ClinVar for Gene (Select 23784) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308999	NM_001136213.1(POTEH):c.406G>A (p.Gly136Ser)	POTEH (G136S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308998	NM_001136213.1(POTEH):c.271A>G (p.Met91Val)	POTEH (M91V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308997	NM_001136213.1(POTEH):c.446G>A (p.Ser149Asn)	POTEH (S149N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308996	NM_001136213.1(POTEH):c.469T>G (p.Trp157Gly)	POTEH (W157G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308995	NM_001136213.1(POTEH):c.391C>G (p.Leu131Val)	POTEH (L131V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216865	NM_001136213.1(POTEH):c.86G>A (p.Arg29His)	POTEH (R29H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216864	NM_001136213.1(POTEH):c.85C>T (p.Arg29Cys)	POTEH (R29C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3216862	NM_001136213.1(POTEH):c.419G>A (p.Cys140Tyr)	POTEH (C140Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216861	NM_001136213.1(POTEH):c.329G>C (p.Arg110Thr)	POTEH (R110T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216860	NM_001136213.1(POTEH):c.320C>T (p.Pro107Leu)	POTEH (P107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216859	NM_001136213.1(POTEH):c.278C>G (p.Thr93Arg)	POTEH (T93R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216858	NM_001136213.1(POTEH):c.197G>C (p.Cys66Ser)	POTEH (C66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216857	NM_001136213.1(POTEH):c.192G>C (p.Trp64Cys)	POTEH (W64C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216856	NM_001136213.1(POTEH):c.183G>T (p.Met61Ile)	POTEH (M61I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216855	NM_001136213.1(POTEH):c.1603G>A (p.Glu535Lys)	POTEH (E535K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216854	NM_001136213.1(POTEH):c.1391T>C (p.Met464Thr)	POTEH (M464T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216853	NM_001136213.1(POTEH):c.134C>T (p.Thr45Ile)	POTEH (T45I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216852	NM_001136213.1(POTEH):c.134C>G (p.Thr45Ser)	POTEH (T45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652837	NM_001136213.1(POTEH):c.1485G>A (p.Gln495=)	POTEH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652836	NM_001136213.1(POTEH):c.1539T>A (p.Thr513=)	POTEH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621077	NM_001136213.1(POTEH):c.1481G>T (p.Ser494Ile)	POTEH (S494I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607849	NM_001136213.1(POTEH):c.140G>A (p.Gly47Glu)	POTEH (G47E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597876	NM_001136213.1(POTEH):c.1522G>A (p.Asp508Asn)	POTEH (D508N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595434	NM_001136213.1(POTEH):c.441G>T (p.Arg147Ser)	POTEH (R147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595433	NM_001136213.1(POTEH):c.437G>T (p.Cys146Phe)	POTEH (C146F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539432	NM_001136213.1(POTEH):c.1295A>G (p.Asn432Ser)	POTEH (N432S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524578	NM_001136213.1(POTEH):c.518G>A (p.Arg173His)	POTEH (R173H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520713	NM_001136213.1(POTEH):c.100T>G (p.Trp34Gly)	POTEH (W34G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510042	NM_001136213.1(POTEH):c.151G>A (p.Asp51Asn)	POTEH (D51N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494917	NM_001136213.1(POTEH):c.517C>A (p.Arg173Ser)	POTEH (R173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487103	NM_001136213.1(POTEH):c.512A>G (p.His171Arg)	POTEH (H171R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458421	NM_001136213.1(POTEH):c.557G>C (p.Trp186Ser)	POTEH (W186S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387493	NM_001136213.1(POTEH):c.1132G>A (p.Ala378Thr)	POTEH (A378T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376690	NM_001136213.1(POTEH):c.1172G>A (p.Cys391Tyr)	POTEH, POTEH-AS1 (C391Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318970	NM_001136213.1(POTEH):c.486C>A (p.Asp162Glu)	POTEH (D162E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309418	NM_001136213.1(POTEH):c.517C>T (p.Arg173Cys)	POTEH (R173C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235519	NM_001136213.1(POTEH):c.455A>G (p.Asn152Ser)	POTEH (N152S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2225094	NM_001136213.1(POTEH):c.751G>A (p.Val251Ile)	POTEH (V251I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2216579	NM_001136213.1(POTEH):c.208C>T (p.Pro70Ser)	POTEH (P70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216090	NM_001136213.1(POTEH):c.907G>A (p.Glu303Lys)	POTEH (E303K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 446351	GRCh37/hg19 22q11.1-11.21(chr22:16114244-18917748)x4	ADA2, ATP6V1E1 +19 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253473	GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	ADA2, ADORA2A +135 more	Copy number gain	See cases	GPathogenic
Select item 253399	GRCh37/hg19 22q11.1-11.21(chr22:16054691-18650708)x4	CECR2, GAB4 +17 more	Copy number gain	See cases	GPathogenic
Select item 150866	GRCh38/hg38 22p11.2-q11.1(chr22:10874347-15903760)x4	LOC102723769, OR11H1 +3 more	Copy number gain	See cases	GPathogenic
Select item 148896	GRCh38/hg38 22p11.2-q11.1(chr22:10874347-15903760)x1	LOC102723769, OR11H1 +3 more	Copy number loss	See cases	GLikely pathogenic
Select item 148560	GRCh38/hg38 22p11.2-q11.1(chr22:10874347-15903760)x3	LOC102723769, OR11H1 +3 more	Copy number gain	See cases	GPathogenic
Select item 148188	GRCh38/hg38 22q11.1-11.21(chr22:10874347-15903760)x3	LOC102723769, OR11H1 +3 more	Copy number gain	See cases	GPathogenic
Select item 146953	GRCh37/hg19 22q11.1(chr22:16087694-16417038)x3	POTEH	Copy number gain	See cases	GBenign
Select item 145115	GRCh37/hg19 22q11.1(chr22:16054691-17450189)x3	CCT8L2, GAB4 +3 more	Copy number gain	See cases	GBenign
Select item 59276	GRCh38/hg38 22q11.1-11.21(chr22:11119188-16489297)x3	LOC102723769, LOC129391256 +4 more	Copy number gain	See cases	GPathogenic
Select item 59275	GRCh38/hg38 22q11.1-11.21(chr22:11121452-18167952)x3	CECR7, GAB4 +116 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 55