83871[geneid] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147274	GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3	ALDOC, BLTP2 +88 more	Copy number gain	See cases	GBenign
Select item 2522750	NM_031934.6(RAB34):c.758A>G (p.Lys253Arg)	RAB34 (K231R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2271247	NM_031934.6(RAB34):c.710T>C (p.Val237Ala)	RAB34 (V215A +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3150686	NM_031934.6(RAB34):c.697A>G (p.Ile233Val)	RAB34 (I233V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2365682	NM_031934.6(RAB34):c.694C>T (p.Arg232Cys)	RAB34 (R210C +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2506967	NM_031934.6(RAB34):c.691C>T (p.Arg231Ter)	RAB34 (R209* +4 more)	Single nucleotide variant (nonsense +2 more)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 2921270	NM_031934.6(RAB34):c.652G>A (p.Glu218Lys)	RAB34 (E275K +3 more)	Single nucleotide variant (missense variant +2 more)	Orofaciodigital syndrome 20	GPathogenic
Select item 3150685	NM_031934.6(RAB34):c.637G>T (p.Ala213Ser)	RAB34 (A205S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2921273	NM_031934.6(RAB34):c.632G>A (p.Arg211His)	RAB34 (R189H +3 more)	Single nucleotide variant (missense variant +2 more)	Orofaciodigital syndrome 20	GPathogenic
Select item 3150684	NM_031934.6(RAB34):c.631C>T (p.Arg211Cys)	RAB34 (R203C +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3150683	NM_031934.6(RAB34):c.622T>G (p.Phe208Val)	RAB34 (F186V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2921269	NM_031934.6(RAB34):c.605G>T (p.Gly202Val)	RAB34 (G202V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3150681	NM_031934.6(RAB34):c.583T>A (p.Trp195Arg)	RAB34 (W173R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2528505	NM_031934.6(RAB34):c.543A>T (p.Lys181Asn)	RAB34 (K173N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471982	NM_031934.6(RAB34):c.538G>A (p.Glu180Lys)	RAB34 (E237K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396788	NM_031934.6(RAB34):c.515C>T (p.Thr172Ile)	RAB34 (T230I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258081	NM_031934.6(RAB34):c.457_459del (p.Glu153del)	RAB34 (E131del +3 more)	Deletion (inframe_deletion +1 more)	Orofaciodigital syndrome 20	GUncertain significance
Select item 2605389	NM_031934.6(RAB34):c.342C>G (p.Phe114Leu)	RAB34 (F92L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2506966	NM_031934.6(RAB34):c.254T>C (p.Ile85Thr)	RAB34 (I142T +3 more)	Single nucleotide variant (missense variant +1 more)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 3150680	NM_031934.6(RAB34):c.213G>A (p.Arg71=)	RAB34	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2239555	NM_031934.6(RAB34):c.118T>G (p.Cys40Gly)	NARR, RAB34 (L187R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556975	NM_031934.6(RAB34):c.85C>T (p.His29Tyr)	NARR, RAB34 (H86Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150679	NM_031934.6(RAB34):c.53A>C (p.Gln18Pro)	NARR, RAB34 (Q75P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3312135	NM_001144943.1(RAB34):c.97C>G (p.Arg33Gly)	RAB34 (R33G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647601	NM_031934.4(RAB34):c.-34C>A	RAB34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2425303	NC_000017.10:g.(?_26684694)_(27581367_?)dup	ALDOC, BLTP2 +29 more	Duplication	not provided	GUncertain significance
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	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

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Items: 35