PDXDC1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 148522	GRCh38/hg38 16p13.13-13.11(chr16:11952467-15186199)x1	BFAR, CPPED1 +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 58701	GRCh38/hg38 16p13.13-13.11(chr16:11967831-15162888)x1	BFAR, CPPED1 +110 more	Copy number loss	See cases	GPathogenic
Select item 57619	GRCh38/hg38 16p13.12-12.3(chr16:14609647-18765817)x3	ABCC1, ABCC6 +101 more	Copy number gain	See cases	GUncertain significance
Select item 57620	GRCh38/hg38 16p13.12-13.11(chr16:14639096-16431491)x3	ABCC1, ABCC6 +58 more	Copy number gain	See cases	GUncertain significance
Select item 57622	GRCh38/hg38 16p13.12-13.11(chr16:14668382-16100721)x3	ABCC1, BFAR +45 more	Copy number gain	See cases	GUncertain significance
Select item 3235906	GRCh38/hg38 16p13.12-13.11(chr16:15032610-16203929)	ABCC1, ABCC6 +57 more	Copy number gain	16p13.11 microduplication syndrome	GLikely pathogenic
Select item 3235935	GRCh38/hg38 16p13.12-12.3(chr16:15034129-16187150)	ABCC1, ABCC6 +58 more	Copy number gain	16p13.11 microduplication syndrome	GLikely pathogenic
Select item 2500752	NC_000016.10:g.14683149_16205174dup	ABCC1, ABCC6 +46 more	Duplication	not specified	GUncertain significance
Select item 2498201	Single allele	ABCC1, ABCC6 +57 more	Deletion	16p13.11 recurrent microdeletion syndrome	GLikely pathogenic
Select item 152077	GRCh38/hg38 16p13.12-13.11(chr16:14686278-16431491)x3	ABCC1, ABCC6 +57 more	Copy number gain	See cases	GUncertain significance
Select item 145996	GRCh38/hg38 16p13.11(chr16:14716125-16383721)x1	ABCC1, ABCC6 +56 more	Copy number loss	See cases	GPathogenic
Select item 57625	GRCh38/hg38 16p13.11(chr16:14717194-16508540)x3	ABCC1, ABCC6 +56 more	Copy number gain	See cases	GUncertain significance
Select item 57624	GRCh38/hg38 16p13.11(chr16:14717194-16450842)x3	ABCC1, ABCC6 +56 more	Copy number gain	See cases	GUncertain significance
Select item 545185	NC_000016.10:g.(?_14757009)_(16763184_?)del	ABCC1, ABCC6 +55 more	Deletion	Autism	GPathogenic
Select item 153315	GRCh38/hg38 16p13.11(chr16:14772426-16440033)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 153386	GRCh38/hg38 16p13.11(chr16:14772427-16298053)x1	ABCC1, ABCC6 +45 more	Copy number loss	See cases	GPathogenic
Select item 545186	NC_000016.10:g.(?_14780667)_(16415941_?)del	ABCC1, ABCC6 +54 more	Deletion	Schizophrenia	GPathogenic
Select item 155253	GRCh38/hg38 16p13.11(chr16:14783830-16431491)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 155076	GRCh38/hg38 16p13.11-12.3(chr16:14783830-18536926)x3	ABCC1, ABCC6 +95 more	Copy number gain	See cases	GUncertain significance
Select item 152703	GRCh38/hg38 16p13.11(chr16:14783830-16431491)x4	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 152128	GRCh38/hg38 16p13.11(chr16:14783830-16450901)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 149520	GRCh38/hg38 16p13.11(chr16:14783830-16198378)x1	ABCC1, ABCC6 +43 more	Copy number loss	See cases	GPathogenic
Select item 149202	GRCh38/hg38 16p13.11-12.3(chr16:14783830-18768479)x3	MIR3670-1, MIR3670-2 +96 more	Copy number gain	See cases	GUncertain significance
Select item 149045	GRCh38/hg38 16p13.11(chr16:14783830-16234088)x1	ABCC1, ABCC6 +44 more	Copy number loss	See cases	GPathogenic
Select item 148735	GRCh38/hg38 16p13.11(chr16:14783830-16268850)x3	ABCC1, ABCC6 +44 more	Copy number gain	See cases	GUncertain significance
Select item 148559	GRCh38/hg38 16p13.11-12.3(chr16:14783830-16753905)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 148469	GRCh38/hg38 16p13.11-12.3(chr16:14783830-18680735)x3	ABCC1, ABCC6 +96 more	Copy number gain	See cases	GUncertain significance
Select item 148355	GRCh38/hg38 16p13.11(chr16:14783830-16467294)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 148334	GRCh38/hg38 16p13.11-12.3(chr16:14783830-16741305)x3	MIR1972-1, MIR3179-1 +54 more	Copy number gain	See cases	GUncertain significance
Select item 155541	GRCh38/hg38 16p13.11(chr16:14794724-16404227)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 153650	GRCh38/hg38 16p13.11(chr16:14799023-16440033)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 153612	GRCh38/hg38 16p13.11(chr16:14799175-16450562)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 152188	GRCh38/hg38 16p13.11(chr16:14799872-16440033)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 153310	GRCh38/hg38 16p13.11(chr16:14802528-16236815)x1	ABCC1, ABCC6 +44 more	Copy number loss	See cases	GPathogenic
Select item 154289	GRCh38/hg38 16p13.11(chr16:14803768-16400926)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 155029	GRCh38/hg38 16p13.11(chr16:14803931-16414182)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 154161	GRCh38/hg38 16p13.11(chr16:14803931-16199448)x3	ABCC1, ABCC6 +43 more	Copy number gain	See cases	GUncertain significance
Select item 153547	GRCh38/hg38 16p13.11(chr16:14805819-16420254)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 154272	GRCh38/hg38 16p13.11(chr16:14806274-16440033)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 152383	GRCh38/hg38 16p13.11(chr16:14806311-16439385)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 153841	GRCh38/hg38 16p13.11(chr16:14806325-16450161)x3	NOMO1, NOMO3 +54 more	Copy number gain	See cases	GUncertain significance
Select item 148975	GRCh38/hg38 16p13.11(chr16:14816259-16431491)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 2499651	GRCh38/hg38 16p13.11(chr16:14816348-16678513)	ABCC1, ABCC6 +54 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 160930	GRCh38/hg38 16p13.11(chr16:14816348-16431491)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 160807	GRCh38/hg38 16p13.11(chr16:14816348-16100721)x1	ABCC1, BMERB1 +41 more	Copy number loss	See cases	GPathogenic
Select item 160804	GRCh38/hg38 16p13.11(chr16:14816348-16431491)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 154498	GRCh38/hg38 16p13.11(chr16:14816348-16678513)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 146212	GRCh38/hg38 16p13.11(chr16:14816348-16580464)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 57655	GRCh38/hg38 16p13.11(chr16:14816348-16148900)x3	ABCC1, BMERB1 +41 more	Copy number gain	See cases	GUncertain significance
Select item 57537	GRCh38/hg38 16p13.11(chr16:14816348-15055158)x1	LOC100288162, LOC112340377 +11 more	Copy number loss	See cases	GUncertain significance
Select item 57294	GRCh38/hg38 16p13.11-12.3(chr16:14816348-18658403)x1	ABCC1, ABCC6 +96 more	Copy number loss	See cases	GPathogenic
Select item 57168	GRCh38/hg38 16p13.11-12.3(chr16:14816348-18047194)x1	ABCC1, ABCC6 +85 more	Copy number loss	See cases	GPathogenic
Select item 32961	GRCh38/hg38 16p13.11(chr16:14816348-16100721)x3	ABCC1, BMERB1 +41 more	Copy number gain	See cases	GUncertain significance
Select item 32821	GRCh38/hg38 16p13.11(chr16:14816348-16431491)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 32353	GRCh38/hg38 16p13.11(chr16:14816348-16100721)x1	ABCC1, BMERB1 +41 more	Copy number loss	See cases	GPathogenic
Select item 32196	GRCh38/hg38 16p13.11(chr16:14816348-16633564)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 154784	GRCh38/hg38 16p13.11(chr16:14816356-16431517)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 154755	GRCh38/hg38 16p13.11(chr16:14816356-16648337)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 150761	GRCh38/hg38 16p13.11(chr16:14816356-15140605)x1	LOC100288162, LOC100505915 +16 more	Copy number loss	See cases	GLikely benign
Select item 58704	GRCh38/hg38 16p13.11-12.3(chr16:14823949-18055828)x1	ABCC1, ABCC6 +85 more	Copy number loss	See cases	GPathogenic
Select item 57657	GRCh38/hg38 16p13.11(chr16:14823949-16281234)x3	ABCC1, ABCC6 +45 more	Copy number gain	See cases	GUncertain significance
Select item 150622	GRCh38/hg38 16p13.11-12.3(chr16:14832186-16741305)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 57658	GRCh38/hg38 16p13.11(chr16:14850703-16211879)x3	ABCC1, ABCC6 +43 more	Copy number gain	See cases	GUncertain significance
Select item 160961	GRCh38/hg38 16p13.11(chr16:14874998-16034020)x3	ABCC1, BMERB1 +40 more	Copy number gain	See cases	GUncertain significance
Select item 154376	GRCh38/hg38 16p13.11(chr16:14874998-16034020)x1	PDXDC1, RRN3 +40 more	Copy number loss	See cases	GPathogenic
Select item 34458	GRCh38/hg38 16p13.11(chr16:14874998-16100721)x3	ABCC1, BMERB1 +41 more	Copy number gain	See cases	GUncertain significance
Select item 57660	GRCh38/hg38 16p13.11(chr16:14907656-16281234)x3	ABCC1, ABCC6 +43 more	Copy number gain	See cases	GUncertain significance
Select item 57659	GRCh38/hg38 16p13.11(chr16:14907656-16206199)x3	ABCC1, ABCC6 +41 more	Copy number gain	See cases	GUncertain significance
Select item 149406	GRCh38/hg38 16p13.11(chr16:14954803-15022564)x1	LOC125146418, MIR1972-1 +1 more	Copy number loss	See cases	GLikely benign
Select item 144610	GRCh38/hg38 16p13.11(chr16:14954875-16100718)x3	ABCC1, BMERB1 +33 more	Copy number gain	See cases	GUncertain significance
Select item 160973	GRCh38/hg38 16p13.11(chr16:14954894-16100721)x3	ABCC1, BMERB1 +33 more	Copy number gain	See cases	GUncertain significance
Select item 150612	GRCh38/hg38 16p13.11(chr16:14954894-16198378)x1	ABCC1, ABCC6 +35 more	Copy number loss	See cases	GPathogenic
Select item 148961	GRCh38/hg38 16p13.11(chr16:14954894-15194642)x1	LOC100505915, LOC112340377 +9 more	Copy number loss	See cases	GLikely benign
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 35173	GRCh38/hg38 16p13.11(chr16:14954894-16100721)x1	ABCC1, BMERB1 +33 more	Copy number loss	See cases	GPathogenic
Select item 147163	GRCh38/hg38 16p13.11(chr16:14954924-15022520)x1	LOC125146418, MIR1972-1 +1 more	Copy number loss	See cases	GBenign
Select item 147050	GRCh38/hg38 16p13.11(chr16:14954924-14979916)x1	LOC125146418, PDXDC1	Copy number loss	See cases	GBenign
Select item 154123	GRCh38/hg38 16p13.11(chr16:14956111-16202043)x1	ABCC1, ABCC6 +35 more	Copy number loss	See cases	GPathogenic
Select item 3305619	NM_015027.4(PDXDC1):c.131C>A (p.Ser44Tyr)	PDXDC1 (S29Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211103	NM_015027.4(PDXDC1):c.202C>T (p.Leu68Phe)	PDXDC1 (L53F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768753	NM_015027.4(PDXDC1):c.246C>G (p.Ile82Met)	PDXDC1 (I55M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2354253	NM_015027.4(PDXDC1):c.250A>G (p.Asn84Asp)	PDXDC1 (N56D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208583	NM_015027.4(PDXDC1):c.266G>A (p.Gly89Asp)	PDXDC1 (G74D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211108	NM_015027.4(PDXDC1):c.311C>T (p.Thr104Ile)	PDXDC1 (T104I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305616	NM_015027.4(PDXDC1):c.418G>A (p.Glu140Lys)	PDXDC1 (E113K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211109	NM_015027.4(PDXDC1):c.541G>T (p.Ala181Ser)	PDXDC1 (A154S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790700	NM_015027.4(PDXDC1):c.614C>A (p.Pro205His)	PDXDC1 (P114H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3211110	NM_015027.4(PDXDC1):c.686T>C (p.Ile229Thr)	PDXDC1 (I202T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602581	NM_015027.4(PDXDC1):c.749C>T (p.Thr250Ile)	PDXDC1 (T159I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305618	NM_015027.4(PDXDC1):c.782A>G (p.Glu261Gly)	PDXDC1 (E170G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768754	NM_015027.4(PDXDC1):c.812+7C>T	PDXDC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2253250	NM_015027.4(PDXDC1):c.865G>A (p.Ala289Thr)	PDXDC1 (A289T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646245	NM_015027.4(PDXDC1):c.915G>A (p.Leu305=)	PDXDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2213430	NM_015027.4(PDXDC1):c.929C>T (p.Ala310Val)	PDXDC1 (A219V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646246	NM_015027.4(PDXDC1):c.934A>G (p.Thr312Ala)	PDXDC1 (T221A +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2268566	NM_015027.4(PDXDC1):c.968T>C (p.Leu323Ser)	PDXDC1 (L232S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617504	NM_015027.4(PDXDC1):c.1039T>C (p.Tyr347His)	PDXDC1 (Y256H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545307	NM_015027.4(PDXDC1):c.1166T>C (p.Val389Ala)	PDXDC1 (V362A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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