ClinVar for Gene (Select 29986) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319754	NM_014579.4(SLC39A2):c.296A>T (p.His99Leu)	LOC126861883, SLC39A2 (H99L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3319753	NM_014579.4(SLC39A2):c.55A>C (p.Thr19Pro)	LOC126861883, SLC39A2 (T19P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319752	NM_014579.4(SLC39A2):c.94T>C (p.Phe32Leu)	LOC126861883, SLC39A2 (F32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244070	NC_000014.8:g.(?_20915399)_(22005055_?)dup	ANG, APEX1 +38 more	Duplication	not provided	GUncertain significance
Select item 3164672	NM_014579.4(SLC39A2):c.889G>A (p.Ala297Thr)	SLC39A2 (A297T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3164671	NM_014579.4(SLC39A2):c.707C>G (p.Pro236Arg)	SLC39A2 (P236R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3164670	NM_014579.4(SLC39A2):c.702G>A (p.Met234Ile)	SLC39A2 (M234I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3164669	NM_014579.4(SLC39A2):c.574A>G (p.Thr192Ala)	SLC39A2 (T192A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3164667	NM_014579.4(SLC39A2):c.201A>C (p.Glu67Asp)	LOC126861883, SLC39A2 (E67D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164666	NM_014579.4(SLC39A2):c.190A>G (p.Met64Val)	LOC126861883, SLC39A2 (M64V)	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 2422759	NC_000014.8:g.(?_20915399)_(22005055_?)del	METTL3, ANG +38 more	Deletion	Purine-nucleoside phosphorylase deficiency	GPathogenic
Select item 2410195	NM_014579.4(SLC39A2):c.560C>T (p.Pro187Leu)	SLC39A2 (P187L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2397308	NM_014579.4(SLC39A2):c.761G>A (p.Arg254Gln)	SLC39A2 (R254Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2390112	NM_014579.4(SLC39A2):c.462T>A (p.His154Gln)	SLC39A2 (H154Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2388467	NM_014579.4(SLC39A2):c.724G>C (p.Gly242Arg)	SLC39A2 (G242R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2336888	NM_014579.4(SLC39A2):c.252A>T (p.Arg84Ser)	LOC126861883, SLC39A2 (I83F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332028	NM_014579.4(SLC39A2):c.638G>A (p.Arg213Gln)	SLC39A2 (R213Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2296316	NM_014579.4(SLC39A2):c.64T>C (p.Cys22Arg)	LOC126861883, SLC39A2 (C22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250895	NM_014579.4(SLC39A2):c.481G>T (p.Gly161Cys)	SLC39A2 (G161C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2207683	NM_014579.4(SLC39A2):c.430G>A (p.Ala144Thr)	SLC39A2 (A144T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1808729	GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1	ABHD4, ANG +52 more	Copy number loss	not provided	GPathogenic
Select item 1807993	GRCh37/hg19 14q11.2(chr14:21349608-21618292)x3	ARHGEF40, METTL17 +10 more	Copy number gain	not provided	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 1527802	GRCh37/hg19 14q11.2(chr14:21451544-21962317)	ARHGEF40, CHD8 +15 more	Copy number gain	not specified	GUncertain significance
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 1243818	NM_014579.4(SLC39A2):c.128T>G (p.Leu43Arg)	LOC126861883, SLC39A2 (L43R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 980000	GRCh37/hg19 14q11.2(chr14:20511672-21915516)x1	ANG, APEX1 +46 more	Copy number loss	not provided	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 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 716441	NM_014579.4(SLC39A2):c.433C>T (p.His145Tyr)	SLC39A2 (H145Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 711583	NM_014579.4(SLC39A2):c.561G>A (p.Pro187=)	SLC39A2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 687290	GRCh37/hg19 14q11.2(chr14:21424506-21589630)x3	ARHGEF40, METTL17 +9 more	Copy number gain	not provided	GUncertain significance
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 564121	GRCh37/hg19 14q11.2(chr14:21417035-21962317)x3	SUPT16H, TMEM253 +16 more	Copy number gain	not provided	GUncertain significance
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 253894	GRCh37/hg19 14q11.2(chr14:20978713-21575128)x3	ANG, ARHGEF40 +25 more	Copy number gain	See cases	GUncertain significance
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 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 59933	GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3	ANG, APEX1 +119 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 57747	GRCh38/hg38 14q11.2(chr14:20908863-21576473)x1	ARHGEF40, CHD8 +48 more	Copy number loss	See cases	GPathogenic
Select item 57746	GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1	ANG, ARHGEF40 +108 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
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 55