ClinVar for Gene (Select 729515) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327010	NM_018452.6(TMEM242):c.382T>C (p.Ser128Pro)	TMEM242 (S128P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327009	NM_018452.6(TMEM242):c.11C>A (p.Ala4Glu)	LOC129997541, TMEM242 (A4E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327008	NM_018452.6(TMEM242):c.367A>G (p.Thr123Ala)	TMEM242 (T123A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3179258	NM_018452.6(TMEM242):c.16G>A (p.Ala6Thr)	LOC129997541, TMEM242 (A6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 2541269	NM_018452.6(TMEM242):c.358A>G (p.Ile120Val)	TMEM242 (I120V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488683	NM_018452.6(TMEM242):c.30G>C (p.Gln10His)	LOC129997541, TMEM242 (Q10H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488100	NM_018452.6(TMEM242):c.11C>G (p.Ala4Gly)	LOC129997541, TMEM242 (A4G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464187	NM_018452.6(TMEM242):c.119C>G (p.Ala40Gly)	TMEM242 (A40G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454976	NM_018452.6(TMEM242):c.341G>A (p.Arg114Gln)	TMEM242 (R114Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356758	NM_018452.6(TMEM242):c.332A>G (p.Asn111Ser)	TMEM242 (N111S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346547	NM_018452.6(TMEM242):c.32C>T (p.Pro11Leu)	LOC129997541, TMEM242 (P11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316118	NM_018452.6(TMEM242):c.284G>A (p.Gly95Asp)	TMEM242 (G95D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315605	NM_018452.6(TMEM242):c.26G>A (p.Gly9Glu)	LOC129997541, TMEM242 (G9E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301313	NM_018452.6(TMEM242):c.151T>C (p.Ser51Pro)	TMEM242 (S51P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708184	GRCh37/hg19 6q25.3-27(chr6:157318401-165233548)x1	MAS1, MRPL18 +33 more	Copy number loss	See cases	GPathogenic
Select item 1527316	GRCh37/hg19 6q25.3(chr6:157473931-157870049)	ARID1B, TMEM242 +1 more	Copy number loss	not specified	GPathogenic
Select item 1527314	GRCh37/hg19 6q25.3(chr6:157261376-157964661)	ARID1B, TMEM242 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527313	GRCh37/hg19 6q25.3(chr6:157252559-157713777)	ARID1B, TMEM242	Copy number gain	not specified	GUncertain significance
Select item 1527312	GRCh37/hg19 6q25.3(chr6:156654463-157964661)	ARID1B, TMEM242 +1 more	Copy number loss	not specified	GPathogenic
Select item 1527310	GRCh37/hg19 6q25.3(chr6:155525920-159889169)	ARID1B, CLDN20 +18 more	Copy number loss	not specified	GPathogenic
Select item 1527309	GRCh37/hg19 6q25.2-25.3(chr6:153647248-158255989)	ARID1B, CLDN20 +10 more	Copy number loss	not specified	GPathogenic
Select item 1527308	GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	ACAT2, AGPAT4 +44 more	Copy number loss	not specified	GPathogenic
Select item 1047882	GRCh37/hg19 6q25.2-25.3(chr6:155308263-158394005)	ARID1B, CLDN20 +6 more	Copy number loss	Corpus callosum, agenesis of +3 more	GPathogenic
Select item 979581	GRCh37/hg19 6q25.3(chr6:157715222-157964661)x3	TMEM242, ZDHHC14	Copy number gain	not provided	GUncertain significance
Select item 814886	GRCh37/hg19 6q25.3(chr6:156654463-157964661)x3	ZDHHC14, ARID1B +1 more	Copy number gain	not provided	GUncertain significance
Select item 687358	GRCh37/hg19 6q25.3(chr6:157262571-160992289)x3	ACAT2, AIRN +27 more	Copy number gain	not provided	GUncertain significance
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 more	Copy number gain	not provided	GPathogenic
Select item 685045	GRCh37/hg19 6q25.2-25.3(chr6:155426680-158863541)x3	TIAM2, TMEM242 +10 more	Copy number gain	not provided	GUncertain significance
Select item 625549	GRCh37/hg19 6q25.3(chr6:156858484-157854806)	ARID1B, TMEM242 +1 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 563244	GRCh37/hg19 6q25.3(chr6:157431679-157978958)x3	ZDHHC14, TMEM242 +1 more	Copy number gain	not provided	GUncertain significance
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 523303	GRCh37/hg19 6q25.3(chr6:156772218-157870875)x3	ARID1B, TMEM242 +1 more	Copy number gain	Hypotonia +7 more	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic
Select item 242863	Single allele	TMEM242, ZDHHC14 +2 more	Deletion	Long eyelashes +5 more	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 154650	GRCh38/hg38 6q25.3(chr6:156353632-157547741)x3	ARID1B, LOC105378073 +58 more	Copy number gain	See cases	GLikely benign
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	ACAT2, AFDN +571 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	ACAT2, AFDN +563 more	Copy number loss	See cases	GPathogenic
Select item 152403	GRCh38/hg38 6q25.3(chr6:157209928-157433541)x3	ARID1B, LOC123881346 +10 more	Copy number gain	See cases	GLikely benign
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 more	Copy number loss	See cases	GPathogenic
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	SOD2, SOD2-OT1 +270 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	ACAT2, AFDN +539 more	Copy number loss	See cases	GPathogenic
Select item 147313	GRCh38/hg38 6q25.3(chr6:156353632-157449782)x1	ARID1B, LOC105378073 +55 more	Copy number loss	See cases	GPathogenic
Select item 146050	GRCh38/hg38 6q25.3(chr6:156353632-157547682)x1	ARID1B, LOC105378073 +58 more	Copy number loss	See cases	GUncertain significance
Select item 145547	GRCh38/hg38 6q25.2-25.3(chr6:154178964-159020369)x1	ARID1B, CLDN20 +188 more	Copy number loss	See cases	GLikely pathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	LOC129997707, LOC129997708 +548 more	Copy number loss	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	FBXO5, FNDC1 +865 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 52