ClinVar for Gene (Select 81565) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298958	NM_030808.5(NDEL1):c.20C>T (p.Pro7Leu)	NDEL1 (P7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298957	NM_030808.5(NDEL1):c.1004C>T (p.Ser335Leu)	NDEL1 (S335L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3298956	NM_030808.5(NDEL1):c.995C>T (p.Ser332Leu)	NDEL1 (S332L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3185809	NM_030808.5(NDEL1):c.896A>G (p.Asn299Ser)	NDEL1 (N299S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185793	NM_030808.5(NDEL1):c.1013C>T (p.Pro338Leu)	NDEL1 (P338L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
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 2596308	NM_030808.5(NDEL1):c.997C>T (p.Arg333Cys)	NDEL1 (R333C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2593804	NM_030808.5(NDEL1):c.914G>A (p.Arg305Gln)	NDEL1 (R305Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2549713	NM_030808.5(NDEL1):c.985C>A (p.Leu329Met)	NDEL1 (L329M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2517056	NM_030808.5(NDEL1):c.695C>T (p.Pro232Leu)	NDEL1 (P232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380925	NM_030808.5(NDEL1):c.940A>C (p.Lys314Gln)	NDEL1 (K314Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380342	NM_030808.5(NDEL1):c.571A>G (p.Thr191Ala)	NDEL1 (T191A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373411	NM_030808.5(NDEL1):c.868A>T (p.Asn290Tyr)	NDEL1 (N290Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206440	NM_030808.5(NDEL1):c.397A>G (p.Ile133Val)	NDEL1 (I133V)	Single nucleotide variant (missense variant)	not specified	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 687831	GRCh37/hg19 17p13.1(chr17:7676383-8350870)x3	ALOX12B, ALOX15B +32 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	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 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 152524	GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3	ALOX12B, ALOX15B +110 more	Copy number gain	See cases	GUncertain significance
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 29