ClinVar for Gene (Select 26010) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 2684919	GRCh37/hg19 2q33.1(chr2:201262178-201332473)x1	SPATS2L	Copy number loss	not provided	GUncertain significance
Select item 2623627	NM_001100423.2(SPATS2L):c.1145G>A (p.Gly382Glu)	SPATS2L (G322E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613566	NM_001100423.2(SPATS2L):c.1033A>G (p.Lys345Glu)	SPATS2L (K345E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610680	NM_001100423.2(SPATS2L):c.1432G>A (p.Gly478Ser)	SPATS2L (G508S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610431	NM_001100423.2(SPATS2L):c.439G>A (p.Val147Ile)	SPATS2L (V177I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589940	NM_001100423.2(SPATS2L):c.1405C>A (p.His469Asn)	SPATS2L (H400N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2539564	NM_001100423.2(SPATS2L):c.518G>C (p.Arg173Thr)	SPATS2L (R113T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528863	NM_001100423.2(SPATS2L):c.272C>G (p.Pro91Arg)	SPATS2L (P121R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515374	NM_001100423.2(SPATS2L):c.925A>T (p.Met309Leu)	SPATS2L (M249L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514669	NM_001100423.2(SPATS2L):c.418C>T (p.Pro140Ser)	SPATS2L (P80S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486640	NM_001100423.2(SPATS2L):c.1303C>T (p.Arg435Trp)	SPATS2L (R375W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481910	NM_001100423.2(SPATS2L):c.262G>T (p.Val88Leu)	SPATS2L (V118L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406400	NM_001100423.2(SPATS2L):c.1000G>A (p.Ala334Thr)	SPATS2L (A364T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351243	NM_001100423.2(SPATS2L):c.1284T>G (p.Asn428Lys)	SPATS2L (N368K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337963	NM_001100423.2(SPATS2L):c.1423C>T (p.Pro475Ser)	SPATS2L (P415S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336927	NM_001100423.2(SPATS2L):c.809C>T (p.Ser270Leu)	SPATS2L (S270L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323953	NM_001100423.2(SPATS2L):c.1424C>T (p.Pro475Leu)	SPATS2L (P475L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282098	NM_001100423.2(SPATS2L):c.1426C>T (p.His476Tyr)	SPATS2L (H416Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264194	NM_001100423.2(SPATS2L):c.336G>C (p.Glu112Asp)	SPATS2L (E52D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260773	NM_001100423.2(SPATS2L):c.10C>G (p.Leu4Val)	LOC126806466, SPATS2L (L4V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247239	NM_001100423.2(SPATS2L):c.748G>A (p.Val250Met)	SPATS2L (V250M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219774	NM_001100423.2(SPATS2L):c.1553C>T (p.Ser518Leu)	SPATS2L (S449L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 983310	GRCh37/hg19 2q32.3-33.1(chr2:197359024-201383462)x1	BOLL, C2orf66 +20 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 813263	Single allele	ABI2, ALS2 +35 more	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 718410	NM_001100423.2(SPATS2L):c.449G>A (p.Gly150Asp)	SPATS2L (G150D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 687824	GRCh37/hg19 2q33.1(chr2:198852970-201350417)x1	C2orf69, FTCDNL1 +5 more	Copy number loss	not provided	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562676	GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1	ANKRD44, AOX1 +45 more	Copy number loss	not provided	GPathogenic
Select item 562673	GRCh37/hg19 2q32.3-33.1(chr2:193537927-202027736)x1	HSPD1, DNAH7 +34 more	Copy number loss	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 394652	GRCh37/hg19 2q32.3-33.1(chr2:194581315-201752422)x1	ANKRD44, AOX1 +28 more	Copy number loss	See cases	GPathogenic
Select item 253679	GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3	ALS2, AOX1 +25 more	Copy number gain	See cases	GUncertain significance
Select item 221794	GRCh37/hg19 2q33.1(chr2:200250898-201845999)x3	NIF3L1, KCTD18 +13 more	Copy number gain	Premature ovarian failure	GUncertain significance
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	FAM117B, FAM237A +509 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 147739	GRCh38/hg38 2q33.1(chr2:200346708-201156417)x1	AOX1, BZW1 +45 more	Copy number loss	See cases	GPathogenic
Select item 147402	GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1	ALS2, AOX1 +117 more	Copy number loss	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	LOC129935268, LOC129935269 +329 more	Copy number loss	See cases	GPathogenic
Select item 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	AOX1, BOLL +145 more	Copy number loss	See cases	GLikely pathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	ABI2, AGPS +697 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 60