ClinVar for Gene (Select 57862) - ClinVar

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

Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335675	NM_021188.3(ZNF410):c.127C>G (p.Pro43Ala)	ZNF410 (P43A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3244015	NC_000014.8:g.(?_74111743)_(74551097_?)del	ALDH6A1, BBOF1 +8 more	Deletion	Primary ciliary dyskinesia 16	GPathogenic
Select item 3195589	NM_021188.3(ZNF410):c.668T>C (p.Val223Ala)	ZNF410 (V150A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195588	NM_021188.3(ZNF410):c.627T>C (p.Ser209=)	ZNF410 (L23P)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3195587	NM_021188.3(ZNF410):c.322A>G (p.Ser108Gly)	ZNF410 (S108G +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3195586	NM_021188.3(ZNF410):c.293C>T (p.Pro98Leu)	ZNF410 (P98L +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3195584	NM_021188.3(ZNF410):c.1116G>T (p.Glu372Asp)	ZNF410 (E299D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684735	GRCh37/hg19 14q24.3(chr14:74386185-74726710)x3	ALDH6A1, BBOF1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2617803	NM_021188.3(ZNF410):c.593A>C (p.His198Pro)	ZNF410 (H125P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615219	NM_021188.3(ZNF410):c.82C>T (p.Leu28Phe)	ZNF410 (L28F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2568626	NM_021188.3(ZNF410):c.631C>T (p.Pro211Ser)	ZNF410 (P228S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2535310	NM_021188.3(ZNF410):c.632C>T (p.Pro211Leu)	ZNF410 (P228L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525536	NM_021188.3(ZNF410):c.77A>C (p.Gln26Pro)	ZNF410 (Q26P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2517690	NM_021188.3(ZNF410):c.991G>T (p.Val331Leu)	ZNF410 (V135L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516858	NM_021188.3(ZNF410):c.541C>T (p.Arg181Cys)	ZNF410 (R198C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2488249	NM_021188.3(ZNF410):c.140C>T (p.Ala47Val)	ZNF410 (A47V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2382605	NM_021188.3(ZNF410):c.1171G>A (p.Val391Ile)	ZNF410 (V408I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2354350	NM_021188.3(ZNF410):c.235C>T (p.Arg79Trp)	ZNF410 (R79W +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2342483	NM_021188.3(ZNF410):c.760G>A (p.Glu254Lys)	ZNF410 (E181K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2325774	NM_021188.3(ZNF410):c.762A>T (p.Glu254Asp)	ZNF410 (E181D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244563	NM_021188.3(ZNF410):c.1295G>T (p.Arg432Leu)	FAM161B, ZNF410 (R359L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230744	NM_021188.3(ZNF410):c.182A>G (p.Asn61Ser)	ZNF410 (N61S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2221396	NM_021188.3(ZNF410):c.434C>G (p.Ala145Gly)	ZNF410 (A145G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2213531	NM_021188.3(ZNF410):c.1295G>A (p.Arg432His)	FAM161B, ZNF410 (R236H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211781	NM_021188.3(ZNF410):c.242A>G (p.Asn81Ser)	ZNF410 (N81S +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 656294	NC_000014.8:g.(?_74111723)_(74727642_?)dup	ZNF410, ENTPD5 +58 more	Duplication	Primary ciliary dyskinesia 16	GUncertain significance
Select item 625564	GRCh37/hg19 14q24.3(chr14:74040231-76368547)	ABCD4, ACOT2 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 564126	GRCh37/hg19 14q24.3(chr14:74219440-74883692)x3	LIN52, ENTPD5 +11 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	NUMB, OTUB2 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic
Select item 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	RBM25, LIN52 +59 more	Deletion	Intellectual disability, mild +3 more	GLikely pathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 146052	GRCh38/hg38 14q24.3(chr14:73758142-73986307)x3	LOC130056081, LOC130056082 +23 more	Copy number gain	See cases	GUncertain significance
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	LOC130056152, LOC130056153 +503 more	Copy number loss	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	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

Links from Gene

Items: 42