21343[HGNC] - ClinVar

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Items: 44

	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 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 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 57794	GRCh38/hg38 3q22.3(chr3:137593514-138443019)x3	A4GNT, ARMC8 +16 more	Copy number gain	See cases	GUncertain significance
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 2346415	NM_001363941.2(ARMC8):c.1408G>A (p.Val470Ile)	ARMC8, NME9 (V397I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129672	NM_001363941.2(ARMC8):c.1528A>G (p.Ser510Gly)	ARMC8, NME9 (S443G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129673	NM_001363941.2(ARMC8):c.1648A>G (p.Ser550Gly)	ARMC8, NME9 (S519G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277142	NM_001363941.2(ARMC8):c.1996A>G (p.Met666Val)	ARMC8, NME9 (M624V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1331617	NM_001363941.2(ARMC8):c.1998G>C (p.Met666Ile)	ARMC8, NME9 (M593I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 57795	GRCh38/hg38 3q22.3-23(chr3:138296035-139015548)x3	ARMC8, CEP70 +24 more	Copy number gain	See cases	GUncertain significance
Select item 2459924	NM_001349018.2(NME9):c.919G>A (p.Ala307Thr)	NME9 (A268T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472178	NM_001349018.2(NME9):c.845G>A (p.Arg282Gln)	NME9 (R192Q +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2404065	NM_001349018.2(NME9):c.832G>A (p.Val278Ile)	NME9 (V215I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515563	NM_001349018.2(NME9):c.808G>T (p.Gly270Cys)	NME9 (G270C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200821	NM_001349018.2(NME9):c.782A>G (p.Gln261Arg)	NME9 (Q198R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384511	NM_001349018.2(NME9):c.764A>G (p.Asn255Ser)	NME9 (N255S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620374	NM_001349018.2(NME9):c.754C>T (p.Arg252Cys)	NME9 (R191C +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2281737	NM_001349018.2(NME9):c.742G>A (p.Val248Ile)	NME9 (V209I +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 403245	NM_001349018.2(NME9):c.453G>A (p.Glu151=)	NME9	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2542888	NM_001349018.2(NME9):c.430G>A (p.Gly144Arg)	NME9 (G144R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406497	NM_001349018.2(NME9):c.248C>A (p.Pro83Gln)	NME9 (P61Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398024	NM_001349018.2(NME9):c.211C>T (p.Leu71Phe)	NME9 (L71F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380619	NM_001349018.2(NME9):c.200A>G (p.Glu67Gly)	NME9 (E16G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200820	NM_001349018.2(NME9):c.184C>T (p.His62Tyr)	NME9 (H40Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373069	NM_001349018.2(NME9):c.98A>C (p.Asp33Ala)	NME9 (D11A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2671581	Single allele	TFDP2, TRIM42 +26 more	Deletion	not provided	GPathogenic
Select item 2426786	NC_000003.11:g.(?_137781658)_(138665815_?)del	A4GNT, ARMC8 +9 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 686241	GRCh37/hg19 3q22.2-23(chr3:135186881-140826836)x3	A4GNT, ARMC8 +31 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 562819	GRCh37/hg19 3q22.3-23(chr3:138023193-140565017)x3	MRAS, PRR23A +16 more	Copy number gain	not provided	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: 44