RSRC2[gene] - ClinVar

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Items: 38

	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 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 57610	GRCh38/hg38 12q24.31(chr12:121325874-122505529)x1	ANAPC5, B3GNT4 +127 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 3315594	NM_023012.6(RSRC2):c.1282A>G (p.Met428Val)	RSRC2 (M428V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252065	NM_023012.6(RSRC2):c.1154T>C (p.Val385Ala)	RSRC2 (V385A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592049	NM_023012.6(RSRC2):c.1150T>G (p.Ser384Ala)	RSRC2 (S384A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156784	NM_023012.6(RSRC2):c.676T>A (p.Phe226Ile)	RSRC2 (F226I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3061115	NM_023012.6(RSRC2):c.482A>G (p.Glu161Gly)	RSRC2 (E161G)	Single nucleotide variant (missense variant +1 more)	RSRC2-related disorder	GUncertain significance
Select item 242899	NM_023012.6(RSRC2):c.425G>A (p.Arg142Gln)	RSRC2 (R142Q)	Single nucleotide variant (missense variant +1 more)	Myopia +5 more	GLikely pathogenic
Select item 3156783	NM_023012.6(RSRC2):c.277C>T (p.His93Tyr)	RSRC2 (H93Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156782	NM_023012.6(RSRC2):c.218A>G (p.His73Arg)	RSRC2 (H73R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616136	NM_023012.6(RSRC2):c.91G>A (p.Val31Ile)	RSRC2 (V31I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553184	NM_023012.6(RSRC2):c.46A>G (p.Thr16Ala)	RSRC2 (T16A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334688	NM_023012.6(RSRC2):c.35C>T (p.Ala12Val)	RSRC2 (A12V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283502	NM_023012.6(RSRC2):c.23G>A (p.Arg8Gln)	RSRC2 (R8Q)	Single nucleotide variant (missense variant +1 more)	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 980993	GRCh37/hg19 12q24.31(chr12:122848293-123172460)x3	CLIP1, KNTC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 688836	GRCh37/hg19 12q24.31(chr12:122782128-123002640)x3	CLIP1, RSRC2 +1 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 686027	GRCh37/hg19 12q24.31(chr12:122598025-122995374)x3	B3GNT4, CLIP1 +7 more	Copy number gain	not provided	GUncertain significance
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 394726	GRCh37/hg19 12q24.31(chr12:122614468-123019270)x3	CLIP1, DIABLO +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: 38