ClinVar for Gene (Select 84315) - ClinVar

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

Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295546	NM_032355.3(MON1A):c.40G>C (p.Glu14Gln)	LOC129936775, MON1A (E14Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295545	NM_032355.4(MON1A):c.307G>T (p.Gly103Cys)	MON1A (G103C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295544	NM_032355.4(MON1A):c.391G>A (p.Ala131Thr)	MON1A (A131T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295543	NM_032355.4(MON1A):c.1652C>T (p.Thr551Met)	MON1A (T389M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295542	NM_032355.4(MON1A):c.172G>A (p.Glu58Lys)	MON1A (E58K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295541	NM_032355.4(MON1A):c.583G>A (p.Asp195Asn)	MON1A (D195N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295540	NM_032355.4(MON1A):c.163C>T (p.Arg55Cys)	MON1A (R55C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197307	NM_032355.4(MON1A):c.533T>C (p.Leu178Pro)	MON1A (L178P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197154	NM_032355.4(MON1A):c.196G>A (p.Gly66Arg)	MON1A (G66R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197068	NM_032355.4(MON1A):c.88G>C (p.Glu30Gln)	MON1A (E30Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197035	NM_032355.4(MON1A):c.76A>T (p.Met26Leu)	MON1A (M26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196936	NM_032355.4(MON1A):c.34G>A (p.Glu12Lys)	MON1A (E12K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196901	NM_032355.4(MON1A):c.4G>A (p.Ala2Thr)	MON1A (A2T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196841	NM_032355.4(MON1A):c.-56T>C	LOC129936775, MON1A	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3196774	NM_032355.4(MON1A):c.1637G>A (p.Arg546His)	MON1A (R546H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196655	NM_032355.4(MON1A):c.1508A>G (p.Asn503Ser)	MON1A (N341S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196624	NM_032355.4(MON1A):c.1388T>C (p.Ile463Thr)	MON1A (I463T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196589	NM_032355.4(MON1A):c.1295C>T (p.Thr432Ile)	MON1A (T270I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196437	NM_032355.4(MON1A):c.1147T>G (p.Ser383Ala)	MON1A (S221A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196317	NM_032355.4(MON1A):c.-175G>C	LOC129936775, MON1A	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3196275	NM_032355.4(MON1A):c.-191A>T	LOC129936775, MON1A	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2601862	NM_032355.4(MON1A):c.-138G>A	LOC129936775, MON1A	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2522108	NM_032355.4(MON1A):c.1640T>A (p.Leu547His)	MON1A (L547H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515087	NM_032355.4(MON1A):c.1088C>T (p.Ala363Val)	MON1A (A201V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484028	NM_032355.4(MON1A):c.553A>T (p.Met185Leu)	MON1A (M185L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475012	NM_032355.4(MON1A):c.1291C>T (p.Arg431Cys)	MON1A (R269C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470713	NM_032355.4(MON1A):c.316C>T (p.Arg106Trp)	MON1A (R106W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465476	NM_032355.4(MON1A):c.131C>T (p.Ala44Val)	MON1A (A44V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426218	NC_000003.11:g.(?_49866536)_(50540854_?)dup	CACNA2D2, CAMKV +23 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 2382570	NM_032355.4(MON1A):c.1166C>G (p.Thr389Ser)	MON1A (T227S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379926	NM_032355.4(MON1A):c.977G>A (p.Arg326His)	MON1A (R326H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365533	NM_032355.4(MON1A):c.68G>T (p.Gly23Val)	MON1A (G23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361172	NM_032355.4(MON1A):c.-31G>T	LOC129936775, MON1A	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2346602	NM_032355.4(MON1A):c.142G>A (p.Gly48Ser)	MON1A (G48S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326569	NM_032355.4(MON1A):c.1292G>A (p.Arg431His)	MON1A (R269H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308913	NM_032355.4(MON1A):c.403C>T (p.Pro135Ser)	MON1A (P135S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300476	NM_032355.4(MON1A):c.1538C>T (p.Ala513Val)	MON1A (A513V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291337	NM_032355.4(MON1A):c.1112A>G (p.Lys371Arg)	MON1A (K209R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263996	NM_032355.4(MON1A):c.1588G>A (p.Val530Ile)	MON1A (V368I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263145	NM_032355.4(MON1A):c.263G>C (p.Arg88Pro)	MON1A (R88P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259469	NM_032355.4(MON1A):c.-200G>A	LOC129936775, MON1A	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2245626	NM_032355.4(MON1A):c.1613G>A (p.Arg538His)	MON1A (R538H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216112	NM_032355.4(MON1A):c.50C>T (p.Thr17Ile)	MON1A (T17I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214298	NM_032355.4(MON1A):c.370C>T (p.Pro124Ser)	MON1A (P124S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1456135	NC_000003.11:g.(?_49547968)_(50685477_?)del	AMIGO3, APEH +38 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	AMIGO3, AMT +62 more	Deletion	Chilblain lupus 1 +2 more	GPathogenic
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	AMIGO3, AMT +64 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 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: 52