ClinVar for Gene (Select 27153) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259506	NM_015694.3(ZNF777):c.658A>T (p.Ile220Leu)	ZNF777 (I220L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259504	NM_015694.3(ZNF777):c.1374G>C (p.Glu458Asp)	ZNF777 (E458D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259503	NM_015694.3(ZNF777):c.1241A>G (p.Asp414Gly)	ZNF777 (D414G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259502	NM_015694.3(ZNF777):c.1189G>A (p.Gly397Ser)	ZNF777 (G397S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198279	NM_015694.3(ZNF777):c.82C>T (p.Pro28Ser)	ZNF777 (P28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198278	NM_015694.3(ZNF777):c.467A>G (p.Gln156Arg)	ZNF777 (Q156R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198277	NM_015694.3(ZNF777):c.1911G>C (p.Lys637Asn)	ZNF777 (K637N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198275	NM_015694.3(ZNF777):c.1751G>C (p.Arg584Pro)	ZNF777 (R584P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198274	NM_015694.3(ZNF777):c.1594G>A (p.Ala532Thr)	ZNF777 (A532T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198273	NM_015694.3(ZNF777):c.1564G>A (p.Gly522Ser)	ZNF777 (G522S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198272	NM_015694.3(ZNF777):c.1060G>A (p.Gly354Ser)	ZNF777 (G354S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198271	NM_015694.3(ZNF777):c.1018G>A (p.Gly340Arg)	ZNF777 (G340R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062962	GRCh37/hg19 7q36.1(chr7:148896264-150963866)x1	LOC100134040, LRRC61 +40 more	Copy number loss	not specified	GPathogenic
Select item 2685275	GRCh37/hg19 7q36.1(chr7:148538593-150967829)x1	TMEM176B, ZNF425 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685273	GRCh37/hg19 7q35-36.1(chr7:144075624-149323060)x1	C7orf33, CNTNAP2 +18 more	Copy number loss	not provided	GUncertain significance
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2658143	NM_015694.3(ZNF777):c.1887C>T (p.Gly629=)	ZNF777	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613420	NM_015694.3(ZNF777):c.434C>T (p.Thr145Ile)	ZNF777 (T145I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611044	NM_015694.3(ZNF777):c.1078C>T (p.Pro360Ser)	ZNF777 (P360S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604095	NM_015694.3(ZNF777):c.439C>A (p.Pro147Thr)	ZNF777 (P147T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591258	NM_015694.3(ZNF777):c.1888G>A (p.Gly630Ser)	ZNF777 (G630S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590653	NM_015694.3(ZNF777):c.458C>T (p.Pro153Leu)	ZNF777 (P153L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	NDUFB2, NOBOX +125 more	Copy number loss	not provided	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2572222	NM_015694.3(ZNF777):c.2168A>C (p.Lys723Thr)	ZNF777 (K723T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2554787	NM_015694.3(ZNF777):c.1598C>T (p.Ser533Leu)	ZNF777 (S533L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528987	NM_015694.3(ZNF777):c.1574A>C (p.His525Pro)	ZNF777 (H525P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524079	NM_015694.3(ZNF777):c.1291G>A (p.Glu431Lys)	ZNF777 (E431K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522817	NM_015694.3(ZNF777):c.664G>A (p.Asp222Asn)	ZNF777 (D222N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520619	NM_015694.3(ZNF777):c.1502A>G (p.Glu501Gly)	ZNF777 (E501G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479451	NM_015694.3(ZNF777):c.308C>A (p.Thr103Asn)	ZNF777 (T103N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475841	NM_015694.3(ZNF777):c.1738G>A (p.Glu580Lys)	ZNF777 (E580K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471787	NM_015694.3(ZNF777):c.1015C>T (p.Arg339Cys)	ZNF777 (R339C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 2406920	NM_015694.3(ZNF777):c.13C>T (p.Arg5Cys)	ZNF777 (R5C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399072	NM_015694.3(ZNF777):c.638C>T (p.Thr213Met)	ZNF777 (T213M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383479	NM_015694.3(ZNF777):c.1730C>T (p.Ala577Val)	ZNF777 (A577V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381581	NM_015694.3(ZNF777):c.1447G>A (p.Glu483Lys)	ZNF777 (E483K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381086	NM_015694.3(ZNF777):c.154C>T (p.Arg52Cys)	ZNF777 (R52C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373267	NM_015694.3(ZNF777):c.1299C>A (p.Ser433Arg)	ZNF777 (S433R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367363	NM_015694.3(ZNF777):c.44C>T (p.Pro15Leu)	ZNF777 (P15L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2357073	NM_015694.3(ZNF777):c.1081A>G (p.Ser361Gly)	ZNF777 (S361G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343840	NM_015694.3(ZNF777):c.491C>A (p.Thr164Asn)	ZNF777 (T164N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331430	NM_015694.3(ZNF777):c.109G>A (p.Val37Ile)	ZNF777 (V37I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2327405	NM_015694.3(ZNF777):c.1000A>G (p.Met334Val)	ZNF777 (M334V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317658	NM_015694.3(ZNF777):c.31T>C (p.Phe11Leu)	ZNF777 (F11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281364	NM_015694.3(ZNF777):c.1607A>C (p.Gln536Pro)	ZNF777 (Q536P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276409	NM_015694.3(ZNF777):c.518A>G (p.Gln173Arg)	ZNF777 (Q173R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272457	NM_015694.3(ZNF777):c.1383A>C (p.Glu461Asp)	ZNF777 (E461D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260278	NM_015694.3(ZNF777):c.228G>T (p.Gln76His)	ZNF777 (Q76H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250669	NM_015694.3(ZNF777):c.550A>G (p.Thr184Ala)	ZNF777 (T184A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244837	NM_015694.3(ZNF777):c.2004G>C (p.Glu668Asp)	ZNF777 (E668D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243918	NM_015694.3(ZNF777):c.494C>G (p.Pro165Arg)	ZNF777 (P165R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1341986	GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1	ACTR3C, AGAP3 +65 more	Copy number loss	not provided	GPathogenic
Select item 1341970	GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3	CUL1, DNAJB6 +80 more	Copy number gain	not provided	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1340734	GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3	ACTR3C, ABCB8 +75 more	Copy number gain	not provided	GPathogenic
Select item 1340055	GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1	ABCB8, ABCF2 +72 more	Copy number loss	not provided	GPathogenic
Select item 973042	GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3	ABCB8, ABCF2 +96 more	Copy number gain	not provided	Gnot provided
Select item 972930	GRCh37/hg19 7q35-36.1(chr7:147897705-149874566)x3	ATP6V0E2, C7orf33 +20 more	Copy number loss	not provided	Gnot provided
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815045	GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1	NOM1, NOS3 +80 more	Copy number loss	not provided	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 684492	Single allele	ATP6V0E2, C7orf33 +20 more	Duplication	not provided	Gnot provided
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442595	GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1	ABCB8, ABCF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 442236	GRCh37/hg19 7q36.1(chr7:148189771-150867270)x4	ABCB8, ACTR3C +46 more	Copy number gain	See cases	GUncertain significance
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	DGKI, DNAJB6 +166 more	Copy number gain	See cases	GPathogenic
Select item 226277	GRCh37/hg19 7q35-36.3(chr7:143839360-159138663)	CRYGN, CTAGE4 +89 more	Copy number loss	Abnormal esophagus morphology	GPathogenic
Select item 221341	Single allele	KRBA1, ZNF467 +2 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149558	GRCh38/hg38 7q35-36.1(chr7:143596735-150089125)x4	ACTR3C, ARHGEF35 +172 more	Copy number gain	See cases	GLikely pathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	ABCB8, ABCF2 +329 more	Copy number gain	See cases	GPathogenic

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