ClinVar for Gene (Select 6645) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243300	NC_000016.9:g.(?_68679283)_(72146396_?)del	AP1G1, AARS1 +51 more	Deletion	Immunodeficiency	GUncertain significance
Select item 3167085	NM_006750.4(SNTB2):c.65C>T (p.Ala22Val)	SNTB2 (A22V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167084	NM_006750.4(SNTB2):c.557C>T (p.Ala186Val)	SNTB2 (A186V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167083	NM_006750.4(SNTB2):c.370G>A (p.Gly124Ser)	SNTB2 (G124S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167082	NM_006750.4(SNTB2):c.313G>A (p.Gly105Ser)	SNTB2 (G105S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167081	NM_006750.4(SNTB2):c.296C>T (p.Pro99Leu)	SNTB2 (P99L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167080	NM_006750.4(SNTB2):c.286C>T (p.Pro96Ser)	SNTB2 (P96S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167079	NM_006750.4(SNTB2):c.23C>T (p.Ala8Val)	SNTB2 (A8V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167078	NM_006750.4(SNTB2):c.221C>T (p.Pro74Leu)	SNTB2 (P74L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167077	NM_006750.4(SNTB2):c.1592C>T (p.Ala531Val)	SNTB2 (A531V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167076	NM_006750.4(SNTB2):c.1559C>T (p.Pro520Leu)	SNTB2 (P520L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063446	GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3	ACD, C16orf86 +48 more	Copy number gain	not specified	GUncertain significance
Select item 2684810	GRCh37/hg19 16q22.1(chr16:68292285-69424236)x3	CDH1, CDH3 +17 more	Copy number gain	not provided	GUncertain significance
Select item 2623249	NM_006750.4(SNTB2):c.658C>A (p.Pro220Thr)	SNTB2 (P220T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590501	NM_006750.4(SNTB2):c.57G>C (p.Trp19Cys)	SNTB2 (W19C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589476	NM_006750.4(SNTB2):c.229G>T (p.Gly77Cys)	SNTB2 (G77C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569530	NM_006750.4(SNTB2):c.16G>C (p.Ala6Pro)	SNTB2 (A6P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560874	NM_006750.4(SNTB2):c.877G>A (p.Val293Ile)	SNTB2 (V293I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523005	NM_006750.4(SNTB2):c.614A>C (p.Lys205Thr)	SNTB2 (K205T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518715	NM_006750.4(SNTB2):c.1267C>T (p.Arg423Trp)	SNTB2 (R423W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457403	NM_006750.4(SNTB2):c.698C>T (p.Ser233Leu)	SNTB2 (S233L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	AARS1, ACD +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2407373	NM_006750.4(SNTB2):c.272T>G (p.Leu91Arg)	SNTB2 (L91R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394154	NM_006750.4(SNTB2):c.1604G>A (p.Arg535His)	SNTB2 (R535H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359852	NM_006750.4(SNTB2):c.1322A>T (p.Glu441Val)	SNTB2 (E441V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337103	NM_006750.4(SNTB2):c.842G>A (p.Arg281His)	SNTB2 (R281H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332453	NM_006750.4(SNTB2):c.1193C>G (p.Ser398Cys)	SNTB2 (S398C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295470	NM_006750.4(SNTB2):c.964G>A (p.Gly322Ser)	SNTB2 (G322S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257819	NM_006750.4(SNTB2):c.283A>C (p.Ser95Arg)	SNTB2 (S95R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254465	NM_006750.4(SNTB2):c.708C>A (p.His236Gln)	SNTB2 (H236Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219543	NM_006750.4(SNTB2):c.1595A>G (p.Lys532Arg)	SNTB2 (K532R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209460	NM_006750.4(SNTB2):c.20C>T (p.Thr7Ile)	SNTB2 (T7I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1706519	GRCh37/hg19 16q22.1-23.1(chr16:68971067-74823560)x1	TXNL4B, UTP4 +59 more	Copy number loss	See cases	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 1526514	GRCh37/hg19 16q22.1(chr16:68850677-69377553)	SNTB2, CDH1 +9 more	Copy number gain	not specified	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
Select item 808177	GRCh37/hg19 16q22.1(chr16:68679283-69221649)x3	CDH1, CDH3 +5 more	Copy number gain	not provided	GUncertain significance
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 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
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 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 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +572 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 147385	GRCh38/hg38 16q22.1(chr16:69144650-70257882)x1	AARS1, CLEC18A +57 more	Copy number loss	See cases	GUncertain significance
Select item 147207	GRCh38/hg38 16q22.1(chr16:68937032-69254118)x3	CHTF8, DERPC +9 more	Copy number gain	See cases	GUncertain significance
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 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 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 61