ClinVar for Gene (Select 151258) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3164563	NM_001351537.2(SLC38A11):c.1127T>C (p.Ile376Thr)	SLC38A11 (I181T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164562	NM_001351537.2(SLC38A11):c.259G>A (p.Gly87Arg)	SLC38A11 (G31R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164561	NM_001351537.2(SLC38A11):c.1076G>A (p.Gly359Glu)	SLC38A11 (G359E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164560	NM_001351537.2(SLC38A11):c.961G>C (p.Glu321Gln)	SLC38A11 (E126Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164559	NM_001351537.2(SLC38A11):c.803T>C (p.Ile268Thr)	SLC38A11 (I268T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164558	NM_001351537.2(SLC38A11):c.479C>A (p.Ser160Tyr)	SLC38A11 (S38Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164557	NM_001351537.2(SLC38A11):c.461A>G (p.His154Arg)	SLC38A11 (H154R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164556	NM_001351537.2(SLC38A11):c.448T>A (p.Phe150Ile)	SLC38A11 (F150I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164555	NM_001351537.2(SLC38A11):c.1216G>T (p.Ala406Ser)	SLC38A11 (A284S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 2615398	NM_001351537.2(SLC38A11):c.781G>A (p.Val261Met)	SLC38A11 (V261M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601084	NM_001351537.2(SLC38A11):c.1355A>C (p.Gln452Pro)	SLC38A11 (Q452P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530699	NM_001351537.2(SLC38A11):c.673G>A (p.Gly225Arg)	SLC38A11 (G30R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515703	NM_001351537.2(SLC38A11):c.884A>T (p.Asp295Val)	SLC38A11 (D100V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484440	NM_001351537.2(SLC38A11):c.1075G>A (p.Gly359Arg)	SLC38A11 (G303R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456312	NM_001351537.2(SLC38A11):c.478T>C (p.Ser160Pro)	SLC38A11 (S82P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456128	NM_001351537.2(SLC38A11):c.1360T>C (p.Ser454Pro)	SLC38A11 (S332P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396481	NM_001351537.2(SLC38A11):c.807C>G (p.Phe269Leu)	SLC38A11 (F269L +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2390237	NM_001351537.2(SLC38A11):c.937C>T (p.Pro313Ser)	SLC38A11 (P235S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384729	NM_001351537.2(SLC38A11):c.929T>G (p.Leu310Trp)	SLC38A11 (L115W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364924	NM_001351537.2(SLC38A11):c.262G>T (p.Ala88Ser)	SLC38A11 (A32S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351126	NM_001351537.2(SLC38A11):c.553A>G (p.Thr185Ala)	SLC38A11 (T185A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348152	NM_001351537.2(SLC38A11):c.515G>A (p.Arg172Gln)	SLC38A11 (R116Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327388	NM_001351537.2(SLC38A11):c.1363A>C (p.Thr455Pro)	SLC38A11 (T399P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294642	NM_001351537.2(SLC38A11):c.302A>G (p.Lys101Arg)	SLC38A11 (K101R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270233	NM_001351537.2(SLC38A11):c.721T>G (p.Tyr241Asp)	SLC38A11 (Y46D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249209	NM_001351537.2(SLC38A11):c.709T>G (p.Ser237Ala)	SLC38A11 (S115A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236389	NM_001351537.2(SLC38A11):c.814A>G (p.Thr272Ala)	SLC38A11 (T194A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1526930	GRCh37/hg19 2q24.3(chr2:165794558-166633875)	CSRNP3, GALNT3 +3 more	Copy number gain	not specified	GPathogenic
Select item 1526929	GRCh37/hg19 2q24.3(chr2:165428510-166888012)	COBLL1, CSRNP3 +7 more	Copy number loss	not specified	GPathogenic
Select item 1526927	GRCh37/hg19 2q24.2-24.3(chr2:163168812-167567296)	COBLL1, CSRNP3 +13 more	Copy number gain	not specified	GPathogenic
Select item 1526925	GRCh37/hg19 2q24.2-24.3(chr2:161551326-167762790)	COBLL1, CSRNP3 +21 more	Copy number loss	not specified	GPathogenic
Select item 1339653	GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	METTL8, PSMD14 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 814339	GRCh37/hg19 2q24.3(chr2:165676080-165768131)x1	COBLL1, SLC38A11	Copy number loss	not provided	GUncertain significance
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 786867	NM_001351537.2(SLC38A11):c.689-10dup	SLC38A11	Duplication (intron variant)	not provided	GBenign
Select item 635918	NC_000002.11:g.165492423_165973543dup	COBLL1, SCN3A +1 more	Duplication	Epilepsy	GUncertain significance
Select item 626293	Single allele	COBLL1, CSRNP3 +18 more	Deletion	not provided	GPathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 493569	GRCh37/hg19 2q24.3-31.1(chr2:165173620-169779326)x1	CSRNP3, G6PC2 +16 more	Copy number loss	not provided	GLikely pathogenic
Select item 443473	GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1	ACVR1, ACVR1C +42 more	Copy number loss	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442713	GRCh37/hg19 2q24.3(chr2:165065255-166517749)	COBLL1, CSRNP3 +4 more	Copy number gain	See cases	GLikely pathogenic
Select item 442396	GRCh37/hg19 2q24.3(chr2:164366067-169069454)x1	B3GALT1, COBLL1 +13 more	Copy number loss	See cases	GPathogenic
Select item 442365	GRCh37/hg19 2q24.3(chr2:165417233-166231299)x4	COBLL1, GRB14 +3 more	Copy number gain	See cases	GLikely benign
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 153729	GRCh38/hg38 2q24.3(chr2:164941760-165764726)x3	CSRNP3, GALNT3 +9 more	Copy number gain	See cases	GLikely pathogenic
Select item 148708	GRCh38/hg38 2q24.3(chr2:164220427-164906646)x1	COBLL1, GRB14 +7 more	Copy number loss	See cases	GUncertain significance
Select item 148507	GRCh38/hg38 2q24.3(chr2:163419387-165682938)x1	COBLL1, CSRNP3 +26 more	Copy number loss	See cases	GLikely pathogenic
Select item 144471	GRCh38/hg38 2q24.3(chr2:164920562-167536439)x3	B3GALT1, CSRNP3 +25 more	Copy number gain	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60245	GRCh38/hg38 2q24.3(chr2:163455290-166962322)x1	COBLL1, CSRNP3 +38 more	Copy number loss	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	BAZ2B, BAZ2B-AS1 +197 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 60