30700[HGNC] - ClinVar - NCBI

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	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 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 153639	GRCh38/hg38 19q12-13.11(chr19:29051888-31967596)x1	C19orf12, CCNE1 +71 more	Copy number loss	See cases	GLikely pathogenic
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 145087	GRCh38/hg38 19q12(chr19:30596523-31293682)x3	LINC01791, LINC01834 +6 more	Copy number gain	See cases	GBenign
Select item 3183724	NM_020856.4(TSHZ3):c.3234A>T (p.Leu1078Phe)	TSHZ3 (L1078F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183723	NM_020856.4(TSHZ3):c.3203C>T (p.Pro1068Leu)	TSHZ3 (P1068L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045626	NM_020856.4(TSHZ3):c.3192C>T (p.His1064=)	TSHZ3	Single nucleotide variant (synonymous variant)	TSHZ3-related disorder	GLikely benign
Select item 3183722	NM_020856.4(TSHZ3):c.3145A>T (p.Thr1049Ser)	TSHZ3 (T1049S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042811	NM_020856.4(TSHZ3):c.3144G>A (p.Arg1048=)	TSHZ3	Single nucleotide variant (synonymous variant)	TSHZ3-related disorder	GLikely benign
Select item 2390760	NM_020856.4(TSHZ3):c.3034G>A (p.Glu1012Lys)	TSHZ3 (E1012K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205470	NM_020856.4(TSHZ3):c.3020C>G (p.Ser1007Cys)	TSHZ3 (S1007C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221785	NM_020856.4(TSHZ3):c.3011G>A (p.Arg1004Gln)	TSHZ3 (R1004Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545761	NM_020856.4(TSHZ3):c.2941T>G (p.Cys981Gly)	TSHZ3 (C981G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243681	NM_020856.4(TSHZ3):c.2923G>A (p.Val975Ile)	TSHZ3 (V975I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649676	NM_020856.4(TSHZ3):c.2835C>T (p.Thr945=)	TSHZ3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2218119	NM_020856.4(TSHZ3):c.2827A>C (p.Met943Leu)	TSHZ3 (M943L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470190	NM_020856.4(TSHZ3):c.2818G>A (p.Gly940Arg)	TSHZ3 (G940R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183721	NM_020856.4(TSHZ3):c.2654C>T (p.Ser885Leu)	TSHZ3 (S885L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329606	NM_020856.4(TSHZ3):c.2645C>T (p.Ala882Val)	TSHZ3 (A882V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3348080	NM_020856.4(TSHZ3):c.2641G>A (p.Glu881Lys)	TSHZ3 (E881K)	Single nucleotide variant (missense variant)	TSHZ3-related disorder	GUncertain significance
Select item 2223406	NM_020856.4(TSHZ3):c.2626G>A (p.Gly876Arg)	TSHZ3 (G876R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216408	NM_020856.4(TSHZ3):c.2602A>G (p.Ile868Val)	TSHZ3 (I868V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649677	NM_020856.4(TSHZ3):c.2577G>A (p.Thr859=)	TSHZ3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2295338	NM_020856.4(TSHZ3):c.2513C>T (p.Pro838Leu)	TSHZ3 (P838L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183720	NM_020856.4(TSHZ3):c.2502G>A (p.Met834Ile)	TSHZ3 (M834I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234086	NM_020856.4(TSHZ3):c.2491G>T (p.Val831Leu)	TSHZ3 (V831L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363321	NM_020856.4(TSHZ3):c.2488G>A (p.Val830Ile)	TSHZ3 (V830I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369749	NM_020856.4(TSHZ3):c.2462C>T (p.Thr821Met)	TSHZ3 (T821M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183719	NM_020856.4(TSHZ3):c.2461A>G (p.Thr821Ala)	TSHZ3 (T821A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343099	NM_020856.4(TSHZ3):c.2456C>T (p.Ser819Leu)	TSHZ3 (S819L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034450	NM_020856.4(TSHZ3):c.2454C>T (p.Ser818=)	TSHZ3	Single nucleotide variant (synonymous variant)	TSHZ3-related disorder	GLikely benign
Select item 3046797	NM_020856.4(TSHZ3):c.2433G>A (p.Thr811=)	TSHZ3	Single nucleotide variant (synonymous variant)	TSHZ3-related disorder	GLikely benign
Select item 2474844	NM_020856.4(TSHZ3):c.2420T>G (p.Leu807Arg)	TSHZ3 (L807R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383826	NM_020856.4(TSHZ3):c.2399G>C (p.Gly800Ala)	TSHZ3 (G800A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223485	NM_020856.4(TSHZ3):c.2358C>G (p.Asn786Lys)	TSHZ3 (N786K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2631866	NM_020856.4(TSHZ3):c.2327A>G (p.His776Arg)	TSHZ3 (H776R)	Single nucleotide variant (missense variant)	TSHZ3-related disorder	GUncertain significance
Select item 2392160	NM_020856.4(TSHZ3):c.2309A>G (p.Gln770Arg)	TSHZ3 (Q770R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183718	NM_020856.4(TSHZ3):c.2305C>G (p.Leu769Val)	TSHZ3 (L769V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183717	NM_020856.4(TSHZ3):c.2297C>T (p.Pro766Leu)	TSHZ3 (P766L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063592	NM_020856.4(TSHZ3):c.2294C>T (p.Thr765Ile)	TSHZ3 (T765I)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GUncertain significance
Select item 3053302	NM_020856.4(TSHZ3):c.2286T>C (p.Ala762=)	TSHZ3	Single nucleotide variant (synonymous variant)	TSHZ3-related disorder	GLikely benign
Select item 1248896	NM_020856.4(TSHZ3):c.2283T>C (p.Ala761=)	TSHZ3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3044988	NM_020856.4(TSHZ3):c.2274G>A (p.Ala758=)	TSHZ3	Single nucleotide variant (synonymous variant)	TSHZ3-related disorder	GLikely benign
Select item 2480938	NM_020856.4(TSHZ3):c.2268C>A (p.Ser756Arg)	TSHZ3 (S756R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624100	NM_020856.4(TSHZ3):c.2261G>C (p.Ser754Thr)	TSHZ3 (S754T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037864	NM_020856.4(TSHZ3):c.2208C>T (p.Ala736=)	TSHZ3	Single nucleotide variant (synonymous variant)	TSHZ3-related disorder	GLikely benign
Select item 3034901	NM_020856.4(TSHZ3):c.2139G>A (p.Pro713=)	TSHZ3	Single nucleotide variant (synonymous variant)	TSHZ3-related disorder	GLikely benign
Select item 2338879	NM_020856.4(TSHZ3):c.2117C>T (p.Thr706Met)	TSHZ3 (T706M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313877	NM_020856.4(TSHZ3):c.2075A>G (p.Lys692Arg)	TSHZ3 (K692R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672752	NM_020856.4(TSHZ3):c.2067G>A (p.Glu689=)	TSHZ3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789117	NM_020856.4(TSHZ3):c.2060C>T (p.Pro687Leu)	TSHZ3 (P687L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 760752	NM_020856.4(TSHZ3):c.2016C>T (p.Ser672=)	TSHZ3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3045635	NM_020856.4(TSHZ3):c.2007C>T (p.Asn669=)	TSHZ3	Single nucleotide variant (synonymous variant)	TSHZ3-related disorder	GLikely benign
Select item 2366230	NM_020856.4(TSHZ3):c.1919G>A (p.Arg640Gln)	TSHZ3 (R640Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183715	NM_020856.4(TSHZ3):c.1918C>T (p.Arg640Trp)	TSHZ3 (R640W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063591	NM_020856.4(TSHZ3):c.1879A>G (p.Lys627Glu)	TSHZ3 (K627E)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GUncertain significance
Select item 3329601	NM_020856.4(TSHZ3):c.1871T>C (p.Val624Ala)	TSHZ3 (V624A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488168	NM_020856.4(TSHZ3):c.1802C>G (p.Pro601Arg)	TSHZ3 (P601R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051527	NM_020856.4(TSHZ3):c.1758G>A (p.Thr586=)	TSHZ3	Single nucleotide variant (synonymous variant)	TSHZ3-related disorder	GLikely benign
Select item 2260384	NM_020856.4(TSHZ3):c.1726A>G (p.Met576Val)	TSHZ3 (M576V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714632	NM_020856.4(TSHZ3):c.1698G>A (p.Ser566=)	TSHZ3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3049213	NM_020856.4(TSHZ3):c.1692G>A (p.Leu564=)	TSHZ3	Single nucleotide variant (synonymous variant)	TSHZ3-related disorder	GLikely benign
Select item 2373370	NM_020856.4(TSHZ3):c.1678A>G (p.Met560Val)	TSHZ3 (M560V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183714	NM_020856.4(TSHZ3):c.1666C>A (p.Leu556Ile)	TSHZ3 (L556I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298091	NM_020856.4(TSHZ3):c.1513C>G (p.His505Asp)	TSHZ3 (H505D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397421	NM_020856.4(TSHZ3):c.1477G>A (p.Glu493Lys)	TSHZ3 (E493K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649678	NM_020856.4(TSHZ3):c.1406A>G (p.Glu469Gly)	TSHZ3 (E469G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2325191	NM_020856.4(TSHZ3):c.1375C>A (p.Pro459Thr)	TSHZ3 (P459T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462441	NM_020856.4(TSHZ3):c.1363C>G (p.Pro455Ala)	TSHZ3 (P455A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329603	NM_020856.4(TSHZ3):c.1354T>C (p.Phe452Leu)	TSHZ3 (F452L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329607	NM_020856.4(TSHZ3):c.1346C>T (p.Ala449Val)	TSHZ3 (A449V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183711	NM_020856.4(TSHZ3):c.1343C>T (p.Ala448Val)	TSHZ3 (A448V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034553	NM_020856.4(TSHZ3):c.1333G>A (p.Val445Met)	TSHZ3 (V445M)	Single nucleotide variant (missense variant)	TSHZ3-related disorder	GLikely benign
Select item 2600298	NM_020856.4(TSHZ3):c.1324G>A (p.Val442Ile)	TSHZ3 (V442I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510594	NM_020856.4(TSHZ3):c.1306A>T (p.Thr436Ser)	TSHZ3 (T436S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161739	NM_020856.4(TSHZ3):c.1181C>T (p.Ser394Leu)	TSHZ3 (S394L)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2364132	NM_020856.4(TSHZ3):c.1142G>A (p.Arg381Gln)	TSHZ3 (R381Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3354549	NM_020856.4(TSHZ3):c.1127G>A (p.Trp376Ter)	TSHZ3 (W376*)	Single nucleotide variant (nonsense)	TSHZ3-related disorder	GUncertain significance
Select item 2316317	NM_020856.4(TSHZ3):c.1088A>G (p.Asn363Ser)	TSHZ3 (N363S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052122	NM_020856.4(TSHZ3):c.1083G>A (p.Thr361=)	TSHZ3	Single nucleotide variant (synonymous variant)	TSHZ3-related disorder	GLikely benign
Select item 3329602	NM_020856.4(TSHZ3):c.1082C>T (p.Thr361Met)	TSHZ3 (T361M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516798	NM_020856.4(TSHZ3):c.1046A>G (p.Asn349Ser)	TSHZ3 (N349S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329604	NM_020856.4(TSHZ3):c.1033A>G (p.Ile345Val)	TSHZ3 (I345V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269145	NM_020856.4(TSHZ3):c.1033A>C (p.Ile345Leu)	TSHZ3 (I345L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3352902	NM_020856.4(TSHZ3):c.941C>G (p.Ala314Gly)	TSHZ3 (A314G)	Single nucleotide variant (missense variant)	TSHZ3-related disorder	GLikely benign
Select item 3358577	NM_020856.4(TSHZ3):c.929C>G (p.Thr310Ser)	TSHZ3 (T310S)	Single nucleotide variant (missense variant)	TSHZ3-related disorder	GUncertain significance
Select item 721887	NM_020856.4(TSHZ3):c.903A>G (p.Gln301=)	TSHZ3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2405029	NM_020856.4(TSHZ3):c.755A>G (p.Lys252Arg)	TSHZ3 (K252R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1241314	NM_020856.4(TSHZ3):c.690G>A (p.Thr230=)	TSHZ3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3183726	NM_020856.4(TSHZ3):c.643C>T (p.Arg215Cys)	TSHZ3 (R215C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329605	NM_020856.4(TSHZ3):c.626C>T (p.Thr209Met)	TSHZ3 (T209M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183725	NM_020856.4(TSHZ3):c.548G>A (p.Arg183His)	TSHZ3 (R183H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248386	NM_020856.4(TSHZ3):c.495C>A (p.Phe165Leu)	TSHZ3 (F165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038905	NM_020856.4(TSHZ3):c.486C>T (p.Ser162=)	TSHZ3	Single nucleotide variant (synonymous variant)	TSHZ3-related disorder	GBenign
Select item 2471439	NM_020856.4(TSHZ3):c.361G>A (p.Val121Met)	TSHZ3 (V121M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047817	NM_020856.4(TSHZ3):c.285C>T (p.Asn95=)	TSHZ3	Single nucleotide variant (synonymous variant)	TSHZ3-related disorder	GLikely benign
Select item 2607490	NM_020856.4(TSHZ3):c.260A>C (p.Asp87Ala)	TSHZ3 (D87A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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