ClinVar for Gene (Select 442191) - ClinVar

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

Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3204838	NM_030946.2(OR14J1):c.929A>G (p.Gln310Arg)	OR14J1 (Q310R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204837	NM_030946.2(OR14J1):c.812T>G (p.Val271Gly)	OR14J1 (V271G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204836	NM_030946.2(OR14J1):c.736G>A (p.Ala246Thr)	OR14J1 (A246T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204835	NM_030946.2(OR14J1):c.655A>G (p.Ile219Val)	OR14J1 (I219V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204833	NM_030946.2(OR14J1):c.611C>A (p.Ala204Glu)	OR14J1 (A204E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204832	NM_030946.2(OR14J1):c.37A>G (p.Met13Val)	OR14J1 (M13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204831	NM_030946.2(OR14J1):c.356A>G (p.Asp119Gly)	OR14J1 (D119G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685201	GRCh37/hg19 6p22.1(chr6:29080457-29290402)x1	OR14J1, OR2J2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2620720	NM_030946.2(OR14J1):c.629T>A (p.Ile210Asn)	OR14J1 (I210N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615638	NM_030946.2(OR14J1):c.186G>T (p.Lys62Asn)	OR14J1 (K62N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518474	NM_030946.2(OR14J1):c.922C>T (p.Leu308Phe)	OR14J1 (L308F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2481597	NM_030946.2(OR14J1):c.851A>G (p.Asn284Ser)	OR14J1 (N284S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474674	NM_030946.2(OR14J1):c.92T>C (p.Val31Ala)	OR14J1 (V31A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296790	NM_030946.2(OR14J1):c.652C>T (p.Arg218Cys)	OR14J1 (R218C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807671	GRCh37/hg19 6p22.1(chr6:29162783-30236331)x3	GABBR1, HCG17 +23 more	Copy number gain	not provided	GUncertain significance
Select item 1527231	GRCh37/hg19 6p22.1(chr6:28735761-29585573)	GABBR1, MAS1L +16 more	Copy number loss	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 153490	GRCh38/hg38 6p22.1(chr6:28763187-29769828)x3	GABBR1, HCG14 +61 more	Copy number gain	See cases	GUncertain significance
Select item 150190	GRCh38/hg38 6p22.1(chr6:28954920-29358310)x3	HCG15, LINC03003 +17 more	Copy number gain	See cases	GLikely benign
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 149276	GRCh38/hg38 6p22.1(chr6:28954915-29358240)x1	HCG15, LINC03003 +17 more	Copy number loss	See cases	GLikely benign

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: 24