ClinVar for Gene (Select 130814) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320096	NM_152391.5(SLC66A3):c.299T>G (p.Leu100Trp)	SLC66A3 (L100W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3320095	NM_152391.5(SLC66A3):c.500C>A (p.Thr167Asn)	SLC66A3 (T167N)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3165347	NM_152391.5(SLC66A3):c.68C>G (p.Pro23Arg)	SLC66A3 (P23R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165346	NM_152391.5(SLC66A3):c.482T>A (p.Ile161Lys)	SLC66A3 (I161K)	Single nucleotide variant (stop lost +3 more)	not specified	GUncertain significance
Select item 3165345	NM_152391.5(SLC66A3):c.424T>G (p.Ser142Ala)	SLC66A3 (S142A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3165343	NM_152391.5(SLC66A3):c.416C>T (p.Thr139Met)	SLC66A3 (T139M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3165342	NM_152391.5(SLC66A3):c.337A>G (p.Ile113Val)	SLC66A3 (I113V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3165341	NM_152391.5(SLC66A3):c.30C>A (p.Asn10Lys)	SLC66A3 (N10K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165340	NM_152391.5(SLC66A3):c.26G>A (p.Cys9Tyr)	SLC66A3 (C9Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165339	NM_152391.5(SLC66A3):c.268G>A (p.Val90Met)	SLC66A3 (V90M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165338	NM_152391.5(SLC66A3):c.161G>A (p.Arg54Gln)	SLC66A3 (R54Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165337	NM_152391.5(SLC66A3):c.160C>T (p.Arg54Trp)	SLC66A3 (R54W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165336	NM_152391.5(SLC66A3):c.133G>C (p.Glu45Gln)	LOC129933118, SLC66A3 (E45Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165335	NM_152391.5(SLC66A3):c.126A>C (p.Leu42Phe)	LOC129933118, SLC66A3 (L42F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 2597475	NM_152391.5(SLC66A3):c.376G>A (p.Ala126Thr)	SLC66A3 (A126T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2593691	NM_152391.5(SLC66A3):c.464A>G (p.Tyr155Cys)	SLC66A3 (Y155C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2533997	NM_152391.5(SLC66A3):c.506A>G (p.Asn169Ser)	SLC66A3 (N169S)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2511303	NM_152391.5(SLC66A3):c.86T>C (p.Leu29Pro)	SLC66A3 (L29P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459431	NM_152391.5(SLC66A3):c.577C>T (p.Arg193Cys)	SLC66A3 (R179C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	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 1340626	GRCh37/hg19 2p25.1(chr2:9717186-12013065)x1	ATP6V1C2, C2orf48 +19 more	Copy number loss	not provided	GUncertain significance
Select item 1340405	GRCh37/hg19 2p25.1-24.3(chr2:8935077-15722794)x1	ADAM17, ASAP2 +29 more	Copy number loss	not provided	GUncertain significance
Select item 979983	GRCh37/hg19 2p25.1-24.3(chr2:11144226-12569011)x3	E2F6, SLC66A3 +6 more	Copy number gain	not provided	GUncertain significance
Select item 545241	NC_000002.12:g.(?_11177745)_(16113827_?)del	MYCNUT, NBAS +100 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	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 402129	GRCh37/hg19 2p25.1-24.3(chr2:11142721-12660466)x1	LINC00570, NTSR2 +6 more	Copy number loss	See cases	GUncertain significance
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 154445	GRCh38/hg38 2p25.1-24.3(chr2:10790663-14417134)x3	C2orf50, E2F6 +98 more	Copy number gain	See cases	GPathogenic
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 43