16502[HGNC] - ClinVar

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Items: 40

	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 2569506	NM_138328.3(RHBDL3):c.92T>C (p.Leu31Pro)	RHBDL3 (L31P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2350550	NM_138328.3(RHBDL3):c.107A>C (p.Glu36Ala)	RHBDL3 (E36A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591699	NM_138328.3(RHBDL3):c.256G>A (p.Ala86Thr)	RHBDL3 (A78T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350103	NM_138328.3(RHBDL3):c.298A>G (p.Ser100Gly)	RHBDL3 (S100G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238026	NM_138328.3(RHBDL3):c.308G>A (p.Arg103His)	RHBDL3 (R42H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556890	NM_138328.3(RHBDL3):c.322C>G (p.Arg108Gly)	RHBDL3 (R108G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316878	NM_138328.3(RHBDL3):c.347G>A (p.Arg116His)	RHBDL3 (R116H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154008	NM_138328.3(RHBDL3):c.349A>T (p.Arg117Trp)	RHBDL3 (R117W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154009	NM_138328.3(RHBDL3):c.830C>T (p.Ser277Phe)	RHBDL3 (S216F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154010	NM_138328.3(RHBDL3):c.853G>A (p.Val285Ile)	RHBDL3 (V187I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485573	NM_138328.3(RHBDL3):c.860C>T (p.Ala287Val)	RHBDL3 (A226V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326979	NM_138328.3(RHBDL3):c.869C>A (p.Ala290Asp)	RHBDL3 (A290D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154011	NM_138328.3(RHBDL3):c.886T>C (p.Trp296Arg)	RHBDL3 (W198R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154012	NM_138328.3(RHBDL3):c.912G>T (p.Lys304Asn)	RHBDL3 (K296N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234482	NM_138328.3(RHBDL3):c.962G>A (p.Arg321Gln)	RHBDL3 (R260Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154013	NM_138328.3(RHBDL3):c.982C>T (p.His328Tyr)	RHBDL3 (H267Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489237	NM_138328.3(RHBDL3):c.986C>T (p.Pro329Leu)	RHBDL3 (P268L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227816	NM_138328.3(RHBDL3):c.989C>T (p.Ser330Leu)	RHBDL3 (S269L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610774	NM_138328.3(RHBDL3):c.1019T>C (p.Phe340Ser)	RHBDL3 (F242S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154006	NM_138328.3(RHBDL3):c.1049G>A (p.Gly350Asp)	RHBDL3 (G342D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154007	NM_138328.3(RHBDL3):c.1094T>C (p.Leu365Pro)	RHBDL3 (L357P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307073	NM_138328.3(RHBDL3):c.1116G>T (p.Trp372Cys)	RHBDL3 (W311C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063509	GRCh37/hg19 17q11.2(chr17:29305509-31246638)x3	C17orf75, CDK5R1 +16 more	Copy number gain	not specified	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 2684843	GRCh37/hg19 17q11.2(chr17:30579124-30861865)x3	C17orf75, CDK5R1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 1526573	GRCh37/hg19 17q11.2-12(chr17:30497948-31819040)	ASIC2, C17orf75 +8 more	Copy number loss	not specified	GUncertain significance
Select item 981056	GRCh37/hg19 17q11.2-12(chr17:29989741-32355632)	COPRS, LRRC37B +12 more	Copy number loss	Nanophthalmos 4 +2 more	GPathogenic
Select item 687223	GRCh37/hg19 17q11.2(chr17:30443761-30620270)x3	RHBDL3, RHOT1	Copy number gain	not provided	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 564427	GRCh37/hg19 17q11.2(chr17:30484937-31108798)x3	MYO1D, PSMD11 +5 more	Copy number gain	not provided	GUncertain significance
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 443455	GRCh37/hg19 17q11.2-12(chr17:29578241-32142196)x1	ASIC2, C17orf75 +18 more	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 394235	GRCh37/hg19 17q11.2(chr17:30131154-30594822)x1	COPRS, LRRC37B +4 more	Copy number loss	See cases	GUncertain significance
Select item 253816	GRCh37/hg19 17q11.2(chr17:29782998-30651260)x1	RHBDL3, RHOT1 +6 more	Copy number loss	See cases	GUncertain significance

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Items: 40