ClinVar for Gene (Select 145553) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293898	NM_138476.4(MDP1):c.450A>C (p.Leu150=)	MDP1, NEDD8-MDP1 (K104Q)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3293897	NM_138476.4(MDP1):c.5C>G (p.Ala2Gly)	LOC130055402, MDP1 +1 more (A2G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293896	NM_138476.4(MDP1):c.485C>G (p.Thr162Ser)	MDP1, NEDD8-MDP1 (N115K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190778	NM_001199823.3(NEDD8-MDP1):c.428G>A (p.Arg143Gln)	MDP1, NEDD8-MDP1 (R126Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124742	NM_138476.4(MDP1):c.479C>T (p.Ala160Val)	MDP1, NEDD8-MDP1 (A177V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124741	NM_138476.4(MDP1):c.456A>G (p.Gln152=)	MDP1, NEDD8-MDP1 (R106G)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3124740	NM_138476.4(MDP1):c.446C>T (p.Thr149Ile)	MDP1, NEDD8-MDP1 (T149I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124739	NM_138476.4(MDP1):c.431G>A (p.Gly144Glu)	MDP1, NEDD8-MDP1 (G144E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124738	NM_138476.4(MDP1):c.420C>T (p.His140=)	MDP1, NEDD8-MDP1 (H94Y)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3124737	NM_138476.4(MDP1):c.399A>T (p.Lys133Asn)	MDP1, NEDD8-MDP1 (K133N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124736	NM_138476.4(MDP1):c.376C>T (p.Arg126Trp)	MDP1, NEDD8-MDP1 (R126W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124735	NM_138476.4(MDP1):c.232A>G (p.Asn78Asp)	MDP1, NEDD8-MDP1 (N78D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124734	NM_138476.4(MDP1):c.190C>T (p.Pro64Ser)	MDP1, NEDD8-MDP1 (P81S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124733	NM_138476.4(MDP1):c.133G>T (p.Val45Phe)	MDP1, NEDD8-MDP1 (V45F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124732	NM_138476.4(MDP1):c.125G>A (p.Gly42Asp)	MDP1, NEDD8-MDP1 (G59D +1 more)	Single nucleotide variant (missense variant +1 more)	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 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	MRPL52, MYH6 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 2350956	NM_138476.4(MDP1):c.32A>G (p.Asp11Gly)	MDP1, NEDD8-MDP1 (D11G)	Single nucleotide variant (missense variant +1 more)	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 161565	NM_001199823.3(NEDD8-MDP1):c.451C>G (p.Leu151Val)	MDP1, NEDD8-MDP1 (L151V +1 more)	Single nucleotide variant (missense variant +2 more)	Malignant tumor of prostate	GUncertain significance
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

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Links from Gene

Items: 40