ClinVar for Gene (Select 6943) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324952	NM_003206.4(TCF21):c.128A>G (p.Asn43Ser)	TCF21 (N43S)	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 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 3039740	NM_003206.4(TCF21):c.94G>C (p.Val32Leu)	TCF21 (V32L)	Single nucleotide variant (missense variant)	TCF21-related disorder	GLikely benign
Select item 3036907	NM_003206.4(TCF21):c.450+10C>T	TCF21	Single nucleotide variant (intron variant)	TCF21-related disorder	GLikely benign
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 2589570	NM_003206.4(TCF21):c.58T>A (p.Cys20Ser)	TCF21 (C20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2492202	NM_003206.4(TCF21):c.521G>A (p.Cys174Tyr)	TCF21 (C174Y)	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 2377192	NM_003206.4(TCF21):c.385G>T (p.Ala129Ser)	TCF21 (A129S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2205515	NM_003206.4(TCF21):c.42G>T (p.Glu14Asp)	TCF21 (E14D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808956	GRCh37/hg19 6q23.2(chr6:133522860-134541311)x1	EYA4, SGK1 +3 more	Copy number loss	not provided	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	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 1278224	NC_000006.12:g.133888899C>T	TARID, TCF21	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1183604	NM_003206.4(TCF21):c.451-256A>G	TCF21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180549	GRCh37/hg19 6q23.2-24.1(chr6:133810210-140046615)x1	MYB, NHSL1 +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 769693	NM_003206.4(TCF21):c.270C>T (p.Ala90=)	TCF21	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 731660	NM_003206.4(TCF21):c.441G>T (p.Pro147=)	TCF21	Single nucleotide variant (synonymous variant)	not provided	GBenign
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)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +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
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 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 31