30723[HGNC] - ClinVar

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Items: 73

	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 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 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	See cases	GPathogenic
Select item 152933	GRCh38/hg38 12q24.31(chr12:122646987-123057419)x3	ABCB9, ARL6IP4 +38 more	Copy number gain	See cases	GUncertain significance
Select item 3139245	NM_201435.5(CCDC62):c.16G>A (p.Ala6Thr)	CCDC62 (A6T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3139249	NM_201435.5(CCDC62):c.22C>T (p.Leu8Phe)	CCDC62 (L8F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614805	NM_201435.5(CCDC62):c.31C>T (p.Arg11Cys)	CCDC62 (R11C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217260	NM_201435.5(CCDC62):c.35A>T (p.Gln12Leu)	CCDC62 (Q12L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643506	NM_201435.5(CCDC62):c.42C>T (p.Ile14=)	CCDC62	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2513017	NM_201435.5(CCDC62):c.101T>C (p.Ile34Thr)	CCDC62 (I34T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139240	NM_201435.5(CCDC62):c.119G>A (p.Arg40Gln)	CCDC62 (R40Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139244	NM_201435.5(CCDC62):c.139A>G (p.Met47Val)	CCDC62 (M47V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513087	NM_201435.5(CCDC62):c.184C>T (p.Arg62Trp)	CCDC62 (R62W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139247	NM_201435.5(CCDC62):c.199A>G (p.Thr67Ala)	CCDC62 (T67A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594690	NM_201435.5(CCDC62):c.211C>T (p.Arg71Cys)	CCDC62 (R71C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264241	NM_201435.5(CCDC62):c.212G>A (p.Arg71His)	CCDC62 (R71H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2428753	NM_201435.5(CCDC62):c.385G>C (p.Glu129Gln)	CCDC62 (E129Q)	Single nucleotide variant (missense variant +1 more)	Spermatogenic failure 67	GUncertain significance
Select item 3139250	NM_201435.5(CCDC62):c.408A>C (p.Glu136Asp)	CCDC62 (E136D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139251	NM_201435.5(CCDC62):c.410C>T (p.Thr137Ile)	CCDC62 (T137I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1345024	NM_201435.5(CCDC62):c.442C>T (p.Gln148Ter)	CCDC62 (Q148*)	Single nucleotide variant (nonsense +1 more)	Spermatogenic failure 67	GPathogenic
Select item 2215974	NM_201435.5(CCDC62):c.479C>G (p.Thr160Arg)	CCDC62 (T160R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555565	NM_201435.5(CCDC62):c.493C>A (p.Leu165Ile)	CCDC62 (L165I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139252	NM_201435.5(CCDC62):c.527A>G (p.His176Arg)	CCDC62 (H176R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213072	NM_201435.5(CCDC62):c.542C>T (p.Ser181Leu)	CCDC62 (S181L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519758	NM_201435.5(CCDC62):c.575G>A (p.Arg192His)	CCDC62 (R192H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264242	NM_201435.5(CCDC62):c.614A>C (p.Lys205Thr)	CCDC62 (K205T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475814	NM_201435.5(CCDC62):c.673G>A (p.Asp225Asn)	CCDC62 (D225N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479051	NM_201435.5(CCDC62):c.797A>G (p.Glu266Gly)	CCDC62 (E266G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139253	NM_201435.5(CCDC62):c.811G>T (p.Ala271Ser)	CCDC62 (A271S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 784263	NM_201435.5(CCDC62):c.938A>T (p.Tyr313Phe)	CCDC62 (Y313F)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2622370	NM_201435.5(CCDC62):c.949A>G (p.Met317Val)	CCDC62 (M317V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281498	NM_201435.5(CCDC62):c.1070A>G (p.Lys357Arg)	CCDC62 (K357R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408679	NM_201435.5(CCDC62):c.1086G>T (p.Leu362Phe)	CCDC62 (L362F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779953	NM_201435.5(CCDC62):c.1092G>A (p.Gln364=)	CCDC62	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2276555	NM_201435.5(CCDC62):c.1126T>C (p.Cys376Arg)	CCDC62 (C376R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139239	NM_201435.5(CCDC62):c.1181C>T (p.Thr394Met)	CCDC62 (T394M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264247	NM_201435.5(CCDC62):c.1192A>G (p.Ile398Val)	CCDC62 (I398V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139242	NM_201435.5(CCDC62):c.1285A>G (p.Lys429Glu)	CCDC62 (K429E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264250	NM_201435.5(CCDC62):c.1310G>A (p.Cys437Tyr)	CCDC62 (C437Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470202	NM_201435.5(CCDC62):c.1319C>G (p.Thr440Ser)	CCDC62 (T440S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254135	NM_201435.5(CCDC62):c.1346C>G (p.Pro449Arg)	CCDC62 (P449R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139243	NM_201435.5(CCDC62):c.1358C>T (p.Pro453Leu)	CCDC62 (P453L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264245	NM_201435.5(CCDC62):c.1412C>A (p.Thr471Asn)	CCDC62 (T471N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395248	NM_201435.5(CCDC62):c.1462G>A (p.Asp488Asn)	CCDC62 (D488N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386519	NM_201435.5(CCDC62):c.1487C>T (p.Ser496Leu)	CCDC62 (S496L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555235	NM_201435.5(CCDC62):c.1546T>C (p.Cys516Arg)	CCDC62 (C516R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264249	NM_201435.5(CCDC62):c.1554G>A (p.Pro518=)	CCDC62	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2287427	NM_201435.5(CCDC62):c.1642C>T (p.Arg548Cys)	CCDC62 (R548C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283535	NM_201435.5(CCDC62):c.1692T>A (p.His564Gln)	CCDC62 (H564Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264246	NM_201435.5(CCDC62):c.1720A>C (p.Ile574Leu)	CCDC62 (I574L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264244	NM_201435.5(CCDC62):c.1759T>G (p.Leu587Val)	CCDC62 (L587V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139246	NM_201435.5(CCDC62):c.1844A>G (p.Asn615Ser)	CCDC62 (N615S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2359259	NM_201435.5(CCDC62):c.1906C>T (p.Arg636Cys)	CCDC62 (R636C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264248	NM_201435.5(CCDC62):c.1930A>T (p.Met644Leu)	CCDC62 (M644L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546406	NM_201435.5(CCDC62):c.1972C>G (p.His658Asp)	CCDC62 (H658D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139248	NM_201435.5(CCDC62):c.2030A>T (p.Gln677Leu)	CCDC62 (Q677L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2426783	NC_000012.11:g.(?_122277634)_(124242579_?)del	ABCB9, ARL6IP4 +37 more	Deletion	not provided	GUncertain significance
Select item 1807868	GRCh37/hg19 12q24.31(chr12:122737779-123265478)x3	CCDC62, CLIP1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1527745	GRCh37/hg19 12q24.31(chr12:122938957-123747037)	ABCB9, ARL6IP4 +15 more	Copy number gain	not specified	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 1328462	GRCh37/hg19 12q24.31(chr12:121887337-123386068)x3	B3GNT4, BCL7A +25 more	Copy number gain	not provided	GUncertain significance
Select item 687704	GRCh37/hg19 12q24.31-24.32(chr12:122169403-129084163)x1	AACS, ABCB9 +52 more	Copy number loss	not provided	GPathogenic
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 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: 73