284408[Gene ID] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 2406806	NM_206894.4(ZNF790):c.1885A>G (p.Ser629Gly)	ZNF790, ZNF790-AS1 (S629G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527100	NM_206894.4(ZNF790):c.1838T>C (p.Phe613Ser)	ZNF790, ZNF790-AS1 (F613S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198428	NM_206894.4(ZNF790):c.1829T>G (p.Ile610Ser)	ZNF790, ZNF790-AS1 (I610S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339799	NM_206894.4(ZNF790):c.1781A>C (p.Tyr594Ser)	ZNF790, ZNF790-AS1 (Y594S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403994	NM_206894.4(ZNF790):c.1603G>A (p.Val535Ile)	ZNF790, ZNF790-AS1 (V535I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271526	NM_206894.4(ZNF790):c.1552G>C (p.Gly518Arg)	ZNF790, ZNF790-AS1 (G518R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365034	NM_206894.4(ZNF790):c.1529A>G (p.Glu510Gly)	ZNF790, ZNF790-AS1 (E510G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198427	NM_206894.4(ZNF790):c.1523G>A (p.Cys508Tyr)	ZNF790, ZNF790-AS1 (C508Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516592	NM_206894.4(ZNF790):c.1488C>G (p.His496Gln)	ZNF790, ZNF790-AS1 (H496Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555768	NM_206894.4(ZNF790):c.1435G>A (p.Glu479Lys)	ZNF790, ZNF790-AS1 (E479K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612169	NM_206894.4(ZNF790):c.1421G>C (p.Gly474Ala)	ZNF790, ZNF790-AS1 (G474A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378130	NM_206894.4(ZNF790):c.1402C>T (p.His468Tyr)	ZNF790, ZNF790-AS1 (H468Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367764	NM_206894.4(ZNF790):c.1393T>C (p.Phe465Leu)	ZNF790, ZNF790-AS1 (F465L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457818	NM_206894.4(ZNF790):c.1391A>G (p.Glu464Gly)	ZNF790, ZNF790-AS1 (E464G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310916	NM_206894.4(ZNF790):c.1324A>G (p.Lys442Glu)	ZNF790, ZNF790-AS1 (K442E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406629	NM_206894.4(ZNF790):c.1299G>C (p.Trp433Cys)	ZNF790, ZNF790-AS1 (W433C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198425	NM_206894.4(ZNF790):c.1267G>C (p.Glu423Gln)	ZNF790, ZNF790-AS1 (E423Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350619	NM_206894.4(ZNF790):c.1130G>A (p.Arg377His)	ZNF790, ZNF790-AS1 (R377H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613792	NM_206894.4(ZNF790):c.989G>T (p.Arg330Ile)	ZNF790, ZNF790-AS1 (R330I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331817	NM_206894.4(ZNF790):c.971A>T (p.His324Leu)	ZNF790, ZNF790-AS1 (H324L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331815	NM_206894.4(ZNF790):c.970C>A (p.His324Asn)	ZNF790, ZNF790-AS1 (H324N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198436	NM_206894.4(ZNF790):c.952G>A (p.Ala318Thr)	ZNF790, ZNF790-AS1 (A318T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489303	NM_206894.4(ZNF790):c.931G>C (p.Glu311Gln)	ZNF790, ZNF790-AS1 (E311Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546019	NM_206894.4(ZNF790):c.925C>T (p.Pro309Ser)	ZNF790, ZNF790-AS1 (P309S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198435	NM_206894.4(ZNF790):c.920A>G (p.Glu307Gly)	ZNF790, ZNF790-AS1 (E307G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569283	NM_206894.4(ZNF790):c.821G>A (p.Arg274Gln)	ZNF790, ZNF790-AS1 (R274Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245007	NM_206894.4(ZNF790):c.720T>A (p.Ser240Arg)	ZNF790, ZNF790-AS1 (S240R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198433	NM_206894.4(ZNF790):c.466G>A (p.Val156Met)	ZNF790, ZNF790-AS1 (V156M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615416	NM_206894.4(ZNF790):c.401A>C (p.Gln134Pro)	ZNF790, ZNF790-AS1 (Q134P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357682	NM_206894.4(ZNF790):c.373A>G (p.Thr125Ala)	ZNF790, ZNF790-AS1 (T125A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485735	NM_206894.4(ZNF790):c.347G>A (p.Cys116Tyr)	ZNF790, ZNF790-AS1 (C116Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276532	NM_206894.4(ZNF790):c.334C>G (p.Leu112Val)	ZNF790, ZNF790-AS1 (L112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608246	NM_206894.4(ZNF790):c.315A>C (p.Arg105Ser)	ZNF790, ZNF790-AS1 (R105S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198431	NM_206894.4(ZNF790):c.307A>T (p.Ile103Leu)	ZNF790, ZNF790-AS1 (I103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198430	NM_206894.4(ZNF790):c.249G>C (p.Gln83His)	ZNF790, ZNF790-AS1 (Q83H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198434	NM_206894.4(ZNF790):c.55T>G (p.Trp19Gly)	ZNF790, ZNF790-AS1 (W19G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2282151	NM_206894.4(ZNF790):c.35T>A (p.Val12Glu)	ZNF790, ZNF790-AS1 (V12E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3198432	NM_206894.4(ZNF790):c.32C>G (p.Ala11Gly)	ZNF790, ZNF790-AS1 (A11G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 41