TMEM222[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 59928	GRCh38/hg38 1p36.11-35.3(chr1:26807012-27685191)x1	AHDC1, CD164L2 +98 more	Copy number loss	See cases	GPathogenic
Select item 148586	GRCh38/hg38 1p36.11-35.3(chr1:26854636-27645829)x1	AHDC1, CD164L2 +88 more	Copy number loss	See cases	GUncertain significance
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 2404103	NM_032125.3(TMEM222):c.29T>C (p.Leu10Pro)	TMEM222 (L10P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309736	NM_032125.3(TMEM222):c.37C>T (p.Pro13Ser)	TMEM222 (P13S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510490	NM_032125.3(TMEM222):c.38C>T (p.Pro13Leu)	TMEM222 (P13L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2563272	NM_032125.3(TMEM222):c.83C>A (p.Thr28Lys)	TMEM222 (T28K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203792	NM_032125.3(TMEM222):c.94A>G (p.Thr32Ala)	TMEM222 (T32A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317609	NM_032125.3(TMEM222):c.187G>T (p.Val63Leu)	TMEM222 (V63L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1195882	NM_032125.3(TMEM222):c.207dup (p.Ile70fs)	TMEM222 (I70fs)	Duplication (frameshift variant +1 more)	Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities	GPathogenic
Select item 1195880	NM_032125.3(TMEM222):c.214G>A (p.Gly72Ser)	TMEM222 (G72S)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities	GPathogenic
Select item 2294971	NM_032125.3(TMEM222):c.307G>A (p.Ala103Thr)	TMEM222 (A103T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221422	NM_032125.3(TMEM222):c.312-5C>A	TMEM222	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2396922	NM_032125.3(TMEM222):c.312G>A (p.Lys104=)	TMEM222	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1195883	NM_032125.3(TMEM222):c.334C>T (p.Gln112Ter)	TMEM222 (Q112*)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities	GPathogenic
Select item 2539798	NM_032125.3(TMEM222):c.335A>G (p.Gln112Arg)	TMEM222 (Q112R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234055	NM_032125.3(TMEM222):c.349G>A (p.Gly117Arg)	TMEM222 (G117R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068293	NM_032125.3(TMEM222):c.479G>A (p.Ser160Asn)	TMEM222 (S160N)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities	GUncertain significance
Select item 2570717	NM_032125.3(TMEM222):c.501G>A (p.Thr167=)	TMEM222	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3043825	NM_032125.3(TMEM222):c.509T>G (p.Phe170Cys)	TMEM222 (F170C)	Single nucleotide variant (missense variant +1 more)	TMEM222-related disorder	GLikely benign
Select item 1195879	NM_032125.3(TMEM222):c.535_537del (p.Val179del)	TMEM222 (V179del)	Deletion (inframe_deletion +1 more)	Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities	GPathogenic
Select item 2355500	NM_032125.3(TMEM222):c.535G>A (p.Val179Ile)	TMEM222 (V179I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1195881	NM_032125.3(TMEM222):c.539+2T>C	TMEM222	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities	GPathogenic
Select item 2570472	NM_032125.3(TMEM222):c.553G>C (p.Val185Leu)	TMEM222 (V185L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1675354	NM_032125.3(TMEM222):c.594C>T (p.Ile198=)	TMEM222	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638556	NM_032125.3(TMEM222):c.622C>T (p.Arg208Trp)	TMEM222 (R208W)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 1526429	GRCh37/hg19 1p36.11-35.3(chr1:27488298-28138628)	AHDC1, CD164L2 +11 more	Copy number loss	not specified	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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Items: 33