G (p.Pro224Ala)	P2RX7 (P224A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207674	NM_002562.6(P2RX7):c.671C>T (p.Pro224Leu)	P2RX7 (P224L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509864	NM_002562.6(P2RX7):c.707G>A (p.Arg236Gln)	P2RX7 (R236Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2623400	NM_002562.6(P2RX7):c.788A>C (p.Asp263Ala)	P2RX7 (D263A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347884	NM_002562.6(P2RX7):c.794G>C (p.Trp265Ser)	P2RX7 (W265S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773687	NM_002562.6(P2RX7):c.808C>T (p.Arg270Cys)	P2RX7 (R270C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2252648	NM_002562.6(P2RX7):c.845C>T (p.Thr282Ile)	P2RX7 (T282I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207675	NM_002562.6(P2RX7):c.848C>T (p.Thr283Ile)	P2RX7 (T283I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 718081	NM_002562.6(P2RX7):c.862T>C (p.Tyr288His)	P2RX7 (Y288H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2601679	NM_002562.6(P2RX7):c.868G>C (p.Gly290Arg)	P2RX7 (G290R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775100	NM_002562.6(P2RX7):c.920G>A (p.Arg307Gln)	P2RX7 (R307Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 716992	NM_002562.6(P2RX7):c.959T>C (p.Leu320Pro)	P2RX7 (L320P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2463589	NM_002562.6(P2RX7):c.1162T>G (p.Cys388Gly)	P2RX7 (C388G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550895	NM_002562.6(P2RX7):c.1185G>T (p.Lys395Asn)	P2RX7 (K395N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399224	NM_002562.6(P2RX7):c.1348C>T (p.Pro450Ser)	P2RX7 (P450S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207660	NM_002562.6(P2RX7):c.1397C>T (p.Ala466Val)	P2RX7 (A466V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 784475	NM_002562.6(P2RX7):c.1564G>A (p.Val522Ile)	P2RX7 (V522I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2299202	NM_002562.6(P2RX7):c.1593G>T (p.Glu531Asp)	P2RX7 (E531D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207665	NM_002562.6(P2RX7):c.1613T>C (p.Val538Ala)	P2RX7 (V538A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2552320	NM_002562.6(P2RX7):c.1630C>T (p.Arg544Trp)	P2RX7 (R544W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207666	NM_002562.6(P2RX7):c.1637G>A (p.Arg546Gln)	P2RX7 (R546Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460315	NM_002562.6(P2RX7):c.1669C>A (p.Arg557Ser)	P2RX7 (R557S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207667	NM_002562.6(P2RX7):c.1687A>G (p.Met563Val)	P2RX7 (M563V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381186	NM_002562.6(P2RX7):c.1715G>C (p.Cys572Ser)	P2RX7 (C572S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 444309	NM_002562.6(P2RX7):c.1733G>A (p.Arg578Gln)	P2RX7 (R578Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3244353	NC_000012.11:g.(?_121416034)_(122985387_?)del	ZCCHC8, ANAPC5 +24 more	Deletion	not provided	GPathogenic
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	ABCB9, ACADS +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 1808547	GRCh37/hg19 12q24.31(chr12:121551496-121771295)x3	ANAPC5, CAMKK2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 394621	GRCh37/hg19 12q24.31(chr12:121441298-122107345)x3	ANAPC5, C12orf43 +8 more	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 68