SLC3A2[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149385	GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3	AHNAK, ASRGL1 +110 more	Copy number gain	See cases	GPathogenic
Select item 59754	GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3	AHNAK, B3GAT3 +105 more	Copy number gain	See cases	GPathogenic
Select item 59755	GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3	AHNAK, B3GAT3 +95 more	Copy number gain	See cases	GPathogenic
Select item 3164749	NM_001012662.3(SLC3A2):c.6G>A (p.Glu2=)	SLC3A2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2308811	NM_001012662.3(SLC3A2):c.17C>T (p.Pro6Leu)	SLC3A2 (P6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455622	NM_001012662.3(SLC3A2):c.23C>T (p.Ala8Val)	SLC3A2 (A8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164747	NM_001012662.3(SLC3A2):c.34G>T (p.Val12Phe)	SLC3A2 (V12F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726883	NM_001012662.3(SLC3A2):c.112+8A>T	SLC3A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2204839	NM_001012662.3(SLC3A2):c.236C>A (p.Ala79Asp)	SLC3A2 (A79D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319635	NM_001012662.3(SLC3A2):c.259A>G (p.Ile87Val)	SLC3A2 (I87V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781000	NM_001012662.3(SLC3A2):c.301+3G>A	SLC3A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2379958	NM_001013251.3(SLC3A2):c.79G>T (p.Ala27Ser)	LOC126861229, SLC3A2 (A27S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512402	NM_001013251.3(SLC3A2):c.112G>C (p.Glu38Gln)	LOC126861229, SLC3A2 (E140Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493670	NM_001013251.3(SLC3A2):c.137A>G (p.Lys46Arg)	LOC126861229, SLC3A2 (K147R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731618	NM_001013251.3(SLC3A2):c.141G>A (p.Val47=)	LOC126861229, SLC3A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619612	NM_001013251.3(SLC3A2):c.227G>T (p.Gly76Val)	LOC126861229, SLC3A2 (G178V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789624	NM_001013251.3(SLC3A2):c.253C>T (p.Leu85=)	LOC126861229, SLC3A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726361	NM_001013251.3(SLC3A2):c.291T>G (p.Ala97=)	LOC126861229, SLC3A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2270487	NM_001013251.3(SLC3A2):c.293G>T (p.Gly98Val)	LOC126861229, SLC3A2 (G98V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 753589	NM_001013251.3(SLC3A2):c.424+9A>G	SLC3A2, LOC126861229	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3164750	NM_001013251.3(SLC3A2):c.425G>T (p.Gly142Val)	LOC126861229, SLC3A2 (G181V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383537	NM_001013251.3(SLC3A2):c.481G>T (p.Gly161Cys)	LOC126861229, SLC3A2 (G262C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360036	NM_001013251.3(SLC3A2):c.487A>G (p.Ile163Val)	LOC126861229, SLC3A2 (I163V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221263	NM_001013251.3(SLC3A2):c.505G>A (p.Asp169Asn)	LOC126861229, SLC3A2 (D270N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292850	NM_001013251.3(SLC3A2):c.654C>G (p.Phe218Leu)	SLC3A2 (F218L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 722960	NM_001013251.3(SLC3A2):c.684G>A (p.Lys228=)	SLC3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3164741	NM_001013251.3(SLC3A2):c.740G>A (p.Arg247Gln)	SLC3A2 (R247Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312637	NM_001013251.3(SLC3A2):c.772T>G (p.Phe258Val)	SLC3A2 (F360V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291012	NM_001013251.3(SLC3A2):c.871C>T (p.Leu291Phe)	SLC3A2 (L392F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460856	NM_001013251.3(SLC3A2):c.897G>T (p.Leu299Phe)	SLC3A2 (L299F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374170	NM_001013251.3(SLC3A2):c.902G>T (p.Ser301Ile)	SLC3A2 (S340I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395224	NM_001013251.3(SLC3A2):c.980A>G (p.Asn327Ser)	SLC3A2 (N429S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 722723	NM_001013251.3(SLC3A2):c.1013G>T (p.Arg338Met)	SLC3A2 (R338M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 758195	NM_001013251.3(SLC3A2):c.1026C>G (p.Ser342=)	SLC3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2393364	NM_001013251.3(SLC3A2):c.1036G>A (p.Ala346Thr)	SLC3A2 (A447T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164742	NM_001013251.3(SLC3A2):c.1065G>T (p.Met355Ile)	SLC3A2 (M456I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371586	NM_001013251.3(SLC3A2):c.1147A>G (p.Met383Val)	SLC3A2 (M383V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 789487	NM_001013251.3(SLC3A2):c.1243C>T (p.Pro415Ser)	SLC3A2 (P415S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3164743	NM_001013251.3(SLC3A2):c.1271G>A (p.Arg424Gln)	SLC3A2 (R525Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3164744	NM_001013251.3(SLC3A2):c.1297C>T (p.Arg433Cys)	SLC3A2 (R534C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776620	NM_001013251.3(SLC3A2):c.1303C>T (p.Leu435=)	SLC3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 781678	NM_001013251.3(SLC3A2):c.1326G>A (p.Ala442=)	SLC3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3164745	NM_001013251.3(SLC3A2):c.1408G>T (p.Asp470Tyr)	SLC3A2 (D470Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356073	NM_001013251.3(SLC3A2):c.1441G>A (p.Asp481Asn)	SLC3A2 (D583N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770218	NM_001013251.3(SLC3A2):c.1471A>C (p.Lys491Gln)	SLC3A2 (K530Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3164746	NM_001013251.3(SLC3A2):c.1475C>G (p.Ala492Gly)	SLC3A2 (A531G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551711	NM_001013251.3(SLC3A2):c.1528C>G (p.Leu510Val)	SLC3A2 (L549V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335059	NM_001013251.3(SLC3A2):c.1583C>T (p.Ala528Val)	SLC3A2 (A629V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3052173	NM_001013251.3(SLC3A2):c.1584G>A (p.Ala528=)	SLC3A2	Single nucleotide variant (synonymous variant +1 more)	SLC3A2-related disorder	GLikely benign
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 689150	GRCh37/hg19 11q12.3(chr11:62314663-62788240)x3	B3GAT3, BSCL2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 685584	GRCh37/hg19 11q12.3(chr11:62487052-62788240)x3	CHRM1, HNRNPUL2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 394819	GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1	AHNAK, ASRGL1 +47 more	Copy number loss	See cases	GLikely pathogenic

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Items: 60