ClinVar for Gene (Select 51016) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3088561	NM_016049.4(EMC9):c.535C>A (p.Leu179Ile)	EMC9 (L179I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088560	NM_016049.4(EMC9):c.508C>G (p.Gln170Glu)	EMC9 (Q170E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088559	NM_016049.4(EMC9):c.499C>G (p.Arg167Gly)	EMC9 (R93G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088558	NM_016049.4(EMC9):c.118T>G (p.Cys40Gly)	EMC9 (C40G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3063335	GRCh37/hg19 14q11.2-12(chr14:24566156-24631608)x1	DCAF11, EMC9 +6 more	Copy number loss	not specified	GUncertain significance
Select item 2685479	GRCh37/hg19 14q11.2-12(chr14:24445622-28262222)x1	RIPK3, RNF31 +41 more	Copy number loss	not provided	GLikely pathogenic
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 2600242	NM_016049.4(EMC9):c.505C>T (p.His169Tyr)	EMC9 (H95Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533100	NM_016049.4(EMC9):c.152A>C (p.His51Pro)	EMC9 (H51P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2486925	NM_016049.4(EMC9):c.465G>C (p.Glu155Asp)	EMC9 (E155D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459130	NM_016049.4(EMC9):c.208T>C (p.Trp70Arg)	EMC9 (W70R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	MRPL52, MYH6 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 2410257	NM_016049.4(EMC9):c.202G>T (p.Asp68Tyr)	EMC9 (D68Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2338373	NM_016049.4(EMC9):c.209G>C (p.Trp70Ser)	EMC9 (W70S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2302305	NM_016049.4(EMC9):c.112G>C (p.Gly38Arg)	EMC9 (G38R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2271954	NM_016049.4(EMC9):c.115G>A (p.Glu39Lys)	EMC9 (E39K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2243362	NM_016049.4(EMC9):c.515T>G (p.Leu172Arg)	EMC9 (L98R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212259	NM_016049.4(EMC9):c.376C>T (p.Arg126Cys)	EMC9 (R126C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209964	NM_016049.4(EMC9):c.446T>C (p.Met149Thr)	EMC9 (M75T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207045	NM_016049.4(EMC9):c.299T>C (p.Ile100Thr)	EMC9 (I100T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206817	NM_016049.4(EMC9):c.416G>T (p.Arg139Leu)	EMC9 (R139L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 980003	GRCh37/hg19 14q11.2-12(chr14:24163771-24818728)x3	ADCY4, CARMIL3 +31 more	Copy number gain	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 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
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 442398	GRCh37/hg19 14q11.2-12(chr14:24233721-31377083)x1	ADCY4, CARMIL3 +48 more	Copy number loss	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
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 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 154806	GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1	ADCY4, CARMIL3 +122 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 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	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 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	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

ClinVar

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Links from Gene

Items: 41