ClinVar for Gene (Select 5715) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311020	NM_002813.7(PSMD9):c.433G>A (p.Gly145Ser)	PSMD9 (G145S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311019	NM_002813.7(PSMD9):c.581G>A (p.Arg194His)	PSMD9 (R194H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311016	NM_002813.7(PSMD9):c.443C>T (p.Ala148Val)	PSMD9 (A148V)	Single nucleotide variant (missense variant +1 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 3220469	NM_002813.7(PSMD9):c.310G>A (p.Asp104Asn)	PSMD9 (D104N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220468	NM_002813.7(PSMD9):c.302A>G (p.His101Arg)	PSMD9 (H101R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220466	NM_002813.7(PSMD9):c.149T>C (p.Ile50Thr)	PSMD9 (I50T)	Single nucleotide variant (missense variant +2 more)	not specified	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 2609111	NM_002813.7(PSMD9):c.512A>C (p.Gln171Pro)	PSMD9 (Q171P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2578698	GRCh37/hg19 12q24.31(chr12:121890923-122473333)x1	BCL7A, CFAP251 +8 more	Copy number loss	not provided	GLikely pathogenic
Select item 2544699	NM_002813.7(PSMD9):c.585G>C (p.Arg195Ser)	PSMD9 (R195S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2539187	NM_002813.7(PSMD9):c.365G>T (p.Arg122Leu)	PSMD9 (R122L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530300	NM_002813.7(PSMD9):c.326C>T (p.Ala109Val)	PSMD9 (A109V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524633	NM_002813.7(PSMD9):c.629G>C (p.Gly210Ala)	PSMD9 (G210A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514023	NM_002813.7(PSMD9):c.43G>A (p.Ala15Thr)	PSMD9 (A15T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491570	NM_002813.7(PSMD9):c.559C>T (p.Pro187Ser)	PSMD9 (P187S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491569	NM_002813.7(PSMD9):c.558G>T (p.Lys186Asn)	PSMD9 (K186N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426783	NC_000012.11:g.(?_122277634)_(124242579_?)del	ABCB9, ARL6IP4 +37 more	Deletion	not provided	GUncertain significance
Select item 2365774	NM_002813.7(PSMD9):c.148A>G (p.Ile50Val)	PSMD9 (I50V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2266824	NM_002813.7(PSMD9):c.38C>T (p.Ser13Leu)	PSMD9 (S13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245353	NM_002813.7(PSMD9):c.199G>A (p.Val67Met)	PSMD9 (V67M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1527743	GRCh37/hg19 12q24.31(chr12:121882818-122666131)	BCL7A, CFAP251 +11 more	Copy number loss	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 687858	GRCh37/hg19 12q24.31(chr12:122351591-122848069)x1	B3GNT4, BCL7A +8 more	Copy number loss	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 393818	GRCh37/hg19 12q24.31(chr12:122332600-122398449)x3	PSMD9, CFAP251	Copy number gain	See cases	GLikely benign
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 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 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	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 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150419	GRCh38/hg38 12q24.31(chr12:121802243-122229509)x3	B3GNT4, BCL7A +57 more	Copy number gain	See cases	GUncertain significance
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 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 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 57611	GRCh38/hg38 12q24.31(chr12:121471000-122459718)x1	B3GNT4, BCL7A +113 more	Copy number loss	See cases	GPathogenic
Select item 57610	GRCh38/hg38 12q24.31(chr12:121325874-122505529)x1	ANAPC5, B3GNT4 +127 more	Copy number loss	See cases	GPathogenic
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	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

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Links from Gene

Items: 45