17976[HGNC] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
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 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 152822	GRCh38/hg38 14q21.2-21.3(chr14:45994462-47317094)x3	LINC00871, LOC126861932 +8 more	Copy number gain	See cases	GUncertain significance
Select item 3024386	GRCh38/hg38 14q21.2-21.3(chr14:46402812-47162762)	LINC00871, LOC126861932 +5 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 152821	GRCh38/hg38 14q21.2-21.3(chr14:46644863-46788500)x1	LOC130055530, RPL10L	Copy number loss	See cases	GUncertain significance
Select item 2248376	NM_080746.3(RPL10L):c.629G>A (p.Arg210Gln)	RPL10L (R210Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156024	NM_080746.3(RPL10L):c.628C>T (p.Arg210Trp)	RPL10L (R210W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156023	NM_080746.3(RPL10L):c.577G>A (p.Asp193Asn)	RPL10L (D193N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319498	NM_080746.3(RPL10L):c.568C>T (p.Leu190Phe)	RPL10L (L190F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364018	NM_080746.3(RPL10L):c.551T>C (p.Met184Thr)	RPL10L (M184T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215580	NM_080746.3(RPL10L):c.502T>A (p.Ser168Thr)	RPL10L (S168T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1098616	NM_080746.3(RPL10L):c.501C>G (p.Ile167Met)	RPL10L (I167M)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 2239481	NM_080746.3(RPL10L):c.490A>G (p.Lys164Glu)	RPL10L (K164E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533494	NM_080746.3(RPL10L):c.482G>T (p.Gly161Val)	RPL10L (G161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530800	NM_080746.3(RPL10L):c.451G>T (p.Ala151Ser)	RPL10L (A151S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681522	NM_080746.3(RPL10L):c.399A>G (p.Gln133=)	RPL10L	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2256249	NM_080746.3(RPL10L):c.386T>C (p.Val129Ala)	RPL10L (V129A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391713	NM_080746.3(RPL10L):c.383G>A (p.Arg128Gln)	RPL10L (R128Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405160	NM_080746.3(RPL10L):c.314G>T (p.Cys105Phe)	RPL10L (C105F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492089	NM_080746.3(RPL10L):c.302A>G (p.Lys101Arg)	RPL10L (K101R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681523	NM_080746.3(RPL10L):c.293G>A (p.Arg98His)	RPL10L (R98H)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2408696	NM_080746.3(RPL10L):c.292C>T (p.Arg98Cys)	RPL10L (R98C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252427	NM_080746.3(RPL10L):c.268C>T (p.Arg90Trp)	RPL10L (R90W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 870124	NM_080746.3(RPL10L):c.257A>C (p.His86Pro)	RPL10L (H86P)	Single nucleotide variant (missense variant)	Spermatogenesis maturation arrest	GLikely pathogenic
Select item 2479684	NM_080746.3(RPL10L):c.182C>G (p.Ser61Cys)	RPL10L (S61C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377930	NM_080746.3(RPL10L):c.168A>C (p.Glu56Asp)	RPL10L (E56D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156022	NM_080746.3(RPL10L):c.157G>A (p.Val53Met)	RPL10L (V53M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331660	NM_080746.3(RPL10L):c.154A>G (p.Met52Val)	RPL10L (M52V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471931	NM_080746.3(RPL10L):c.102T>G (p.Phe34Leu)	RPL10L (F34L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161797	NM_080746.3(RPL10L):c.94C>T (p.Arg32Cys)	RPL10L (R32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526560	NM_080746.3(RPL10L):c.43A>C (p.Lys15Gln)	RPL10L (K15Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474125	NM_080746.3(RPL10L):c.37A>C (p.Lys13Gln)	RPL10L (K13Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156021	NM_080746.3(RPL10L):c.10C>T (p.Arg4Cys)	RPL10L (R4C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295369	NM_080746.3(RPL10L):c.10C>G (p.Arg4Gly)	RPL10L (R4G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684724	GRCh37/hg19 14q21.2-21.3(chr14:47019704-47575793)x3	MDGA2, RPL10L	Copy number gain	not provided	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
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 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1527812	GRCh37/hg19 14q21.2-21.3(chr14:45827312-50529931)	ARF6, DNAAF2 +14 more	Copy number gain	not specified	GUncertain significance
Select item 815653	GRCh37/hg19 14q21.2-21.3(chr14:46907047-47255343)x3	RPL10L	Copy number gain	not provided	GLikely benign
Select item 564135	GRCh37/hg19 14q13.2-21.2(chr14:35934503-47120961)x1	BRMS1L, C14orf28 +29 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 441988	GRCh37/hg19 14q21.2(chr14:46845461-47128671)x1	RPL10L	Copy number loss	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic

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Items: 47