ClinVar for Gene (Select 64208) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3216805	NM_022361.5(POPDC3):c.820C>T (p.Arg274Cys)	BVES-AS1, POPDC3 (R274C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216804	NM_022361.5(POPDC3):c.595G>C (p.Val199Leu)	BVES-AS1, POPDC3 (V199L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3069145	NM_022361.5(POPDC3):c.486-6T>A	BVES-AS1, POPDC3	Single nucleotide variant (intron variant)	Muscular dystrophy, limb-girdle, autosomal recessive 26	GPathogenic
Select item 3069144	NM_022361.5(POPDC3):c.486-1G>A	BVES-AS1, POPDC3	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy, limb-girdle, autosomal recessive 26	GPathogenic
Select item 3069143	NM_022361.5(POPDC3):c.460A>G (p.Lys154Glu)	BVES-AS1, POPDC3 (K154E)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 26	GPathogenic
Select item 3040113	NM_022361.5(POPDC3):c.75C>T (p.Ala25=)	POPDC1-AS1, POPDC3	Single nucleotide variant (synonymous variant +1 more)	POPDC3-related disorder	GLikely benign
Select item 2685212	GRCh37/hg19 6q21(chr6:105546265-105660039)x1	BVES, POPDC3	Copy number loss	not provided	GUncertain significance
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 2656803	NM_022361.5(POPDC3):c.270G>A (p.Met90Ile)	POPDC1-AS1, POPDC3 (M90I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2550135	NM_022361.5(POPDC3):c.37G>A (p.Asp13Asn)	POPDC1-AS1, POPDC3 (D13N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533485	NM_022361.5(POPDC3):c.283A>G (p.Ile95Val)	POPDC1-AS1, POPDC3 (I95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533393	NM_022361.5(POPDC3):c.277G>A (p.Val93Ile)	POPDC1-AS1, POPDC3 (V93I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495522	NM_022361.5(POPDC3):c.232T>C (p.Phe78Leu)	POPDC1-AS1, POPDC3 (F78L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489440	NM_022361.5(POPDC3):c.508G>A (p.Glu170Lys)	POPDC1-AS1, POPDC3 (E170K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377928	NM_022361.5(POPDC3):c.389C>T (p.Ala130Val)	POPDC1-AS1, POPDC3 (A130V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309495	NM_022361.5(POPDC3):c.671A>G (p.His224Arg)	POPDC1-AS1, POPDC3 (H224R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253768	NM_022361.5(POPDC3):c.500T>C (p.Val167Ala)	POPDC1-AS1, POPDC3 (V167A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219768	NM_022361.5(POPDC3):c.246T>G (p.Phe82Leu)	POPDC1-AS1, POPDC3 (F82L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807989	GRCh37/hg19 6q21(chr6:105551316-105870467)x3	BVES, POPDC3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807814	GRCh37/hg19 6q16.1-21(chr6:96946110-106497526)x1	ASCC3, BVES +22 more	Copy number loss	not provided	GPathogenic
Select item 1527272	GRCh37/hg19 6q21(chr6:105550491-107378236)	ATG5, BVES +7 more	Copy number loss	not specified	GUncertain significance
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 1276858	NM_022361.5(POPDC3):c.317G>A (p.Arg106Gln)	BVES-AS1, POPDC3 (R106Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1271234	NM_022361.5(POPDC3):c.485+164A>G	BVES-AS1, POPDC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265554	NM_022361.5(POPDC3):c.485+100G>A	BVES-AS1, POPDC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257854	NM_022361.5(POPDC3):c.595-176C>T	BVES-AS1, POPDC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	PREP, QRSL1 +66 more	Copy number loss	Deletion 6q16 q21	GPathogenic
Select item 974790	GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3	DSE, FAM229B +69 more	Copy number gain	Microcephaly +1 more	GPathogenic
Select item 869188	NM_022361.5(POPDC3):c.651A>T (p.Leu217Phe)	BVES-AS1, POPDC3 (L217F)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy, limb-girdle, autosomal recessive 26	GPathogenic
Select item 869187	NM_022361.5(POPDC3):c.464T>A (p.Leu155His)	BVES-AS1, POPDC3 (L155H)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 26	GPathogenic
Select item 869186	NM_022361.5(POPDC3):c.782G>A (p.Arg261Gln)	BVES-AS1, POPDC3 (R261Q)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy, limb-girdle, autosomal recessive 26	GPathogenic
Select item 816616	GRCh37/hg19 6q21(chr6:105585683-106158458)x3	PREP, POPDC3	Copy number gain	not provided	GLikely benign
Select item 778250	NM_022361.5(POPDC3):c.12T>C (p.Asn4=)	BVES-AS1, POPDC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 778249	NM_022361.5(POPDC3):c.516G>A (p.Leu172=)	BVES-AS1, POPDC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 716895	NM_022361.5(POPDC3):c.395G>A (p.Ser132Asn)	BVES-AS1, POPDC3 (S132N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688213	GRCh37/hg19 6q21(chr6:105538029-105659133)x1	BVES, POPDC3	Copy number loss	not provided	GUncertain significance
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	ZBTB24, AFG1L +49 more	Copy number loss	See cases	GPathogenic
Select item 442063	GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1	AFG1L, AK9 +44 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 47