8535[HGNC] - ClinVar

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Items: 54

	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 773550	NM_002560.3(P2RX4):c.7G>T (p.Gly3Cys)	LOC130008965, P2RX4 (G3C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 743213	NM_002560.3(P2RX4):c.33C>T (p.Phe11=)	LOC130008965, P2RX4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2275016	NM_002560.3(P2RX4):c.112C>T (p.Leu38Phe)	LOC130008965, P2RX4 (L38F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207632	NM_002560.3(P2RX4):c.127G>C (p.Val43Leu)	LOC130008965, P2RX4 (V43L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596578	NM_002560.3(P2RX4):c.131T>C (p.Ile44Thr)	LOC130008965, P2RX4 (I44T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207634	NM_002560.3(P2RX4):c.190G>T (p.Val64Phe)	P2RX4 (V64F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207633	NM_002560.3(P2RX4):c.190G>C (p.Val64Leu)	P2RX4 (V80L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207635	NM_002560.3(P2RX4):c.191T>A (p.Val64Asp)	P2RX4 (V80D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 741573	NM_002560.3(P2RX4):c.194C>T (p.Thr65Met)	P2RX4 (T65M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2229109	NM_002560.3(P2RX4):c.211G>A (p.Val71Met)	P2RX4 (V71M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207636	NM_002560.3(P2RX4):c.235C>T (p.Leu79Phe)	P2RX4 (L79F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556824	NM_002560.3(P2RX4):c.245G>A (p.Arg82Gln)	P2RX4 (R98Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469530	NM_002560.3(P2RX4):c.260C>G (p.Ala87Gly)	P2RX4 (A87G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207637	NM_002560.3(P2RX4):c.280C>A (p.Gln94Lys)	P2RX4 (Q94K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303789	NM_002560.3(P2RX4):c.301G>A (p.Val101Ile)	P2RX4 (V117I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2224334	NM_002560.3(P2RX4):c.330C>A (p.Asn110Lys)	P2RX4 (N126K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207638	NM_002560.3(P2RX4):c.331C>G (p.Gln111Glu)	P2RX4 (Q127E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215275	NM_002560.3(P2RX4):c.346T>A (p.Cys116Ser)	P2RX4 (C116S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307941	NM_002560.3(P2RX4):c.395G>A (p.Cys132Tyr)	P2RX4 (C132Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 716591	NM_002560.3(P2RX4):c.427+5G>C	P2RX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3207639	NM_002560.3(P2RX4):c.448G>A (p.Val150Ile)	P2RX4 (V166I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2495371	NM_002560.3(P2RX4):c.520C>T (p.Pro174Ser)	P2RX4 (P190S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3303790	NM_002560.3(P2RX4):c.742G>A (p.Val248Met)	P2RX4 (V248M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367978	NM_002560.3(P2RX4):c.829C>T (p.Arg277Cys)	P2RX4 (R277C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374994	NM_002560.3(P2RX4):c.874T>C (p.Tyr292His)	P2RX4 (Y265H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787404	NM_002560.3(P2RX4):c.893A>C (p.Lys298Thr)	P2RX4 (K271T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2206858	NM_002560.3(P2RX4):c.929C>T (p.Thr310Met)	P2RX4 (T283M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402277	NM_002560.3(P2RX4):c.952C>T (p.Arg318Cys)	P2RX4 (R318C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371811	NM_002560.3(P2RX4):c.958G>A (p.Asp320Asn)	P2RX4 (D320N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708384	NM_002560.3(P2RX4):c.978+8G>A	P2RX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2401197	NM_002560.3(P2RX4):c.1015A>G (p.Ile339Val)	P2RX4 (I355V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 729184	NM_002560.3(P2RX4):c.1045-10C>G	P2RX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2464710	NM_002560.3(P2RX4):c.1103G>A (p.Arg368Gln)	P2RX4 (R341Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2536220	NM_002560.3(P2RX4):c.1153G>A (p.Glu385Lys)	P2RX4 (E358K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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: 54