TFDP2[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 145313	GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1	A4GNT, ARMC8 +171 more	Copy number loss	See cases	GPathogenic
Select item 150251	GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1	A4GNT, ARMC8 +155 more	Copy number loss	See cases	GPathogenic
Select item 57835	GRCh38/hg38 3q23-24(chr3:141751960-148246189)x1	ATP1B3, ATR +107 more	Copy number loss	See cases	GPathogenic
Select item 2602930	NM_001178139.2(TFDP2):c.1292A>G (p.Asn431Ser)	TFDP2 (N295S +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176499	NM_001178139.2(TFDP2):c.1277C>A (p.Thr426Asn)	TFDP2 (T365N +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283966	NM_001178139.2(TFDP2):c.1179G>T (p.Leu393Phe)	TFDP2 (L333F +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218606	NM_001178139.2(TFDP2):c.1159G>A (p.Val387Ile)	TFDP2 (V359I +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176498	NM_001178139.2(TFDP2):c.1132A>G (p.Thr378Ala)	TFDP2 (T318A +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325624	NM_001178139.2(TFDP2):c.1040G>T (p.Gly347Val)	TFDP2 (G211V +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558163	NM_001178139.2(TFDP2):c.950G>A (p.Arg317Gln)	TFDP2 (R257Q +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508321	NM_001178139.2(TFDP2):c.949C>T (p.Arg317Trp)	TFDP2 (R204W +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541235	NM_001178139.2(TFDP2):c.797C>A (p.Pro266Gln)	TFDP2 (P244Q +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176504	NM_001178139.2(TFDP2):c.739G>A (p.Ala247Thr)	TFDP2 (A230T +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176503	NM_001178139.2(TFDP2):c.677G>A (p.Arg226Lys)	TFDP2 (R209K +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325625	NM_001178139.2(TFDP2):c.646G>C (p.Glu216Gln)	TFDP2 (E103Q +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176502	NM_001178139.2(TFDP2):c.496A>G (p.Asn166Asp)	TFDP2 (N138D +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213006	NM_001178139.2(TFDP2):c.376G>A (p.Asp126Asn)	TFDP2 (D104N +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176501	NM_001178139.2(TFDP2):c.362G>A (p.Arg121Gln)	TFDP2 (R104Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176500	NM_001178139.2(TFDP2):c.173T>C (p.Val58Ala)	TFDP2 (V41A +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2518951	NM_001178139.2(TFDP2):c.136A>G (p.Ile46Val)	TFDP2 (I46V +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2613712	NM_001178139.2(TFDP2):c.119C>T (p.Thr40Ile)	TFDP2 (T23I +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2529407	NM_001178139.2(TFDP2):c.86A>G (p.Asn29Ser)	TFDP2 (N12S +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 144864	GRCh38/hg38 3q23(chr3:142113086-142334267)x3	GK5, LOC112903842 +6 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 3247002	NC_000003.11:g.(?_141102833)_(142184102_?)del	ATP1B3, ATR +7 more	Deletion	not provided	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2671581	Single allele	TFDP2, TRIM42 +26 more	Deletion	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 980063	GRCh37/hg19 3q23(chr3:138737687-142053396)x1	PRR23C, CLSTN2 +18 more	Copy number loss	not provided	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 625695	GRCh37/hg19 3q22.2-24(chr3:135288025-146874012)	A4GNT, ARMC8 +54 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393964	GRCh37/hg19 3q23(chr3:141867689-142051761)x3	GK5, TFDP2 +1 more	Copy number gain	See cases	GBenign/Likely benign
Select item 393939	GRCh37/hg19 3q23(chr3:141810106-141904777)x3	GK5, TFDP2	Copy number gain	See cases	GBenign
Select item 253333	GRCh37/hg19 3q22.3-23(chr3:135935129-141867748)x3	ARMC8, ZBTB38 +36 more	Copy number gain	See cases	GLikely pathogenic

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Items: 42