ClinVar for Gene (Select 55274) - ClinVar

Links from Gene

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306112	NM_018288.4(PHF10):c.288A>C (p.Glu96Asp)	PHF10 (E96D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306111	NM_018288.4(PHF10):c.38C>T (p.Pro13Leu)	LOC129997711, PHF10 (P13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306110	NM_018288.4(PHF10):c.1385G>A (p.Cys462Tyr)	C6orf120, PHF10 (C460Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3306109	NM_018288.4(PHF10):c.923G>A (p.Arg308Gln)	PHF10 (R306Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212064	NM_018288.4(PHF10):c.43C>G (p.Pro15Ala)	LOC129997711, PHF10 (P15A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212063	NM_018288.4(PHF10):c.37C>T (p.Pro13Ser)	LOC129997711, PHF10 (P13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212062	NM_018288.4(PHF10):c.26C>T (p.Ala9Val)	LOC129997711, PHF10 (A9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212061	NM_018288.4(PHF10):c.1483A>C (p.Ser495Arg)	C6orf120, PHF10 (S495R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3212060	NM_018288.4(PHF10):c.1441G>C (p.Ala481Pro)	C6orf120, PHF10 (A479P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3212059	NM_018288.4(PHF10):c.1327C>T (p.His443Tyr)	C6orf120, PHF10 (H441Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3212058	NM_018288.4(PHF10):c.1084G>A (p.Val362Ile)	PHF10 (V360I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212057	NM_018288.4(PHF10):c.1060A>G (p.Arg354Gly)	PHF10 (R354G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3062910	GRCh37/hg19 6q26-27(chr6:162079329-170919482)x1	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 3024639	GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1	CCR6, CEP43 +33 more	Copy number loss	not provided	GPathogenic
Select item 2685219	GRCh37/hg19 6q27(chr6:167091844-170919482)x1	AFDN, C6orf120 +22 more	Copy number loss	not provided	GPathogenic
Select item 2657145	NM_018288.4(PHF10):c.1218T>C (p.Asn406=)	C6orf120, PHF10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2583044	GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1	AFDN, AGPAT4 +37 more	Copy number loss	not provided	GPathogenic
Select item 2579276	GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1	AFDN, AFDN-DT +255 more	Copy number loss	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	ACAT2, AFDN +54 more	Copy number gain	not provided	GUncertain significance
Select item 2557284	NM_018288.4(PHF10):c.1196T>C (p.Ile399Thr)	C6orf120, PHF10 (I397T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2545143	NM_018288.4(PHF10):c.22G>A (p.Gly8Arg)	LOC129997711, PHF10 (G8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521654	NM_018288.4(PHF10):c.90T>G (p.Asp30Glu)	PHF10 (D30E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490706	NM_018288.4(PHF10):c.142A>G (p.Met48Val)	PHF10 (M48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480593	NM_018288.4(PHF10):c.1415G>T (p.Arg472Leu)	C6orf120, PHF10 (R472L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2471285	NM_018288.4(PHF10):c.738G>T (p.Glu246Asp)	PHF10 (E246D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461492	NM_018288.4(PHF10):c.128C>T (p.Ser43Phe)	PHF10 (S43F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458837	NM_018288.4(PHF10):c.1415G>A (p.Arg472His)	C6orf120, PHF10 (R472H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2394780	NM_018288.4(PHF10):c.1262C>T (p.Ser421Phe)	C6orf120, PHF10 (S421F +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2383864	NM_018288.4(PHF10):c.1135A>C (p.Ile379Leu)	C6orf120, PHF10 (I377L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2382443	NM_018288.4(PHF10):c.44C>T (p.Pro15Leu)	LOC129997711, PHF10 (P15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379003	NM_018288.4(PHF10):c.71G>A (p.Gly24Glu)	LOC129997711, PHF10 (G24E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807798	GRCh37/hg19 6q26-27(chr6:163181847-170919482)x1	AFDN, C6orf118 +32 more	Copy number loss	not provided	GPathogenic
Select item 1711652	GRCh37/hg19 6q26-27(chr6:163836226-170893669)x1	AFDN, C6orf118 +31 more	Copy number loss	not provided	GPathogenic
Select item 1711095	GRCh37/hg19 6q27(chr6:168552894-170919482)x1	C6orf120, DACT2 +11 more	Copy number loss	See cases	GPathogenic
Select item 1706509	GRCh37/hg19 6q27(chr6:167770398-170919482)x1	AFDN, C6orf120 +15 more	Copy number loss	See cases	GPathogenic
Select item 1703663	GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	ACAT2, AFDN +55 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1703662	GRCh37/hg19 6q27(chr6:168643852-170919482)	C6orf120, DACT2 +11 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 1527327	GRCh37/hg19 6q27(chr6:167317903-170919482)	AFDN, C6orf120 +21 more	Copy number loss	not specified	GPathogenic
Select item 1527323	GRCh37/hg19 6q26-27(chr6:163290087-170919482)	AFDN, C6orf118 +32 more	Copy number loss	not specified	GPathogenic
Select item 1527321	GRCh37/hg19 6q26-27(chr6:162381975-170919482)	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 1527320	GRCh37/hg19 6q26-27(chr6:162212864-170919482)	AFDN, C6orf118 +33 more	Copy number gain	not specified	GPathogenic
Select item 1527319	GRCh37/hg19 6q26-27(chr6:161047873-170919482)	AFDN, AGPAT4 +37 more	Copy number loss	not specified	GPathogenic
Select item 1340986	GRCh37/hg19 6q27(chr6:168939661-170919482)x1	C6orf120, DLL1 +10 more	Copy number loss	not provided	GPathogenic
Select item 1340090	GRCh37/hg19 6q27(chr6:168051206-170919482)x1	AFDN, C6orf120 +15 more	Copy number loss	not provided	GPathogenic
Select item 1330195	GRCh37/hg19 6q27(chr6:169830713-171022896)x1	C6orf120, DLL1 +8 more	Copy number loss	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 979749	GRCh37/hg19 6q27(chr6:167580012-170919482)x1	AFDN, C6orf120 +17 more	Copy number loss	not provided	GPathogenic
Select item 979597	GRCh37/hg19 6q27(chr6:166083476-170919482)x3	AFDN, C6orf120 +28 more	Copy number gain	not provided	GLikely pathogenic
Select item 814905	GRCh37/hg19 6q27(chr6:167440417-170919482)x1	AFDN, C6orf120 +20 more	Copy number loss	not provided	GPathogenic
Select item 814901	GRCh37/hg19 6q26-27(chr6:162661108-170919482)x1	CEP43, DACT2 +33 more	Copy number loss	not provided	GPathogenic
Select item 814897	GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1	GPR31, KIF25 +33 more	Copy number loss	not provided	GPathogenic
Select item 712642	NM_018288.4(PHF10):c.1209A>G (p.Gln403=)	C6orf120, PHF10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 685707	GRCh37/hg19 6q27(chr6:166607593-170919482)x1	AFDN, C6orf120 +25 more	Copy number loss	not provided	GPathogenic
Select item 626287	Single allele	AFDN, C6orf118 +33 more	Deletion	not provided	GLikely pathogenic
Select item 625666	GRCh37/hg19 6q27(chr6:168311806-170881789)	AFDN, C6orf120 +13 more	Copy number loss	not provided	GPathogenic
Select item 625656	GRCh37/hg19 6q27(chr6:166517762-170919470)	AFDN, C6orf120 +26 more	Copy number loss	not provided	GPathogenic
Select item 563262	GRCh37/hg19 6q27(chr6:170077456-170331725)x3	C6orf120, DYNLT2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563261	GRCh37/hg19 6q27(chr6:169811293-170384298)x3	C6orf120, DYNLT2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563258	GRCh37/hg19 6q27(chr6:167388817-170919482)x1	AFDN, C6orf120 +20 more	Copy number loss	not provided	GPathogenic
Select item 563255	GRCh37/hg19 6q27(chr6:165190527-170919482)x1	AFDN, C6orf118 +30 more	Copy number loss	not provided	GPathogenic
Select item 563245	GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3	ACAT2, AFDN +49 more	Copy number gain	not provided	GPathogenic
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442494	GRCh37/hg19 6q26-27(chr6:164276935-170919482)x1	AFDN, C6orf118 +30 more	Copy number loss	See cases	GPathogenic
Select item 442252	GRCh37/hg19 6q27(chr6:166110423-170919482)x1	AFDN, C6orf120 +28 more	Copy number loss	See cases	GPathogenic
Select item 395060	GRCh37/hg19 6q27(chr6:170103349-170201866)x1	C6orf120, DYNLT2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic
Select item 253576	GRCh37/hg19 6q27(chr6:165443824-170892302)x1	AFDN, C6orf118 +30 more	Copy number loss	See cases	GPathogenic
Select item 202226	GRCh37/hg19 6q26-27(chr6:162865436-170901287)x3	DACT2, QKI +33 more	Copy number gain	See cases	GPathogenic
Select item 155552	GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1	AFDN, AFDN-DT +278 more	Copy number loss	See cases	GPathogenic
Select item 155515	GRCh38/hg38 6q27(chr6:167760366-170610394)x1	AFDN, AFDN-DT +87 more	Copy number loss	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 152206	GRCh38/hg38 6q27(chr6:167896913-170714507)x1	AFDN, C6orf120 +78 more	Copy number loss	See cases	GPathogenic
Select item 151758	GRCh38/hg38 6q27(chr6:168581259-170610394)x1	C6orf120, DLL1 +60 more	Copy number loss	See cases	GPathogenic
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	LOC129997629, LOC129997630 +323 more	Copy number loss	See cases	GPathogenic
Select item 150709	GRCh38/hg38 6q27(chr6:167963618-170597678)x1	AFDN, C6orf120 +77 more	Copy number loss	See cases	GPathogenic
Select item 148678	GRCh38/hg38 6q27(chr6:168881467-170602152)x1	C6orf120, DLL1 +56 more	Copy number loss	See cases	GPathogenic
Select item 148570	GRCh38/hg38 6q27(chr6:168802993-170714507)x1	C6orf120, DLL1 +57 more	Copy number loss	See cases	GLikely pathogenic
Select item 148449	GRCh38/hg38 6q27(chr6:167145050-170714507)x1	AFDN, AFDN-DT +112 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 147670	GRCh38/hg38 6q27(chr6:169688809-170583214)x1	C6orf120, DLL1 +34 more	Copy number loss	See cases	GPathogenic
Select item 146089	GRCh38/hg38 6q27(chr6:164790270-170612001)x1	AFDN, AFDN-DT +204 more	Copy number loss	See cases	GPathogenic
Select item 144539	GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1	AFDN, AFDN-DT +298 more	Copy number loss	See cases	GPathogenic
Select item 58487	GRCh38/hg38 6q27(chr6:169021176-170602152)x1	C6orf120, DLL1 +54 more	Copy number loss	See cases	GPathogenic
Select item 58475	GRCh38/hg38 6q27(chr6:168180473-170583214)x1	C6orf120, DACT2 +68 more	Copy number loss	See cases	GPathogenic
Select item 58474	GRCh38/hg38 6q27(chr6:167924952-170602152)x1	PHF10, PSMB1 +77 more	Copy number loss	See cases	GPathogenic
Select item 58472	GRCh38/hg38 6q27(chr6:166370159-170602152)x1	AFDN, AFDN-DT +169 more	Copy number loss	See cases	GPathogenic
Select item 58470	GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1	AFDN, AFDN-DT +225 more	Copy number loss	See cases	GPathogenic
Select item 58469	GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1	AFDN, AFDN-DT +244 more	Copy number loss	See cases	GPathogenic
Select item 58468	GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1	LOC129997659, LOC129997660 +248 more	Copy number loss	See cases	GPathogenic
Select item 58458	GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1	AFDN, AFDN-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	LOC126859858, LOC126859859 +340 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 57508	GRCh38/hg38 6q27(chr6:169641704-170612001)x1	C6orf120, DLL1 +37 more	Copy number loss	See cases	GPathogenic
Select item 57303	GRCh38/hg38 6q27(chr6:168524169-170612001)x1	C6orf120, DLL1 +60 more	Copy number loss	See cases	GPathogenic
Select item 57021	GRCh38/hg38 6q27(chr6:169441378-170612001)x1	C6orf120, DLL1 +40 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 99