18401[HGNC] - ClinVar

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Items: 25

	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 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 1707467	Single allele	ANKRD52, APOF +124 more	Duplication	not specified	GUncertain significance
Select item 2530799	NM_005785.4(RNF41):c.733G>A (p.Glu245Lys)	RNF41 (E174K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 759510	NM_005785.4(RNF41):c.720T>C (p.Ala240=)	RNF41	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3155438	NM_005785.4(RNF41):c.718G>C (p.Ala240Pro)	RNF41 (A169P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1245767	NM_005785.4(RNF41):c.602+193T>C	RNF41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2305714	NM_005785.4(RNF41):c.582T>G (p.Ile194Met)	RNF41 (I123M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1265710	NM_005785.4(RNF41):c.499-206C>A	RNF41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 785410	NM_005785.4(RNF41):c.447C>T (p.Ile149=)	RNF41	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 720719	NM_005785.4(RNF41):c.408G>C (p.Lys136Asn)	RNF41 (K65N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2353374	NM_005785.4(RNF41):c.353A>G (p.Gln118Arg)	RNF41 (Q118R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360387	NM_005785.4(RNF41):c.277G>A (p.Val93Ile)	RNF41 (V22I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379810	NM_005785.4(RNF41):c.94C>T (p.Pro32Ser)	RNF41 (P32S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1266669	NM_005785.4(RNF41):c.91-66_91-65del	RNF41	Microsatellite (intron variant)	not provided	GBenign
Select item 1278348	NM_005785.4(RNF41):c.91-121G>A	RNF41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232459	NM_005785.4(RNF41):c.91-137A>G	RNF41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3314920	NM_005785.4(RNF41):c.31G>A (p.Asp11Asn)	RNF41 (D11N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3155437	NM_005785.4(RNF41):c.16A>G (p.Thr6Ala)	RNF41 (T6A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1234461	NM_005785.4(RNF41):c.-23-73G>A	RNF41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1527711	GRCh37/hg19 12q13.2-13.3(chr12:56333262-57010442)	ANKRD52, APOF +30 more	Copy number gain	not specified	GUncertain significance
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	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: 25