BLMH[gene] - ClinVar

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

Search results

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 7248	NM_000386.4(BLMH):c.1327A>G (p.Ile443Val)	BLMH, LOC126862530 (I443V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2265168	NM_000386.4(BLMH):c.1318G>A (p.Glu440Lys)	BLMH, LOC126862530 (E440K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596905	NM_000386.4(BLMH):c.1297G>A (p.Val433Met)	BLMH, LOC126862530 (V433M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261067	NM_000386.4(BLMH):c.1274A>G (p.Asp425Gly)	BLMH, LOC126862530 (D425G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610464	NM_000386.4(BLMH):c.1087C>G (p.Leu363Val)	BLMH (L363V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608728	NM_000386.4(BLMH):c.998A>C (p.Asn333Thr)	BLMH (N333T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472531	NM_000386.4(BLMH):c.998A>G (p.Asn333Ser)	BLMH (N333S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371948	NM_000386.4(BLMH):c.994T>G (p.Phe332Val)	BLMH (F332V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379208	NM_000386.4(BLMH):c.941C>T (p.Ala314Val)	BLMH (A314V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384646	NM_000386.4(BLMH):c.914T>C (p.Ile305Thr)	BLMH (I305T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134129	NM_000386.4(BLMH):c.844A>G (p.Lys282Glu)	BLMH (K282E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134128	NM_000386.4(BLMH):c.842A>G (p.Asn281Ser)	BLMH (N281S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406210	NM_000386.4(BLMH):c.689C>T (p.Thr230Ile)	BLMH (T230I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490215	NM_000386.4(BLMH):c.595G>A (p.Gly199Arg)	BLMH (G199R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606024	NM_000386.4(BLMH):c.350C>G (p.Ala117Gly)	BLMH (A117G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545779	NM_000386.4(BLMH):c.347G>A (p.Ser116Asn)	BLMH (S116N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2550399	NM_000386.4(BLMH):c.215G>A (p.Arg72Gln)	BLMH (R72Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550048	NM_000386.4(BLMH):c.190A>G (p.Ile64Val)	BLMH (I64V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2273608	NM_000386.4(BLMH):c.127C>T (p.Arg43Trp)	BLMH (R43W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412022	NM_000386.4(BLMH):c.43A>T (p.Ile15Leu)	BLMH (I15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261066	NM_000386.4(BLMH):c.38C>T (p.Ala13Val)	BLMH (A13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292478	NM_000386.4(BLMH):c.23C>T (p.Ser8Leu)	BLMH (S8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242851	NC_000017.10:g.(?_28524804)_(29624377_?)del	ADAP2, ATAD5 +11 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3063487	GRCh37/hg19 17q11.2(chr17:28277040-30903559)x1	ADAP2, ATAD5 +28 more	Copy number loss	not specified	GPathogenic
Select item 2685600	GRCh37/hg19 17q11.2(chr17:28387597-30812008)x1	ADAP2, ATAD5 +26 more	Copy number loss	not provided	GPathogenic
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2422714	NC_000017.10:g.(?_27573882)_(29576157_?)del	CORO6, ABHD15 +21 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 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

Search results

Items: 33