ClinVar for Gene (Select 6398) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3159440	NM_003004.3(SECTM1):c.659C>T (p.Pro220Leu)	SECTM1 (P220L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159438	NM_003004.3(SECTM1):c.529C>T (p.Arg177Cys)	SECTM1 (R177C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159437	NM_003004.3(SECTM1):c.358G>A (p.Val120Met)	SECTM1 (V120M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159436	NM_003004.3(SECTM1):c.267C>T (p.Asp89=)	SECTM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3159435	NM_003004.3(SECTM1):c.226G>A (p.Ala76Thr)	SECTM1 (A76T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2671602	Single allele	ASPSCR1, B3GNTL1 +28 more	Duplication	not provided	GUncertain significance
Select item 2598777	NM_003004.3(SECTM1):c.348G>A (p.Met116Ile)	SECTM1 (M116I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556105	NM_003004.3(SECTM1):c.614C>G (p.Ala205Gly)	SECTM1 (A205G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499662	GRCh38/hg38 17q25.3(chr17:82004063-83087346)	ASPSCR1, B3GNTL1 +130 more	Copy number loss	Anomalous pulmonary venous return	GUncertain significance
Select item 2495121	NM_003004.3(SECTM1):c.38C>T (p.Ser13Phe)	SECTM1 (S13F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445210	Single allele	TBCD, TEX19 +51 more	Deletion	See cases	GPathogenic
Select item 2425655	NC_000017.10:g.(?_79891090)_(80333370_?)del	ASPSCR1, CCDC57 +17 more	Deletion	not provided	GPathogenic
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	MAFG, MCRIP1 +52 more	Duplication	not provided	GUncertain significance
Select item 2379525	NM_003004.3(SECTM1):c.736G>A (p.Ala246Thr)	SECTM1 (A246T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2322563	NM_003004.3(SECTM1):c.241G>A (p.Val81Met)	SECTM1 (V81M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273536	NM_003004.3(SECTM1):c.319G>A (p.Ala107Thr)	SECTM1 (A107T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	AFMID, ALYREF +146 more	Copy number gain	not provided	GPathogenic
Select item 1526589	GRCh37/hg19 17q25.3(chr17:79976464-81041938)	B3GNTL1, CCDC57 +27 more	Copy number loss	not specified	GUncertain significance
Select item 994327	NM_003004.3(SECTM1):c.523C>T (p.Gln175Ter)	SECTM1 (Q175*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	AATK, ACTG1 +65 more	Copy number gain	not provided	GPathogenic
Select item 564478	GRCh37/hg19 17q25.3(chr17:80243845-80374899)x1	SECTM1, UTS2R +3 more	Copy number loss	not provided	GLikely benign
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	LOC130062002, LOC130062003 +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 153487	GRCh38/hg38 17q25.3(chr17:82326074-82856150)x3	CYBC1, FN3K +54 more	Copy number gain	See cases	GUncertain significance
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 148281	GRCh38/hg38 17q25.3(chr17:82072338-83102552)x1	B3GNTL1, CCDC57 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 60176	GRCh38/hg38 17q25.3(chr17:82078456-82568008)x3	CCDC57, CD7 +73 more	Copy number gain	See cases	GUncertain significance
Select item 60175	GRCh38/hg38 17q25.3(chr17:81885863-82358856)x3	LOC130062008, LOC130062009 +95 more	Copy number gain	See cases	GUncertain significance
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	LOC130061805, LOC130061806 +1033 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	LOC126862671, LOC126862672 +387 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 40