ClinVar for Gene (Select 23042) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315442	NM_018427.5(RRN3):c.1449G>C (p.Leu483Phe)	PDXDC1, RRN3 (L453F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315441	NM_018427.5(RRN3):c.1174G>T (p.Asp392Tyr)	PDXDC1, RRN3 (D362Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315440	NM_018427.5(RRN3):c.680A>T (p.His227Leu)	PDXDC1, RRN3 (H227L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315439	NM_018427.5(RRN3):c.655G>A (p.Glu219Lys)	PDXDC1, RRN3 (E189K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315438	NM_018427.5(RRN3):c.1409G>A (p.Arg470Lys)	PDXDC1, RRN3 (R440K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315437	NM_018427.5(RRN3):c.1913T>A (p.Val638Glu)	PDXDC1, RRN3 (V638E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315436	NM_018427.5(RRN3):c.736C>G (p.Leu246Val)	PDXDC1, RRN3 (L246V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315435	NM_018427.5(RRN3):c.1036G>T (p.Asp346Tyr)	PDXDC1, RRN3 (D346Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305620	NM_015027.4(PDXDC1):c.1919A>G (p.Gln640Arg)	PDXDC1 (Q612R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 3305617	NM_015027.4(PDXDC1):c.2087G>A (p.Arg696His)	PDXDC1 (R681H +5 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 3305615	NM_015027.4(PDXDC1):c.1841G>A (p.Arg614Gln)	PDXDC1 (R587Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301236	NM_173474.4(NTAN1):c.479G>T (p.Cys160Phe)	NTAN1, PDXDC1 (C55F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242339	GRCh37/hg19 16p13.11(chr16:15124948-16290785)x1	ABCC1, ABCC6 +10 more	Copy number loss	not provided	GPathogenic
Select item 3242310	GRCh37/hg19 16p13.12-13.11(chr16:14800000-16400000)x3	ABCC1, ABCC6 +15 more	Copy number gain	not provided	GPathogenic
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 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 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 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 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 3211107	NM_015027.4(PDXDC1):c.2315C>T (p.Pro772Leu)	PDXDC1 (P757L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211106	NM_015027.4(PDXDC1):c.2221C>G (p.Gln741Glu)	PDXDC1 (Q741E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211105	NM_015027.4(PDXDC1):c.2200C>T (p.Arg734Cys)	PDXDC1 (R643C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211104	NM_015027.4(PDXDC1):c.2072C>T (p.Thr691Met)	PDXDC1 (T600M +5 more)	Single nucleotide variant (missense variant +1 more)	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 3211102	NM_015027.4(PDXDC1):c.1840C>T (p.Arg614Trp)	PDXDC1 (R523W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211101	NM_015027.4(PDXDC1):c.1808C>T (p.Ser603Leu)	PDXDC1 (S602L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211100	NM_015027.4(PDXDC1):c.1724A>G (p.Tyr575Cys)	PDXDC1 (Y560C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211099	NM_015027.4(PDXDC1):c.1693C>T (p.Pro565Ser)	PDXDC1 (P538S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211098	NM_015027.4(PDXDC1):c.1208C>T (p.Pro403Leu)	PDXDC1 (P380L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202542	NM_173474.4(NTAN1):c.812C>A (p.Thr271Asn)	NTAN1, PDXDC1 (T166N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202541	NM_173474.4(NTAN1):c.610C>A (p.Arg204Ser)	NTAN1, PDXDC1 (R204S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202540	NM_173474.4(NTAN1):c.500G>A (p.Arg167Gln)	NTAN1, PDXDC1 (R62Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202539	NM_173474.4(NTAN1):c.352T>C (p.Cys118Arg)	NTAN1, PDXDC1 (C118R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202538	NM_173474.4(NTAN1):c.283G>A (p.Gly95Arg)	NTAN1, PDXDC1 (G95R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3156474	NM_018427.5(RRN3):c.805A>G (p.Thr269Ala)	PDXDC1, RRN3 (T239A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3156473	NM_018427.5(RRN3):c.40G>A (p.Ala14Thr)	PDXDC1, RRN3 (A14T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156472	NM_018427.5(RRN3):c.400G>A (p.Gly134Ser)	PDXDC1, RRN3 (G134S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156471	NM_018427.5(RRN3):c.311A>G (p.Lys104Arg)	PDXDC1, RRN3 (K104R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156470	NM_018427.5(RRN3):c.22A>G (p.Thr8Ala)	PDXDC1, RRN3 (T8A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156469	NM_018427.5(RRN3):c.1855G>A (p.Val619Met)	PDXDC1, RRN3 (V619M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156467	NM_018427.5(RRN3):c.1753A>C (p.Ser585Arg)	PDXDC1, RRN3 (S555R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156466	NM_018427.5(RRN3):c.172G>C (p.Glu58Gln)	PDXDC1, RRN3 (E58Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156465	NM_018427.5(RRN3):c.170C>G (p.Thr57Arg)	PDXDC1, RRN3 (T57R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156464	NM_018427.5(RRN3):c.1490G>C (p.Ser497Thr)	PDXDC1, RRN3 (S467T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156463	NM_018427.5(RRN3):c.144A>C (p.Lys48Asn)	PDXDC1, RRN3 (K48N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063442	GRCh37/hg19 16p13.11(chr16:14892713-16544419)x3	ABCC1, ABCC6 +13 more	Copy number gain	not specified	GPathogenic
Select item 3063441	GRCh37/hg19 16p13.11(chr16:14866283-16544419)x3	ABCC1, ABCC6 +13 more	Copy number gain	not specified	GPathogenic
Select item 3063418	GRCh37/hg19 16p13.11(chr16:14892880-16494783)x3	ABCC1, ABCC6 +13 more	Copy number gain	not specified	GPathogenic
Select item 3063408	GRCh37/hg19 16p13.11(chr16:14906734-16516109)x3	ABCC1, ABCC6 +13 more	Copy number gain	not specified	GPathogenic
Select item 3062590	GRCh37/hg19 16p13.11(chr16:15126890-16289059)x3	ABCC1, ABCC6 +10 more	Copy number gain	not specified	GLikely pathogenic, low penetrance
Select item 3060524	NM_015027.4(PDXDC1):c.2175C>T (p.His725=)	PDXDC1	Single nucleotide variant (synonymous variant +1 more)	PDXDC1-related disorder	GBenign
Select item 3059969	NM_015027.4(PDXDC1):c.2205A>G (p.Leu735=)	PDXDC1	Single nucleotide variant (synonymous variant +1 more)	PDXDC1-related disorder	GBenign
Select item 3057757	NM_015027.4(PDXDC1):c.1746C>T (p.Asn582=)	PDXDC1	Single nucleotide variant (synonymous variant +1 more)	PDXDC1-related disorder	GLikely benign
Select item 3055725	NM_015027.4(PDXDC1):c.1823A>C (p.Asn608Thr)	PDXDC1 (N517T +5 more)	Single nucleotide variant (missense variant +1 more)	PDXDC1-related disorder	GLikely benign
Select item 3055664	NM_015027.4(PDXDC1):c.2002+6A>G	PDXDC1	Single nucleotide variant (intron variant)	PDXDC1-related disorder	GBenign
Select item 3043829	NM_015027.4(PDXDC1):c.1435G>A (p.Val479Ile)	PDXDC1 (V388I +5 more)	Single nucleotide variant (missense variant +1 more)	PDXDC1-related disorder	GLikely benign
Select item 3042864	NM_015027.4(PDXDC1):c.1938C>T (p.Ser646=)	PDXDC1	Single nucleotide variant (synonymous variant +1 more)	PDXDC1-related disorder	GLikely benign
Select item 3042569	NM_015027.4(PDXDC1):c.2343A>G (p.Val781=)	PDXDC1	Single nucleotide variant (synonymous variant +1 more)	PDXDC1-related disorder	GLikely benign
Select item 3034147	NM_015027.4(PDXDC1):c.2003-4G>A	PDXDC1	Single nucleotide variant (intron variant)	PDXDC1-related disorder	GLikely benign
Select item 3024598	GRCh37/hg19 16p13.11(chr16:15125592-15188090)x3	NTAN1, PDXDC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 3024597	GRCh37/hg19 16p13.11(chr16:14927578-16481355)x1	ABCC1, ABCC6 +13 more	Copy number loss	not provided	GPathogenic
Select item 3024596	GRCh37/hg19 16p13.11(chr16:14858860-16367932)x3	ABCC1, ABCC6 +14 more	Copy number gain	not provided	GLikely pathogenic
Select item 2685558	GRCh37/hg19 16p13.11(chr16:15054175-15319389)x1	NTAN1, PDXDC1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2684791	GRCh37/hg19 16p13.11-12.3(chr16:15058821-16837613)x3	ABCC1, ABCC6 +11 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684790	GRCh37/hg19 16p13.11(chr16:15054346-16309165)x3	ABCC1, ABCC6 +10 more	Copy number gain	not provided	GLikely pathogenic
Select item 2647150	GRCh37/hg19 16p13.11(chr16:14927709-16364041)x1	PDXDC1, RRN3 +13 more	Copy number loss	not provided	GPathogenic
Select item 2646248	NM_018427.5(RRN3):c.1854C>T (p.Thr618=)	PDXDC1, RRN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646247	NM_015027.4(PDXDC1):c.2162G>A (p.Ser721Asn)	PDXDC1 (S630N +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 2646245	NM_015027.4(PDXDC1):c.915G>A (p.Leu305=)	PDXDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621992	NM_018427.5(RRN3):c.203C>G (p.Thr68Arg)	PDXDC1, RRN3 (T68R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621315	NM_018427.5(RRN3):c.1660A>G (p.Asn554Asp)	PDXDC1, RRN3 (N524D +1 more)	Single nucleotide variant (missense variant +1 more)	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 2613759	NM_015027.4(PDXDC1):c.2326G>T (p.Asp776Tyr)	PDXDC1 (D685Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609764	NM_015027.4(PDXDC1):c.1733T>C (p.Met578Thr)	PDXDC1 (M487T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608892	NM_015027.4(PDXDC1):c.1748T>C (p.Val583Ala)	PDXDC1 (V556A +5 more)	Single nucleotide variant (missense variant +1 more)	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 2595740	NM_018427.5(RRN3):c.1429G>A (p.Gly477Arg)	PDXDC1, RRN3 (G477R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580341	GRCh37/hg19 16p13.11(chr16:14853752-16666672)x1	ABCC1, ABCC6 +14 more	Copy number loss	16p13.11 microdeletion syndrome	GPathogenic
Select item 2580319	GRCh37/hg19 16p13.11(chr16:15125542-16388672)x3	ABCC1, ABCC6 +11 more	Copy number gain	16p13.11 microduplication syndrome	GPathogenic
Select item 2570961	GRCh37/hg19 16p13.11(chr16:14819740-16364041)x3	ABCC1, ABCC6 +15 more	Copy number gain	not provided	GLikely pathogenic
Select item 2569094	NM_015027.4(PDXDC1):c.2090C>T (p.Thr697Ile)	PDXDC1 (T670I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558542	NM_018427.5(RRN3):c.698G>C (p.Ser233Thr)	PDXDC1, RRN3 (S203T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555854	NM_173474.4(NTAN1):c.232G>A (p.Val78Met)	NTAN1, PDXDC1 (V78M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2555352	NM_015027.4(PDXDC1):c.1278C>G (p.Asp426Glu)	PDXDC1 (D411E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547875	NM_015027.4(PDXDC1):c.2319C>A (p.His773Gln)	PDXDC1 (H745Q +5 more)	Single nucleotide variant (missense variant +1 more)	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
Select item 2539913	NM_018427.5(RRN3):c.1608G>T (p.Met536Ile)	PDXDC1, RRN3 (M506I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535968	NM_015027.4(PDXDC1):c.1484T>C (p.Leu495Ser)	PDXDC1 (L404S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529048	NM_018427.5(RRN3):c.589G>A (p.Val197Ile)	PDXDC1, RRN3 (V197I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528177	NM_173474.4(NTAN1):c.811A>G (p.Thr271Ala)	NTAN1, PDXDC1 (T166A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2519131	NM_015027.4(PDXDC1):c.2293G>A (p.Glu765Lys)	PDXDC1 (E738K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2500752	NC_000016.10:g.14683149_16205174dup	ABCC1, ABCC6 +46 more	Duplication	not specified	GUncertain significance
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 2498201	Single allele	ABCC1, ABCC6 +57 more	Deletion	16p13.11 recurrent microdeletion syndrome	GLikely pathogenic
Select item 2496281	NM_018427.5(RRN3):c.1490G>A (p.Ser497Asn)	PDXDC1, RRN3 (S467N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492817	NM_018427.5(RRN3):c.1642T>C (p.Ser548Pro)	PDXDC1, RRN3 (S548P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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