ClinVar for Gene (Select 642) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3261066	NM_000386.4(BLMH):c.38C>T (p.Ala13Val)	BLMH (A13V)	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 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 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 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 2606024	NM_000386.4(BLMH):c.350C>G (p.Ala117Gly)	BLMH (A117G)	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 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 2545779	NM_000386.4(BLMH):c.347G>A (p.Ser116Asn)	BLMH (S116N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2472531	NM_000386.4(BLMH):c.998A>G (p.Asn333Ser)	BLMH (N333S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2412022	NM_000386.4(BLMH):c.43A>T (p.Ile15Leu)	BLMH (I15L)	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 2384646	NM_000386.4(BLMH):c.914T>C (p.Ile305Thr)	BLMH (I305T)	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 2371948	NM_000386.4(BLMH):c.994T>G (p.Phe332Val)	BLMH (F332V)	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 2273608	NM_000386.4(BLMH):c.127C>T (p.Arg43Trp)	BLMH (R43W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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
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

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Links from Gene

Items: 33