TCF21[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 1278224	NR_109982.1(TARID):n.108G>A	TARID, TCF21	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 2493678	NM_003206.4(TCF21):c.32A>G (p.Asp11Gly)	TCF21 (D11G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205515	NM_003206.4(TCF21):c.42G>T (p.Glu14Asp)	TCF21 (E14D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589570	NM_003206.4(TCF21):c.58T>A (p.Cys20Ser)	TCF21 (C20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 167872	NM_003206.4(TCF21):c.63C>G (p.Asp21Glu)	TCF21 (D21E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3039740	NM_003206.4(TCF21):c.94G>C (p.Val32Leu)	TCF21 (V32L)	Single nucleotide variant (missense variant)	TCF21-related condition	GLikely benign
Select item 769693	NM_003206.4(TCF21):c.270C>T (p.Ala90=)	TCF21	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2377192	NM_003206.4(TCF21):c.385G>T (p.Ala129Ser)	TCF21 (A129S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175123	NM_003206.4(TCF21):c.412G>A (p.Asp138Asn)	TCF21 (D138N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389452	NM_003206.4(TCF21):c.418T>C (p.Tyr140His)	TCF21 (Y140H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731660	NM_003206.4(TCF21):c.441G>T (p.Pro147=)	TCF21	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3036907	NM_003206.4(TCF21):c.450+10C>T	TCF21	Single nucleotide variant (intron variant)	TCF21-related condition	GLikely benign
Select item 1183604	NM_003206.4(TCF21):c.451-256A>G	TCF21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2268305	NM_003206.4(TCF21):c.515G>A (p.Arg172His)	TCF21 (R172H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492202	NM_003206.4(TCF21):c.521G>A (p.Cys174Tyr)	TCF21 (C174Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 1808956	GRCh37/hg19 6q23.2(chr6:133522860-134541311)x1	EYA4, SGK1 +3 more	Copy number loss	not provided	GPathogenic
Select item 1340932	GRCh37/hg19 6q23.1-23.3(chr6:130769034-136009217)x1	AHI1, AKAP7 +30 more	Copy number loss	not provided	GPathogenic
Select item 1180549	GRCh37/hg19 6q23.2-24.1(chr6:133810210-140046615)x1	ABRACL, AHI1 +32 more	Copy number loss	not provided	GPathogenic
Select item 814871	GRCh37/hg19 6q23.2-24.1(chr6:133817341-140038401)x1	SLC35D3, IFNGR1 +32 more	Copy number loss	not provided	GPathogenic
Select item 563236	GRCh37/hg19 6q23.2-23.3(chr6:132002460-137160850)x1	ALDH8A1, PDE7B +31 more	Copy number loss	not provided	GPathogenic
Select item 563235	GRCh37/hg19 6q23.2-23.3(chr6:131388023-137469640)x1	ALDH8A1, VNN2 +37 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 441897	GRCh37/hg19 6q23.2-24.2(chr6:133077239-143761582)x1	ABRACL, ADAT2 +41 more	Copy number loss	See cases	GPathogenic

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Items: 30