ClinVar for Gene (Select 80117) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315008	NM_025047.3(ARL14):c.445C>G (p.Arg149Gly)	ARL14, LOC126806865 (R149G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129533	NM_025047.3(ARL14):c.8C>T (p.Ser3Leu)	ARL14, LOC126806865 (S3L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3129532	NM_025047.3(ARL14):c.53T>G (p.Leu18Arg)	ARL14, LOC126806865 (L18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129531	NM_025047.3(ARL14):c.445C>T (p.Arg149Trp)	ARL14, LOC126806865 (R149W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129530	NM_025047.3(ARL14):c.168G>C (p.Arg56Ser)	ARL14, LOC126806865 (R56S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129529	NM_025047.3(ARL14):c.157G>A (p.Glu53Lys)	ARL14, LOC126806865 (E53K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2654260	NM_025047.3(ARL14):c.531C>T (p.Ser177=)	ARL14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622830	NM_025047.3(ARL14):c.433C>A (p.Leu145Ile)	ARL14, LOC126806865 (L145I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610335	NM_025047.3(ARL14):c.337A>G (p.Ile113Val)	ARL14, LOC126806865 (I113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557781	NM_025047.3(ARL14):c.500G>T (p.Gly167Val)	ARL14, LOC126806865 (G167V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526891	NM_025047.3(ARL14):c.410C>G (p.Thr137Ser)	ARL14, LOC126806865 (T137S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515695	NM_025047.3(ARL14):c.131C>T (p.Thr44Ile)	ARL14, LOC126806865 (T44I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391427	NM_025047.3(ARL14):c.484G>A (p.Glu162Lys)	ARL14, LOC126806865 (E162K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376521	NM_025047.3(ARL14):c.395C>T (p.Thr132Ile)	ARL14, LOC126806865 (T132I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337545	NM_025047.3(ARL14):c.141C>A (p.Phe47Leu)	ARL14, LOC126806865 (F47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293110	NM_025047.3(ARL14):c.482G>A (p.Gly161Glu)	ARL14, LOC126806865 (G161E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267128	NM_025047.3(ARL14):c.125T>A (p.Ile42Asn)	ARL14, LOC126806865 (I42N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220319	NM_025047.3(ARL14):c.382C>T (p.Pro128Ser)	ARL14, LOC126806865 (P128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	PTX3, SCHIP1 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 635957	Single allele	IL12A, IQCJ +10 more	Duplication	Growth abnormality	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +304 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 38