POPDC2[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 154658	GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1	ADPRH, ARHGAP31 +191 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	LOC129937337, LOC129937338 +199 more	Copy number loss	See cases	GPathogenic
Select item 154810	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4	ADPRH, ARHGAP31 +101 more	Copy number gain	See cases	GUncertain significance
Select item 146286	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120797026)x4	ADPRH, ARHGAP31 +100 more	Copy number gain	See cases	GUncertain significance
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 3216791	NM_001369919.2(POPDC2):c.*116C>T	POPDC2 (T361M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2600038	NM_001369919.2(POPDC2):c.973C>T (p.Arg325Trp)	POPDC2 (R325W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216803	NM_001369919.2(POPDC2):c.901C>G (p.Pro301Ala)	POPDC2 (P301A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385494	NM_001369919.2(POPDC2):c.859G>A (p.Glu287Lys)	POPDC2 (E287K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216801	NM_001369919.2(POPDC2):c.788G>A (p.Arg263His)	POPDC2 (R263H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377291	NM_001369919.2(POPDC2):c.701C>T (p.Ser234Leu)	POPDC2 (S234L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356901	NM_001369919.2(POPDC2):c.680G>A (p.Arg227Gln)	POPDC2 (R227Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281146	NM_001369919.2(POPDC2):c.660T>G (p.His220Gln)	POPDC2 (H220Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216800	NM_001369919.2(POPDC2):c.659A>G (p.His220Arg)	POPDC2 (H220R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357153	NM_001369919.2(POPDC2):c.659A>C (p.His220Pro)	POPDC2 (H220P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216798	NM_001369919.2(POPDC2):c.611C>G (p.Thr204Ser)	POPDC2 (T204S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205937	NM_001369919.2(POPDC2):c.598C>A (p.Gln200Lys)	POPDC2 (Q200K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615527	NM_001369919.2(POPDC2):c.580T>C (p.Ser194Pro)	POPDC2 (S194P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216797	NM_001369919.2(POPDC2):c.497G>T (p.Arg166Leu)	POPDC2 (R166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345973	NM_001369919.2(POPDC2):c.496C>T (p.Arg166Cys)	POPDC2 (R166C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216796	NM_001369919.2(POPDC2):c.466C>T (p.Arg156Cys)	POPDC2 (R156C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539522	NM_001369919.2(POPDC2):c.430C>A (p.Gln144Lys)	POPDC2 (Q144K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308926	NM_001369919.2(POPDC2):c.424A>G (p.Thr142Ala)	POPDC2 (T142A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349561	NM_001369919.2(POPDC2):c.405G>T (p.Glu135Asp)	POPDC2 (E135D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216795	NM_001369919.2(POPDC2):c.373A>T (p.Thr125Ser)	POPDC2 (T125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216794	NM_001369919.2(POPDC2):c.341C>T (p.Thr114Met)	POPDC2 (T114M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395720	NM_001369919.2(POPDC2):c.335A>G (p.Tyr112Cys)	POPDC2 (Y112C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308925	NM_001369919.2(POPDC2):c.299G>A (p.Arg100His)	POPDC2 (R100H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295321	NM_001369919.2(POPDC2):c.271C>G (p.Gln91Glu)	POPDC2 (Q91E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216793	NM_001369919.2(POPDC2):c.262T>C (p.Cys88Arg)	POPDC2 (C88R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352216	NM_001369919.2(POPDC2):c.197T>C (p.Leu66Pro)	POPDC2 (L66P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216792	NM_001369919.2(POPDC2):c.178G>C (p.Gly60Arg)	POPDC2 (G60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405470	NM_001369919.2(POPDC2):c.95T>C (p.Leu32Pro)	POPDC2 (L32P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547190	NM_001369919.2(POPDC2):c.83C>A (p.Ala28Asp)	POPDC2 (A28D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216802	NM_001369919.2(POPDC2):c.82G>A (p.Ala28Thr)	POPDC2 (A28T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373050	NM_001369919.2(POPDC2):c.44G>T (p.Gly15Val)	POPDC2 (G15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808592	GRCh37/hg19 3q13.31-13.33(chr3:116109191-120328013)x1	ADPRH, ARHGAP31 +20 more	Copy number loss	not provided	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527038	GRCh37/hg19 3q13.33(chr3:119354755-119773920)	CFAP91, COX17 +3 more	Copy number gain	not specified	GUncertain significance
Select item 562809	GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1	HCLS1, ARGFX +38 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 395633	GRCh37/hg19 3q13.33(chr3:119188677-119500751)x3	ADPRH, CD80 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253772	GRCh37/hg19 3q13.33(chr3:119188677-119500810)x3	CFAP91, PLA1A +7 more	Copy number gain	See cases	GUncertain significance

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Items: 51