OR10G3[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
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	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
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 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57746	GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1	ANG, ARHGEF40 +108 more	Copy number loss	See cases	GPathogenic
Select item 57747	GRCh38/hg38 14q11.2(chr14:20908863-21576473)x1	ARHGEF40, CHD8 +48 more	Copy number loss	See cases	GPathogenic
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 3302392	NM_001005465.2(OR10G3):c.923G>C (p.Arg308Thr)	OR10G3 (R308T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204511	NM_001005465.2(OR10G3):c.918C>G (p.Ser306Arg)	OR10G3 (S306R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287399	NM_001005465.2(OR10G3):c.909G>A (p.Met303Ile)	OR10G3 (M303I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388831	NM_001005465.2(OR10G3):c.880C>G (p.Gln294Glu)	OR10G3 (Q294E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204510	NM_001005465.2(OR10G3):c.839T>C (p.Ile280Thr)	OR10G3 (I280T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265084	NM_001005465.2(OR10G3):c.833C>A (p.Thr278Lys)	OR10G3 (T278K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480105	NM_001005465.2(OR10G3):c.794C>T (p.Thr265Ile)	OR10G3 (T265I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644069	NM_001005465.2(OR10G3):c.726T>C (p.Cys242=)	OR10G3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2327984	NM_001005465.2(OR10G3):c.722C>T (p.Thr241Ile)	OR10G3 (T241I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644070	NM_001005465.2(OR10G3):c.704G>A (p.Arg235Gln)	OR10G3 (R235Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2512928	NM_001005465.2(OR10G3):c.703C>T (p.Arg235Trp)	OR10G3 (R235W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204509	NM_001005465.2(OR10G3):c.686T>C (p.Ile229Thr)	OR10G3 (I229T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204508	NM_001005465.2(OR10G3):c.611T>C (p.Ile204Thr)	OR10G3 (I204T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462163	NM_001005465.2(OR10G3):c.541G>A (p.Asp181Asn)	OR10G3 (D181N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383501	NM_001005465.2(OR10G3):c.518A>G (p.Asn173Ser)	OR10G3 (N173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601672	NM_001005465.2(OR10G3):c.485T>A (p.Ile162Asn)	OR10G3 (I162N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404277	NM_001005465.2(OR10G3):c.436G>A (p.Val146Met)	OR10G3 (V146M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644071	NM_001005465.2(OR10G3):c.336G>A (p.Gln112=)	OR10G3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2303149	NM_001005465.2(OR10G3):c.310T>C (p.Phe104Leu)	OR10G3 (F104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644072	NM_001005465.2(OR10G3):c.309T>C (p.Tyr103=)	OR10G3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3204507	NM_001005465.2(OR10G3):c.275C>A (p.Pro92His)	OR10G3 (P92H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238226	NM_001005465.2(OR10G3):c.221T>G (p.Ile74Ser)	OR10G3 (I74S)	Single nucleotide variant (missense variant)	not specified	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 2580329	GRCh37/hg19 14q11.2(chr14:21851693-22089506)x1	CHD8, METTL3 +5 more	Copy number loss	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 1808729	GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1	ABHD4, ANG +52 more	Copy number loss	not provided	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 1326312	GRCh37/hg19 14q11.2(chr14:20925965-23649548)x3	PRMT5, PSMB11 +60 more	Copy number gain	14q11.2 microduplication	GLikely pathogenic
Select item 981171	Single allele	ABHD4, DAD1 +5 more	Deletion	not provided	GUncertain significance
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815630	GRCh37/hg19 14q11.2(chr14:21159605-22252320)x4	TOX4, ARHGEF40 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 815629	GRCh37/hg19 14q11.2(chr14:21143933-23297667)x1	OR10G3, OXA1L +33 more	Copy number loss	not provided	GPathogenic
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 689314	GRCh37/hg19 14q11.2(chr14:21678344-22299981)x3	CHD8, HNRNPC +10 more	Copy number gain	not provided	GUncertain significance
Select item 666446	GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3	SLC22A17, SLC7A7 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 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 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic

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Items: 52