23016[Gene ID] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2552801	NM_015004.4(EXOSC7):c.4G>T (p.Ala2Ser)	EXOSC7 (A2S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091217	NM_015004.4(EXOSC7):c.22G>C (p.Glu8Gln)	EXOSC7 (E8Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091218	NM_015004.4(EXOSC7):c.67C>T (p.Arg23Cys)	EXOSC7 (R23C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569202	NM_015004.4(EXOSC7):c.68G>A (p.Arg23His)	EXOSC7 (R23H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091222	NM_015004.4(EXOSC7):c.98G>A (p.Arg33Gln)	EXOSC7 (R33Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524891	NM_015004.4(EXOSC7):c.106G>A (p.Glu36Lys)	EXOSC7 (E36K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389346	NM_015004.4(EXOSC7):c.145G>A (p.Ala49Thr)	EXOSC7 (A49T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385590	NM_015004.4(EXOSC7):c.203C>T (p.Thr68Met)	EXOSC7 (T68M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276845	NM_015004.4(EXOSC7):c.266C>T (p.Ala89Val)	EXOSC7 (A89V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276846	NM_015004.4(EXOSC7):c.331C>T (p.Arg111Trp)	EXOSC7 (R111W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412458	NM_015004.4(EXOSC7):c.352A>G (p.Ser118Gly)	EXOSC7 (S118G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593580	NM_015004.4(EXOSC7):c.364A>C (p.Lys122Gln)	EXOSC7 (K122Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620644	NM_015004.4(EXOSC7):c.425T>C (p.Leu142Pro)	EXOSC7 (L142P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365692	NM_015004.4(EXOSC7):c.520G>A (p.Glu174Lys)	EXOSC7 (E174K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485480	NM_015004.4(EXOSC7):c.555C>G (p.Asp185Glu)	EXOSC7 (D185E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393757	NM_015004.4(EXOSC7):c.572G>A (p.Arg191Gln)	EXOSC7 (R191Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350702	NM_015004.4(EXOSC7):c.629A>G (p.His210Arg)	EXOSC7 (H210R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091219	NM_015004.4(EXOSC7):c.737G>C (p.Ser246Thr)	EXOSC7 (S246T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091221	NM_015004.4(EXOSC7):c.763A>T (p.Met255Leu)	EXOSC7 (M255L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245066	NM_015004.4(EXOSC7):c.763A>G (p.Met255Val)	EXOSC7 (M255V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616221	NM_015004.4(EXOSC7):c.836G>A (p.Ser279Asn)	EXOSC7 (S279N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685915	GRCh37/hg19 3p21.31(chr3:44563378-45177006)x3	CDCP1, CLEC3B +12 more	Copy number gain	not provided	GUncertain significance
Select item 2685079	GRCh37/hg19 3p21.31(chr3:44857814-45025105)x1	EXOSC7, KIF15 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 814439	GRCh37/hg19 3p21.31(chr3:44444902-45413927)x1	CDCP1, CLEC3B +16 more	Copy number loss	not provided	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	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 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 29