ClinVar for Gene (Select 388333) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2647458	NM_001394956.1(SPDYE4):c.255G>A (p.Thr85=)	SPDYE4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619613	NM_001394956.1(SPDYE4):c.365T>C (p.Leu122Pro)	SPDYE4 (L122P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602137	NM_001394956.1(SPDYE4):c.617G>A (p.Arg206His)	SPDYE4 (R206H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593726	NM_001394956.1(SPDYE4):c.73G>A (p.Glu25Lys)	SPDYE4 (E25K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2515948	NM_001394956.1(SPDYE4):c.19C>T (p.Arg7Cys)	SPDYE4 (R7C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508752	NM_001394956.1(SPDYE4):c.218G>A (p.Arg73His)	SPDYE4 (R73H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486998	NM_001394956.1(SPDYE4):c.521C>A (p.Ala174Asp)	SPDYE4 (A174D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382602	NM_001394956.1(SPDYE4):c.596A>G (p.Tyr199Cys)	SPDYE4 (Y199C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379238	NM_001394956.1(SPDYE4):c.439G>A (p.Gly147Ser)	SPDYE4 (G147S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357599	NM_001394956.1(SPDYE4):c.226G>C (p.Glu76Gln)	SPDYE4 (E76Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349685	NM_001394956.1(SPDYE4):c.284G>A (p.Arg95Gln)	SPDYE4 (R95Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348099	NM_001394956.1(SPDYE4):c.64C>T (p.Arg22Trp)	SPDYE4 (R22W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217933	NM_001394956.1(SPDYE4):c.39G>T (p.Glu13Asp)	SPDYE4 (E13D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526569	GRCh37/hg19 17p13.1(chr17:7929776-9995862)	ALOX12B, ALOX15B +36 more	Copy number gain	not specified	GUncertain significance
Select item 1526567	GRCh37/hg19 17p13.1(chr17:7241916-8692213)	ACAP1, ALOX12B +65 more	Copy number loss	not specified	GPathogenic
Select item 564397	GRCh37/hg19 17p13.1(chr17:8412394-8729543)x3	CCDC42, MFSD6L +3 more	Copy number gain	not provided	GUncertain significance
Select item 564396	GRCh37/hg19 17p13.1(chr17:8219814-8676240)x3	ARHGEF15, CCDC42 +7 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 442648	GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3	ALOX12B, ALOX15B +61 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	LOC126862500, LOC126862501 +461 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 33