ClinVar for Gene (Select 222223) - ClinVar

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Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3088212	NM_001142749.3(ELAPOR2):c.985G>A (p.Asp329Asn)	ELAPOR2 (D215N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088211	NM_001142749.3(ELAPOR2):c.722G>T (p.Gly241Val)	ELAPOR2 (G74V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088210	NM_001142749.3(ELAPOR2):c.674A>G (p.Gln225Arg)	ELAPOR2 (Q225R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088209	NM_001142749.3(ELAPOR2):c.56A>C (p.Glu19Ala)	ELAPOR2 (E19A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088208	NM_001142749.3(ELAPOR2):c.524G>A (p.Arg175His)	ELAPOR2 (R175H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088207	NM_001142749.3(ELAPOR2):c.3085A>G (p.Ile1029Val)	ELAPOR2 (I915V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088206	NM_001142749.3(ELAPOR2):c.2963A>T (p.Asn988Ile)	ELAPOR2 (N748I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088205	NM_001142749.3(ELAPOR2):c.2927C>T (p.Ala976Val)	ELAPOR2 (A736V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088204	NM_001142749.3(ELAPOR2):c.2897C>T (p.Thr966Met)	ELAPOR2 (T726M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088203	NM_001142749.3(ELAPOR2):c.2849G>T (p.Trp950Leu)	ELAPOR2 (W710L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088202	NM_001142749.3(ELAPOR2):c.2836A>T (p.Thr946Ser)	ELAPOR2 (T706S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088201	NM_001142749.3(ELAPOR2):c.2756C>T (p.Ala919Val)	ELAPOR2 (A679V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088200	NM_001142749.3(ELAPOR2):c.2755G>T (p.Ala919Ser)	ELAPOR2 (A679S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3088199	NM_001142749.3(ELAPOR2):c.2652T>A (p.His884Gln)	ELAPOR2 (H770Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088198	NM_001142749.3(ELAPOR2):c.2636C>T (p.Thr879Met)	ELAPOR2 (T639M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088197	NM_001142749.3(ELAPOR2):c.2591C>T (p.Thr864Met)	ELAPOR2 (T864M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088196	NM_001142749.3(ELAPOR2):c.2570C>T (p.Ala857Val)	ELAPOR2 (A617V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088195	NM_001142749.3(ELAPOR2):c.2542G>A (p.Val848Met)	ELAPOR2 (V681M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088194	NM_001142749.3(ELAPOR2):c.2492G>A (p.Arg831Gln)	ELAPOR2 (R717Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088193	NM_001142749.3(ELAPOR2):c.2233G>A (p.Gly745Arg)	ELAPOR2 (G631R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088192	NM_001142749.3(ELAPOR2):c.2209T>G (p.Phe737Val)	ELAPOR2 (F737V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088191	NM_001142749.3(ELAPOR2):c.1991A>G (p.Asn664Ser)	ELAPOR2 (N424S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088190	NM_001142749.3(ELAPOR2):c.1666A>G (p.Ile556Val)	ELAPOR2 (I389V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3088189	NM_001142749.3(ELAPOR2):c.1582T>C (p.Tyr528His)	ELAPOR2 (Y288H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088188	NM_001142749.3(ELAPOR2):c.1558C>T (p.Leu520Phe)	ELAPOR2 (L280F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088187	NM_001142749.3(ELAPOR2):c.1504A>G (p.Met502Val)	ELAPOR2 (M335V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088186	NM_001142749.3(ELAPOR2):c.1481C>T (p.Pro494Leu)	ELAPOR2 (P494L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088185	NM_001142749.3(ELAPOR2):c.1415G>A (p.Gly472Glu)	ELAPOR2 (G305E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088184	NM_001142749.3(ELAPOR2):c.1382A>T (p.Lys461Met)	ELAPOR2 (K221M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088183	NM_001142749.3(ELAPOR2):c.1366A>G (p.Asn456Asp)	ELAPOR2 (N456D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088182	NM_001142749.3(ELAPOR2):c.1279C>T (p.Pro427Ser)	ELAPOR2 (P187S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088181	NM_001142749.3(ELAPOR2):c.1187C>T (p.Pro396Leu)	ELAPOR2 (P229L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088180	NM_001142749.3(ELAPOR2):c.1159C>T (p.Pro387Ser)	ELAPOR2 (P387S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088179	NM_001142749.3(ELAPOR2):c.1108T>C (p.Trp370Arg)	ELAPOR2 (W203R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088178	NM_001142749.3(ELAPOR2):c.1100T>C (p.Met367Thr)	ELAPOR2 (M127T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088177	NM_001142749.3(ELAPOR2):c.1027C>T (p.Arg343Cys)	ELAPOR2 (R229C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088176	NM_001142749.3(ELAPOR2):c.1013G>A (p.Ser338Asn)	ELAPOR2 (S224N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024641	GRCh37/hg19 7q21.12(chr7:86479686-86605205)x3	ELAPOR2, GRM3	Copy number gain	not provided	GUncertain significance
Select item 2603906	NM_001142749.3(ELAPOR2):c.2467G>A (p.Ala823Thr)	ELAPOR2 (A583T +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2596621	NM_001142749.3(ELAPOR2):c.2989A>G (p.Lys997Glu)	ELAPOR2 (K997E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566158	NM_001142749.3(ELAPOR2):c.809C>T (p.Ala270Val)	ELAPOR2 (A270V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561449	NM_001142749.3(ELAPOR2):c.979A>G (p.Lys327Glu)	ELAPOR2 (K327E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550964	NM_001142749.3(ELAPOR2):c.1546G>C (p.Val516Leu)	ELAPOR2 (V516L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550594	NM_001142749.3(ELAPOR2):c.730G>A (p.Gly244Ser)	ELAPOR2 (G77S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544962	NM_001142749.3(ELAPOR2):c.746T>C (p.Met249Thr)	ELAPOR2 (M135T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540133	NM_001142749.3(ELAPOR2):c.2257G>A (p.Val753Ile)	ELAPOR2 (V753I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537620	NM_001142749.3(ELAPOR2):c.2896A>G (p.Thr966Ala)	ELAPOR2 (T726A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528169	NM_001142749.3(ELAPOR2):c.497G>C (p.Gly166Ala)	ELAPOR2 (G166A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524339	NM_001142749.3(ELAPOR2):c.1295C>G (p.Thr432Arg)	ELAPOR2 (T318R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517584	NM_001142749.3(ELAPOR2):c.602A>C (p.Tyr201Ser)	ELAPOR2 (Y34S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513426	NM_001142749.3(ELAPOR2):c.3060A>C (p.Gln1020His)	ELAPOR2 (Q780H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511478	NM_001142749.3(ELAPOR2):c.2768C>T (p.Thr923Met)	ELAPOR2 (T683M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511278	NM_001142749.3(ELAPOR2):c.519C>G (p.Ile173Met)	ELAPOR2 (I6M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510533	NM_001142749.3(ELAPOR2):c.1381A>G (p.Lys461Glu)	ELAPOR2 (K221E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487338	NM_001142749.3(ELAPOR2):c.3043C>T (p.His1015Tyr)	ELAPOR2 (H1015Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482097	NM_001142749.3(ELAPOR2):c.2431A>G (p.Ile811Val)	ELAPOR2 (I644V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481652	NM_001142749.3(ELAPOR2):c.590A>G (p.Lys197Arg)	ELAPOR2 (K197R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563413	GRCh37/hg19 7q21.11-21.12(chr7:83506642-86647926)x1	ELAPOR2, SEMA3D +2 more	Copy number loss	not provided	GUncertain significance
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 254280	Single allele	CACNA2D1, CACNA2D1-AS1 +79 more	Deletion	Seizure +1 more	GLikely pathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	ABCB1, ABCB4 +227 more	Copy number loss	See cases	GPathogenic
Select item 151091	GRCh38/hg38 7q21.11-21.12(chr7:85213685-87058277)x1	ELAPOR2, GRM3 +12 more	Copy number loss	See cases	GUncertain significance
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59621	GRCh38/hg38 7q21.11-21.12(chr7:86669909-87492659)x3	ABCB4, CROT +30 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 72