21247[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 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 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	LOC126859858, LOC126859859 +340 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 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	LOC129997629, LOC129997630 +323 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 144539	GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1	AFDN, AFDN-DT +298 more	Copy number loss	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 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 58468	GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1	LOC129997659, LOC129997660 +248 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 58470	GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1	AFDN, AFDN-DT +225 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 58472	GRCh38/hg38 6q27(chr6:166370159-170602152)x1	AFDN, AFDN-DT +169 more	Copy number loss	See cases	GPathogenic
Select item 148449	GRCh38/hg38 6q27(chr6:167145050-170714507)x1	AFDN, AFDN-DT +112 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 152206	GRCh38/hg38 6q27(chr6:167896913-170714507)x1	AFDN, C6orf120 +78 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 150709	GRCh38/hg38 6q27(chr6:167963618-170597678)x1	AFDN, C6orf120 +77 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 57303	GRCh38/hg38 6q27(chr6:168524169-170612001)x1	C6orf120, DLL1 +60 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 148570	GRCh38/hg38 6q27(chr6:168802993-170714507)x1	C6orf120, DLL1 +57 more	Copy number loss	See cases	GLikely pathogenic
Select item 148678	GRCh38/hg38 6q27(chr6:168881467-170602152)x1	C6orf120, DLL1 +56 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 57021	GRCh38/hg38 6q27(chr6:169441378-170612001)x1	C6orf120, DLL1 +40 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 147670	GRCh38/hg38 6q27(chr6:169688809-170583214)x1	C6orf120, DLL1 +34 more	Copy number loss	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 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 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	AFDN, C6orf118 +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 2583044	GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1	AFDN, AGPAT4 +37 more	Copy number loss	not provided	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 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	PDCD2, PDE10A +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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 84