CSHL1[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 3078039	NM_022579.3(CSHL1):c.574G>A (p.Gly192Arg)	CSHL1 (G130R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078038	NM_022579.3(CSHL1):c.540C>G (p.Asn180Lys)	CSHL1 (N118K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078037	NM_022579.3(CSHL1):c.494T>G (p.Leu165Arg)	CSHL1 (L142R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2252016	NM_022579.3(CSHL1):c.491A>G (p.His164Arg)	CSHL1 (H70R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078036	NM_022579.3(CSHL1):c.421G>T (p.Asp141Tyr)	CSHL1 (D79Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528881	NM_022579.3(CSHL1):c.403G>C (p.Asp135His)	CSHL1 (D41H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730143	NM_022579.3(CSHL1):c.385A>G (p.Thr129Ala)	CSHL1 (T106A +6 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 730144	NM_022579.3(CSHL1):c.381C>G (p.Thr127=)	CSHL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 730145	NM_022579.3(CSHL1):c.380C>T (p.Thr127Ile)	CSHL1 (T127I +6 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3269775	NM_022579.3(CSHL1):c.350G>A (p.Arg117Gln)	CSHL1 (R34Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358530	NM_022579.3(CSHL1):c.349C>T (p.Arg117Trp)	CSHL1 (R117W +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2648084	NM_022579.3(CSHL1):c.306+1G>A	CSHL1	Single nucleotide variant (splice donor variant)	not provided	GLikely benign
Select item 2367548	NM_022579.3(CSHL1):c.302A>T (p.Lys101Ile)	CSHL1 (K101I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269773	NM_022579.3(CSHL1):c.293C>T (p.Thr98Met)	CSHL1 (T36M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078035	NM_022579.3(CSHL1):c.285G>C (p.Met95Ile)	CSHL1 (M12I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369432	NM_022579.3(CSHL1):c.240G>C (p.Gln80His)	CSHL1 (Q41H +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3269774	NM_022579.3(CSHL1):c.236C>T (p.Ser79Phe)	CSHL1 (S19F +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2459590	NM_022579.3(CSHL1):c.215A>C (p.Lys72Thr)	CSHL1 (K12T +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2561596	NM_022579.3(CSHL1):c.193G>A (p.Ala65Thr)	CSHL1 (A5T +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2399546	NM_022579.3(CSHL1):c.136G>A (p.Ala46Thr)	CSHL1 (A46T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306843	NM_022579.3(CSHL1):c.133C>G (p.Arg45Gly)	CSHL1 (R45G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277848	NM_022579.3(CSHL1):c.77C>T (p.Ala26Val)	CSHL1 (A26V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297079	NM_022579.3(CSHL1):c.53T>C (p.Leu18Pro)	CSHL1 (L18P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473063	NM_022579.3(CSHL1):c.17G>A (p.Arg6Gln)	CSHL1 (R6Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1723212	NM_000515.5(GH1):c.11-8C>T	CSHL1, GH1 +1 more	Single nucleotide variant (intron variant)	Ateleiotic dwarfism +1 more	GConflicting classifications of pathogenicity
Select item 3148898	GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3	ACE, APPBP2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 1808405	GRCh37/hg19 17q23.3(chr17:61838634-62465444)x4	CCDC47, CD79B +16 more	Copy number gain	not provided	GUncertain significance
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
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 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic
Select item 58702	GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3	ACE, APOH +48 more	Copy number gain	See cases	GPathogenic

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Items: 36