ClinVar for Gene (Select 221301) - ClinVar

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

Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328533	NM_001139444.3(TRAPPC3L):c.35A>G (p.His12Arg)	CALHM4, TRAPPC3L (H12R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262975	NM_001366078.2(CALHM4):c.916A>G (p.Arg306Gly)	CALHM4 (R163G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3181997	NM_001139444.3(TRAPPC3L):c.52C>T (p.Leu18Phe)	CALHM4, TRAPPC3L (L18F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181995	NM_001139444.3(TRAPPC3L):c.224T>C (p.Ile75Thr)	CALHM4, TRAPPC3L (I75T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3136715	NM_001366078.2(CALHM4):c.877T>C (p.Phe293Leu)	CALHM4 (F293L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136714	NM_001366078.2(CALHM4):c.805T>G (p.Cys269Gly)	CALHM4 (C125G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136713	NM_001366078.2(CALHM4):c.785A>G (p.Lys262Arg)	CALHM4 (K119R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136712	NM_001366078.2(CALHM4):c.740G>A (p.Arg247His)	CALHM4 (R104H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136711	NM_001366078.2(CALHM4):c.734T>C (p.Met245Thr)	CALHM4 (M59T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136710	NM_001366078.2(CALHM4):c.721C>T (p.Arg241Trp)	CALHM4 (R97W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136709	NM_001366078.2(CALHM4):c.718T>C (p.Ser240Pro)	CALHM4 (S240P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2596194	NM_001366078.2(CALHM4):c.781G>A (p.Val261Ile)	CALHM4 (V117I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 2574685	GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)	ASF1A, CALHM4 +39 more	Copy number loss	6q terminal deletion syndrome	GLikely pathogenic
Select item 2552416	NM_001366078.2(CALHM4):c.572T>C (p.Ile191Thr)	CALHM4 (I5T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427242	NC_000006.11:g.(?_116441236)_(119252888_?)del	ASF1A, CALHM4 +24 more	Deletion	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 2327156	NM_001139444.3(TRAPPC3L):c.62T>C (p.Leu21Pro)	CALHM4, TRAPPC3L (L21P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808570	GRCh37/hg19 6q22.1(chr6:116787149-116953270)x1	CALHM4, CALHM5 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 1527278	GRCh37/hg19 6q22.1-22.31(chr6:116212698-119482708)	DCBLD1, DSE +26 more	Copy number loss	not specified	GPathogenic
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 978186	NC_000006.11:g.116734559_123648104del	ASF1A, CALHM4 +31 more	Deletion	Seizure +1 more	GPathogenic
Select item 974790	GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3	DSE, FAM229B +69 more	Copy number gain	Microcephaly +1 more	GPathogenic
Select item 688010	GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1	AMD1, ASF1A +45 more	Copy number loss	not provided	GPathogenic
Select item 563224	GRCh37/hg19 6q22.1(chr6:116656963-116903944)x3	CALHM4, CALHM5 +4 more	Copy number gain	not provided	GUncertain significance
Select item 563222	GRCh37/hg19 6q21-22.1(chr6:113261042-117842826)x1	CALHM4, CALHM5 +21 more	Copy number loss	not provided	GPathogenic
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 425540	GRCh37/hg19 6q21-22.1(chr6:114318401-116957002)x3	FRK, HS3ST5 +12 more	Copy number gain	not provided	GUncertain significance
Select item 217142	GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1	NT5DC1, TRAPPC3L +36 more	Copy number loss	6q21-6q22.1 deletion	GLikely pathogenic
Select item 180227	NC_000006.11:g.(116681080_116735056)_(119687719_119775014)del	ASF1A, CALHM4 +22 more	Deletion	Tremor +3 more	GPathogenic
Select item 180224	NC_000006.11:g.(112511751_112511752)_(118037595_118037596)del	KPNA5, LAMA4 +25 more	Deletion	Delayed speech and language development +2 more	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 146318	GRCh38/hg38 6q22.1-22.2(chr6:115326962-117935240)x1	CALHM4, CALHM5 +91 more	Copy number loss	See cases	GLikely pathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 58441	GRCh38/hg38 6q22.1(chr6:115220054-117196371)x1	CALHM4, CALHM5 +64 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	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: 44