3002[Gene ID] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	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 2549077	NM_004131.6(GZMB):c.740A>G (p.Tyr247Cys)	GZMB (Y247C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360128	NM_004131.6(GZMB):c.736C>T (p.Arg246Cys)	GZMB (R234C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103408	NM_004131.6(GZMB):c.731T>C (p.Met244Thr)	GZMB (M232T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375551	NM_004131.6(GZMB):c.731T>A (p.Met244Lys)	GZMB (M244K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486406	NM_004131.6(GZMB):c.704G>T (p.Ser235Ile)	GZMB (S235I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590525	NM_004131.6(GZMB):c.662G>A (p.Arg221Gln)	GZMB (R209Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774488	NM_004131.6(GZMB):c.657T>C (p.Tyr219=)	GZMB	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 708445	NM_004131.6(GZMB):c.630C>A (p.Asn210Lys)	GZMB (N198K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3283225	NM_004131.6(GZMB):c.565G>A (p.Val189Met)	GZMB (V177M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2644144	NM_004131.6(GZMB):c.539A>G (p.Tyr180Cys)	GZMB (Y168C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3283228	NM_004131.6(GZMB):c.512G>A (p.Arg171Gln)	GZMB (R159Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2621491	NM_004131.6(GZMB):c.499G>A (p.Val167Met)	GZMB (V155M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283559	NM_004131.6(GZMB):c.493A>G (p.Met165Val)	GZMB (M165V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 748776	NM_004131.6(GZMB):c.480A>G (p.Leu160=)	GZMB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3283227	NM_004131.6(GZMB):c.458T>C (p.Leu153Pro)	GZMB (L141P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522572	NM_004131.6(GZMB):c.436G>A (p.Gly146Ser)	GZMB (G146S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283229	NM_004131.6(GZMB):c.400G>T (p.Ala134Ser)	GZMB (A122S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288271	NM_004131.6(GZMB):c.383G>A (p.Arg128Lys)	GZMB (R116K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769857	NM_004131.6(GZMB):c.321C>T (p.Asn107=)	GZMB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769858	NM_004131.6(GZMB):c.280C>G (p.Pro94Ala)	GZMB (P94A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3283230	NM_004131.6(GZMB):c.250C>G (p.Pro84Ala)	GZMB (P72A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769859	NM_004131.6(GZMB):c.240A>G (p.Lys80=)	GZMB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2313644	NM_004131.6(GZMB):c.214G>A (p.Val72Ile)	GZMB (V60I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103407	NM_004131.6(GZMB):c.175G>A (p.Val59Met)	GZMB (V47M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103406	NM_004131.6(GZMB):c.151G>A (p.Gly51Ser)	GZMB (G39S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530127	NM_004131.6(GZMB):c.143G>A (p.Arg48Lys)	GZMB (R36K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386129	NM_004131.6(GZMB):c.94C>T (p.Arg32Cys)	GZMB (R20C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283231	NM_004131.6(GZMB):c.78G>C (p.Glu26Asp)	GZMB (E14D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312983	NM_004131.6(GZMB):c.70G>A (p.Gly24Arg)	GZMB (G24R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283226	NM_004131.6(GZMB):c.68G>C (p.Gly23Ala)	GZMB (G11A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569900	NM_004131.6(GZMB):c.67G>A (p.Gly23Arg)	GZMB (G23R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 737844	NM_004131.6(GZMB):c.55+10C>G	GZMB, LOC126861903	Single nucleotide variant (intron variant)	not provided	GBenign
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 1809348	GRCh37/hg19 14q12-13.1(chr14:24959823-33415359)x1	AKAP6, AP4S1 +19 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 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 441871	GRCh37/hg19 14q12(chr14:24917041-25611546)x3	CMA1, CTSG +3 more	Copy number gain	See cases	GUncertain significance
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: 56