ClinVar for Gene (Select 57862) - ClinVar

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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	CCNK, MIR376A1 +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	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 656294	NC_000014.8:g.(?_74111723)_(74727642_?)dup	COQ6, DNAL1 +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	ABCD4, ALDH6A1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	ACOT6, ACYP1 +59 more	Deletion	Multiple skeletal anomalies +3 more	GLikely pathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 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	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 146052	GRCh38/hg38 14q24.3(chr14:73758142-73986307)x3	COQ6, ENTPD5 +23 more	Copy number gain	See cases	GUncertain significance
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 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

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Links from Gene

Items: 42