25582[HGNC] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 2609883	NM_018231.3(SLC38A7):c.1378C>T (p.Leu460Phe)	SLC38A7 (L460F)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 788149	NM_018231.3(SLC38A7):c.1362C>T (p.Asn454=)	SLC38A7 (T320M)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2303369	NM_018231.3(SLC38A7):c.1220T>C (p.Phe407Ser)	SLC38A7 (F407S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3164594	NM_018231.3(SLC38A7):c.1207G>T (p.Ala403Ser)	SLC38A7 (A403S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2393905	NM_018231.3(SLC38A7):c.1207G>A (p.Ala403Thr)	SLC38A7 (A403T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3164593	NM_018231.3(SLC38A7):c.1180G>T (p.Val394Leu)	SLC38A7 (V394L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255464	NM_018231.3(SLC38A7):c.1174G>A (p.Gly392Ser)	SLC38A7 (G392S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2456205	NM_018231.3(SLC38A7):c.1058G>A (p.Arg353His)	SLC38A7 (R353H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3164598	NM_018231.3(SLC38A7):c.967G>A (p.Val323Ile)	SLC38A7 (V323I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2300766	NM_018231.3(SLC38A7):c.961G>A (p.Val321Met)	SLC38A7 (V321M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2516768	NM_018231.3(SLC38A7):c.956T>C (p.Met319Thr)	SLC38A7 (M319T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2329340	NM_018231.3(SLC38A7):c.865G>A (p.Ala289Thr)	SLC38A7 (A289T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708450	NM_018231.3(SLC38A7):c.864C>T (p.Leu288=)	SLC38A7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2613612	NM_018231.3(SLC38A7):c.847G>A (p.Ala283Thr)	SLC38A7 (A283T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308875	NM_018231.3(SLC38A7):c.530A>G (p.Lys177Arg)	SLC38A7 (K177R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546684	NM_018231.3(SLC38A7):c.499G>C (p.Gly167Arg)	SLC38A7 (G167R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478936	NM_018231.3(SLC38A7):c.367T>C (p.Cys123Arg)	SLC38A7 (C123R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164597	NM_018231.3(SLC38A7):c.317G>A (p.Cys106Tyr)	SLC38A7 (C106Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267737	NM_018231.3(SLC38A7):c.197G>T (p.Gly66Val)	SLC38A7 (G66V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164596	NM_018231.3(SLC38A7):c.194T>G (p.Leu65Arg)	SLC38A7 (L65R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463337	NM_018231.3(SLC38A7):c.178G>A (p.Val60Ile)	SLC38A7 (V60I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164595	NM_018231.3(SLC38A7):c.149C>T (p.Thr50Ile)	SLC38A7 (T50I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708121	NM_018231.3(SLC38A7):c.29A>G (p.Tyr10Cys)	SLC38A7 (Y10C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 2426846	NC_000016.9:g.(?_57016057)_(58768132_?)del	ADGRG1, ADGRG3 +34 more	Deletion	not provided	GPathogenic
Select item 2426640	NC_000016.9:g.(?_56226148)_(58768132_?)del	ADGRG1, ADGRG3 +54 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 1807955	GRCh37/hg19 16q21(chr16:58694271-58831729)x1	GOT2, SLC38A7	Copy number loss	not provided	GUncertain significance
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 980679	GRCh37/hg19 16q13-21(chr16:57292407-59103985)x1	CCL17, ADGRG1 +28 more	Copy number loss	not provided	GUncertain significance
Select item 687857	GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3	ADGRG1, ADGRG3 +68 more	Copy number gain	not provided	GUncertain significance
Select item 564334	GRCh37/hg19 16q13-21(chr16:56950941-60203590)x1	ADGRG1, ADGRG3 +35 more	Copy number loss	not provided	GPathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	SLC7A6, SLC7A6OS +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 50