ANKRD33[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	LOC130007898, LOC130007899 +206 more	Copy number loss	See cases	GPathogenic
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 2557780	NM_182608.4(ANKRD33):c.40G>C (p.Gly14Arg)	ANKRD33 (G14R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2360183	NM_182608.4(ANKRD33):c.77T>G (p.Val26Gly)	ANKRD33 (V26G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2553563	NM_182608.4(ANKRD33):c.88C>G (p.Arg30Gly)	ANKRD33 (R30G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2611996	NM_182608.4(ANKRD33):c.164A>T (p.Lys55Ile)	ANKRD33 (K55I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2614956	NM_182608.4(ANKRD33):c.179T>A (p.Leu60Gln)	ANKRD33 (L60Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3125668	NM_182608.4(ANKRD33):c.349G>T (p.Gly117Cys)	ANKRD33 (G117C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3125671	NM_182608.4(ANKRD33):c.361C>G (p.Pro121Ala)	ANKRD33 (P121A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3125677	NM_182608.4(ANKRD33):c.401G>T (p.Gly134Val)	ANKRD33 (G134V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2328241	NM_182608.4(ANKRD33):c.407T>C (p.Met136Thr)	ANKRD33 (M136T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2321730	NM_182608.4(ANKRD33):c.496G>A (p.Asp166Asn)	ANKRD33 (D166N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125688	NM_182608.4(ANKRD33):c.509T>C (p.Met170Thr)	ANKRD33 (M170T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328923	NM_182608.4(ANKRD33):c.595C>T (p.Arg199Trp)	ANKRD33 (R64W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457065	NM_182608.4(ANKRD33):c.608C>T (p.Ala203Val)	ANKRD33 (A203V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515062	NM_182608.4(ANKRD33):c.620C>T (p.Ala207Val)	ANKRD33 (A72V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125701	NM_182608.4(ANKRD33):c.629G>A (p.Arg210Gln)	ANKRD33 (R210Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125704	NM_182608.4(ANKRD33):c.635G>A (p.Arg212His)	ANKRD33 (R212H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125706	NM_182608.4(ANKRD33):c.677C>T (p.Thr226Met)	ANKRD33 (T122M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297408	NM_182608.4(ANKRD33):c.746G>A (p.Arg249Gln)	ANKRD33 (R55Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527589	NM_182608.4(ANKRD33):c.772C>T (p.His258Tyr)	ANKRD33 (H258Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289744	NM_182608.4(ANKRD33):c.788G>T (p.Trp263Leu)	ANKRD33 (W159L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356731	NM_182608.4(ANKRD33):c.791C>T (p.Pro264Leu)	ANKRD33 (P139L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240699	NM_182608.4(ANKRD33):c.805C>T (p.Leu269Phe)	ANKRD33 (L75F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285201	NM_182608.4(ANKRD33):c.814C>G (p.Gln272Glu)	ANKRD33 (Q147E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614201	NM_182608.4(ANKRD33):c.841C>T (p.Pro281Ser)	ANKRD33 (P281S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125720	NM_182608.4(ANKRD33):c.877C>T (p.Leu293Phe)	ANKRD33 (L293F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297427	NM_182608.4(ANKRD33):c.1049C>T (p.Pro350Leu)	ANKRD33 (P246L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297418	NM_182608.4(ANKRD33):c.1070A>G (p.Gln357Arg)	ANKRD33 (Q253R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382224	NM_182608.4(ANKRD33):c.1100C>T (p.Pro367Leu)	ANKRD33 (P263L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342390	NM_182608.4(ANKRD33):c.1184C>G (p.Pro395Arg)	ANKRD33 (P395R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297433	NM_182608.4(ANKRD33):c.1240T>G (p.Cys414Gly)	ANKRD33 (V153G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297439	NM_182608.4(ANKRD33):c.1248G>A (p.Pro416=)	ANKRD33 (E225K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2528712	NM_182608.4(ANKRD33):c.1252C>A (p.Pro418Thr)	ANKRD33 (A157D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125657	NM_182608.4(ANKRD33):c.1309A>C (p.Arg437=)	ANKRD33 (Q245P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2321905	NM_182608.4(ANKRD33):c.1319A>C (p.Lys440Thr)	ANKRD33 (K336T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024271	NC_000012.11:g.52199766_52388207del	ACVR1B, ACVRL1 +3 more	Deletion	Seizures, benign familial infantile, 5 +3 more	GLikely pathogenic
Select item 2684672	GRCh37/hg19 12q13.13(chr12:52249052-52368252)x3	ACVR1B, ACVRL1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 624492	GRCh37/hg19 12q13.13(chr12:51880647-52370250)x3	ACVR1B, ACVRL1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	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 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: 44