28751[HGNC] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 152517	GRCh38/hg38 2q22.3-23.2(chr2:145471053-149582570)x1	ACVR2A, EPC2 +54 more	Copy number loss	See cases	GPathogenic
Select item 154515	GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3	ACVR2A, ARL5A +146 more	Copy number gain	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic
Select item 60217	GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1	ACVR2A, ARL5A +119 more	Copy number loss	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 3292390	NM_194317.5(LYPD6):c.65C>T (p.Ala22Val)	LYPD6 (A22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610656	NM_194317.5(LYPD6):c.136G>A (p.Gly46Arg)	LYPD6 (G46R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334567	NM_194317.5(LYPD6):c.278C>T (p.Thr93Ile)	LYPD6 (T93I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746867	NM_194317.5(LYPD6):c.318C>T (p.Gly106=)	LYPD6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2482103	NM_194317.5(LYPD6):c.320G>T (p.Cys107Phe)	LYPD6 (C107F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309280	NM_194317.5(LYPD6):c.397C>G (p.Arg133Gly)	LYPD6 (R133G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292389	NM_194317.5(LYPD6):c.415A>G (p.Thr139Ala)	LYPD6 (T139A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378215	NM_194317.5(LYPD6):c.425C>T (p.Thr142Met)	LYPD6 (T142M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227575	NM_194317.5(LYPD6):c.428C>T (p.Thr143Met)	LYPD6 (T143M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601039	NM_194317.5(LYPD6):c.442C>G (p.Gln148Glu)	LYPD6 (Q148E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684742	GRCh37/hg19 2q22.3-23.3(chr2:148406827-152954124)x1	ACVR2A, ARL5A +13 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526917	GRCh37/hg19 2q23.1-23.3(chr2:148954840-150800195)	EPC2, LYPD6 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1526906	GRCh37/hg19 2q22.2-23.3(chr2:143258712-152867819)	ACVR2A, ARHGAP15 +17 more	Copy number loss	not specified	GPathogenic
Select item 1341063	GRCh37/hg19 2q22.2-23.3(chr2:142409401-152680804)x3	ACVR2A, ARHGAP15 +17 more	Copy number gain	not provided	GPathogenic
Select item 1047890	GRCh37/hg19 2q21.3-23.3(chr2:136473383-152727396)	ACVR2A, ARHGAP15 +28 more	Copy number gain	Global developmental delay +2 more	GPathogenic
Select item 814323	GRCh37/hg19 2q23.2-23.3(chr2:150322682-150616331)x3	LYPD6, MMADHC	Copy number gain	not provided	GUncertain significance
Select item 814314	GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1	ARL6IP6, CACNB4 +25 more	Copy number loss	not provided	GPathogenic
Select item 562665	GRCh37/hg19 2q23.2-23.3(chr2:150134077-154848282)x1	ARL5A, ARL6IP6 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442694	GRCh37/hg19 2q22.3-23.3(chr2:146913477-151531586)x1	ACVR2A, EPC2 +6 more	Copy number loss	See cases	GPathogenic
Select item 395440	GRCh37/hg19 2q23.1-23.3(chr2:148842506-152370040)x1	EPC2, LYPD6 +9 more	Copy number loss	See cases	GPathogenic
Select item 253848	GRCh37/hg19 2q23.1-23.3(chr2:149811293-151128706)x3	MMADHC, LYPD6 +1 more	Copy number gain	See cases	GUncertain significance

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Items: 31