ClinVar for Gene (Select 1270) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268263	NM_000614.4(CNTF):c.160G>T (p.Asp54Tyr)	CNTF, ZFP91-CNTF (D54Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268262	NM_000614.4(CNTF):c.548A>C (p.Gln183Pro)	CNTF, ZFP91-CNTF (Q183P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268261	NM_000614.4(CNTF):c.430A>T (p.Ile144Phe)	CNTF, ZFP91-CNTF (I144F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3146685	NM_000614.4(CNTF):c.488A>G (p.Gln163Arg)	CNTF, ZFP91-CNTF (Q163R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146684	NM_000614.4(CNTF):c.407G>A (p.Arg136His)	CNTF, ZFP91-CNTF (R136H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146683	NM_000614.4(CNTF):c.38G>A (p.Arg13His)	CNTF, ZFP91-CNTF (R13H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146682	NM_000614.4(CNTF):c.364C>G (p.Gln122Glu)	CNTF, ZFP91-CNTF (Q122E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146681	NM_000614.4(CNTF):c.148C>A (p.Leu50Met)	CNTF, ZFP91-CNTF (L50M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2641806	NM_000614.4(CNTF):c.565C>T (p.Arg189Cys)	CNTF, ZFP91-CNTF (R189C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2617349	NM_000614.4(CNTF):c.557T>G (p.Ile186Ser)	CNTF, ZFP91-CNTF (I186S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589591	NM_000614.4(CNTF):c.462G>C (p.Lys154Asn)	CNTF, ZFP91-CNTF (K154N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531177	NM_000614.4(CNTF):c.530G>A (p.Arg177His)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529186	NM_000614.4(CNTF):c.56G>T (p.Arg19Leu)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487946	NM_000614.4(CNTF):c.286G>C (p.Val96Leu)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485986	NM_000614.4(CNTF):c.494T>G (p.Leu165Arg)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357016	NM_000614.4(CNTF):c.83G>A (p.Arg28His)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307772	NM_000614.4(CNTF):c.560C>T (p.Pro187Leu)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285258	NM_000614.4(CNTF):c.56G>A (p.Arg19His)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284727	NM_000614.4(CNTF):c.580A>G (p.Ile194Val)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225361	NM_000614.4(CNTF):c.568G>A (p.Gly190Arg)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221297	NM_000614.4(CNTF):c.266G>C (p.Arg89Thr)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210372	NM_000614.4(CNTF):c.58T>C (p.Ser20Pro)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 972998	GRCh37/hg19 11q12.1(chr11:58237819-58800374)x3	CNTF, GLYAT +5 more	Copy number gain	not provided	Gnot provided
Select item 768450	NM_000614.4(CNTF):c.146A>G (p.Asn49Ser)	CNTF, ZFP91-CNTF (N49S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 17493	NM_000614.4(CNTF):c.115-6G>A	CNTF, ZFP91-CNTF	Single nucleotide variant (intron variant)	not provided	GBenign

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Links from Gene

Items: 34