389152[Gene ID] - ClinVar

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Items: 54

	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 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC126806816, LOC126806817 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	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 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 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 148956	GRCh38/hg38 3q22.3-23(chr3:138529348-139056446)x3	CEP70, FAIM +22 more	Copy number gain	See cases	GUncertain significance
Select item 148711	GRCh38/hg38 3q22.3-23(chr3:138529348-139130105)x3	BPESC1, CEP70 +23 more	Copy number gain	See cases	GUncertain significance
Select item 147602	GRCh38/hg38 3q22.3-23(chr3:138629115-140055056)x3	BPESC1, CLSTN2 +39 more	Copy number gain	See cases	GPathogenic
Select item 2543897	NM_001134657.1(PRR23C):c.776T>G (p.Leu259Arg)	PRR23C (L259R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219427	NM_001134657.1(PRR23C):c.770G>A (p.Arg257Lys)	PRR23C (R257K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219426	NM_001134657.1(PRR23C):c.659A>G (p.His220Arg)	PRR23C (H220R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219425	NM_001134657.1(PRR23C):c.593G>A (p.Cys198Tyr)	PRR23C (C198Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219424	NM_001134657.1(PRR23C):c.560G>T (p.Ser187Ile)	PRR23C (S187I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468543	NM_001134657.1(PRR23C):c.556T>C (p.Phe186Leu)	PRR23C (F186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219423	NM_001134657.1(PRR23C):c.544G>T (p.Ala182Ser)	PRR23C (A182S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219422	NM_001134657.1(PRR23C):c.536A>G (p.Tyr179Cys)	PRR23C (Y179C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219421	NM_001134657.1(PRR23C):c.535T>C (p.Tyr179His)	PRR23C (Y179H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524066	NM_001134657.1(PRR23C):c.476C>T (p.Ala159Val)	PRR23C (A159V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219419	NM_001134657.1(PRR23C):c.353G>C (p.Trp118Ser)	PRR23C (W118S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3219418	NM_001134657.1(PRR23C):c.349G>A (p.Asp117Asn)	PRR23C (D117N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219417	NM_001134657.1(PRR23C):c.307G>A (p.Val103Ile)	PRR23C (V103I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464107	NM_001134657.1(PRR23C):c.272C>T (p.Ser91Phe)	PRR23C (S91F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219416	NM_001134657.1(PRR23C):c.222G>C (p.Glu74Asp)	PRR23C (E74D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2255784	NM_001134657.1(PRR23C):c.220G>A (p.Glu74Lys)	PRR23C (E74K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345690	NM_001134657.1(PRR23C):c.217C>A (p.Leu73Met)	PRR23C (L73M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219415	NM_001134657.1(PRR23C):c.211G>A (p.Val71Met)	PRR23C (V71M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370384	NM_001134657.1(PRR23C):c.194C>T (p.Ala65Val)	PRR23C (A65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340743	NM_001134657.1(PRR23C):c.181G>A (p.Val61Met)	PRR23C (V61M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328210	NM_001134657.1(PRR23C):c.178A>G (p.Met60Val)	PRR23C (M60V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2289510	NM_001134657.1(PRR23C):c.169C>A (p.Leu57Ile)	PRR23C (L57I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376853	NM_001134657.1(PRR23C):c.99G>T (p.Glu33Asp)	PRR23C (E33D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595358	NM_001134657.1(PRR23C):c.49G>A (p.Gly17Arg)	PRR23C (G17R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671581	Single allele	TFDP2, TRIM42 +26 more	Deletion	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 1411280	NC_000003.11:g.(?_137781658)_(139258560_?)dup	A4GNT, ARMC8 +17 more	Duplication	not provided	GUncertain significance
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 980063	GRCh37/hg19 3q23(chr3:138737687-142053396)x1	PRR23C, CLSTN2 +18 more	Copy number loss	not provided	GPathogenic
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 687625	GRCh37/hg19 3q22.3-23(chr3:138220588-138777135)x3	CEP70, FAIM +6 more	Copy number gain	not provided	GUncertain significance
Select item 686241	GRCh37/hg19 3q22.2-23(chr3:135186881-140826836)x3	A4GNT, ARMC8 +31 more	Copy number gain	not provided	GUncertain significance
Select item 685423	GRCh37/hg19 3q22.3-23(chr3:138253995-138769278)x3	CEP70, FAIM +6 more	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 562821	GRCh37/hg19 3q22.3-23(chr3:138525030-139146538)x1	FOXL2NB, PRR23A +5 more	Copy number loss	not provided	GPathogenic
Select item 562819	GRCh37/hg19 3q22.3-23(chr3:138023193-140565017)x3	MRAS, PRR23A +16 more	Copy number gain	not provided	GUncertain significance
Select item 442405	GRCh37/hg19 3q22.3-23(chr3:138413416-139096053)x3	COPB2, FOXL2 +6 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
Select item 253333	GRCh37/hg19 3q22.3-23(chr3:135935129-141867748)x3	ARMC8, ZBTB38 +36 more	Copy number gain	See cases	GLikely pathogenic

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Items: 54