PCOLCE2[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	LOC129937649, LOC129937650 +301 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 145313	GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1	A4GNT, ARMC8 +171 more	Copy number loss	See cases	GPathogenic
Select item 150251	GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1	A4GNT, ARMC8 +155 more	Copy number loss	See cases	GPathogenic
Select item 57835	GRCh38/hg38 3q23-24(chr3:141751960-148246189)x1	ATP1B3, ATR +107 more	Copy number loss	See cases	GPathogenic
Select item 146560	GRCh38/hg38 3q23-24(chr3:142780798-146233927)x1	CHST2, DIPK2A +49 more	Copy number loss	See cases	GUncertain significance
Select item 2365935	NM_013363.4(PCOLCE2):c.1194G>A (p.Met398Ile)	PCOLCE2 (M398I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569843	NM_013363.4(PCOLCE2):c.1181G>A (p.Ser394Asn)	PCOLCE2 (S394N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210409	NM_013363.4(PCOLCE2):c.1138G>A (p.Gly380Ser)	PCOLCE2 (G380S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597865	NM_013363.4(PCOLCE2):c.1032G>C (p.Glu344Asp)	PCOLCE2 (E344D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210420	NM_013363.4(PCOLCE2):c.985G>A (p.Asp329Asn)	PCOLCE2 (D329N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210418	NM_013363.4(PCOLCE2):c.914G>A (p.Gly305Glu)	PCOLCE2 (G305E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458660	NM_013363.4(PCOLCE2):c.863C>T (p.Thr288Met)	PCOLCE2 (T288M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210417	NM_013363.4(PCOLCE2):c.824C>G (p.Thr275Ser)	PCOLCE2 (T275S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390317	NM_013363.4(PCOLCE2):c.743T>C (p.Ile248Thr)	PCOLCE2 (I248T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256431	NM_013363.4(PCOLCE2):c.667G>A (p.Asp223Asn)	PCOLCE2 (D223N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318181	NM_013363.4(PCOLCE2):c.569A>G (p.Asn190Ser)	PCOLCE2 (N190S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210416	NM_013363.4(PCOLCE2):c.535G>A (p.Val179Ile)	PCOLCE2 (V179I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599134	NM_013363.4(PCOLCE2):c.517C>T (p.Arg173Trp)	PCOLCE2 (R173W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491775	NM_013363.4(PCOLCE2):c.484T>G (p.Ser162Ala)	PCOLCE2 (S162A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611828	NM_013363.4(PCOLCE2):c.436C>T (p.Pro146Ser)	PCOLCE2 (P146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210414	NM_013363.4(PCOLCE2):c.427G>A (p.Ala143Thr)	PCOLCE2 (A143T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616974	NM_013363.4(PCOLCE2):c.401G>A (p.Gly134Asp)	PCOLCE2 (G134D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344693	NM_013363.4(PCOLCE2):c.332G>A (p.Arg111Gln)	PCOLCE2 (R111Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210413	NM_013363.4(PCOLCE2):c.304C>T (p.Arg102Cys)	PCOLCE2 (R102C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287989	NM_013363.4(PCOLCE2):c.278T>C (p.Val93Ala)	PCOLCE2 (V93A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210412	NM_013363.4(PCOLCE2):c.232A>G (p.Ile78Val)	PCOLCE2 (I78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267633	NM_013363.4(PCOLCE2):c.199G>A (p.Glu67Lys)	PCOLCE2 (E67K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514383	NM_013363.4(PCOLCE2):c.101G>T (p.Gly34Val)	PCOLCE2 (G34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210419	NM_013363.4(PCOLCE2):c.97T>A (p.Cys33Ser)	PCOLCE2 (C33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529646	NM_013363.4(PCOLCE2):c.62C>T (p.Ser21Leu)	PCOLCE2 (S21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376004	NM_013363.4(PCOLCE2):c.37C>A (p.Leu13Met)	PCOLCE2 (L13M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210410	NM_013363.4(PCOLCE2):c.16G>A (p.Ala6Thr)	PCOLCE2 (A6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685934	GRCh37/hg19 3q23(chr3:142542266-142690925)x3	PAQR9, PCOLCE2	Copy number gain	not provided	GUncertain significance
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
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 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	CHST2, CLRN1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 980065	GRCh37/hg19 3q23-24(chr3:142542265-142896504)x3	PCOLCE2, U2SURP +2 more	Copy number gain	not provided	GUncertain significance
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 685903	GRCh37/hg19 3q23(chr3:142542448-142691844)x3	PAQR9, PCOLCE2	Copy number gain	not provided	GUncertain significance
Select item 625695	GRCh37/hg19 3q22.2-24(chr3:135288025-146874012)	A4GNT, ARMC8 +54 more	Copy number gain	not provided	GPathogenic
Select item 503573	GRCh37/hg19 3q23(chr3:142272098-142691972)x3	ATR, PAQR9 +3 more	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic

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Items: 48