4-Chloropyridin-3-amine - ClinVar

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Items: 40

The following term was not found in ClinVar: Chloropyridin.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254797	NM_001009999.3(KDM1A):c.2300_2307dup (p.Thr770fs)	KDM1A (T746fs +3 more)	Duplication (frameshift variant)	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	GUncertain significance
Select item 1805913	NM_001009999.3(KDM1A):c.2435G>C (p.Gly812Ala)	KDM1A (G788A +3 more)	Single nucleotide variant (missense variant)	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	GUncertain significance
Select item 204580	NM_015909.4(NBAS):c.558_560del (p.Ile187del)	NBAS (I187del)	Deletion (inframe_deletion +1 more)	Infantile liver failure syndrome 2	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 3299909	NM_001091.4(AOC1):c.1694C>T (p.Ala565Val)	AOC1 (A565V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510073	NM_001091.4(AOC1):c.1703G>A (p.Arg568His)	AOC1 (R568H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388602	NM_001091.4(AOC1):c.1709A>G (p.Lys570Arg)	AOC1 (K570R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127349	NM_001091.4(AOC1):c.1781G>A (p.Arg594His)	AOC1 (R594H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542214	NM_001091.4(AOC1):c.1880A>G (p.Tyr627Cys)	AOC1 (Y646C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522413	NM_001091.4(AOC1):c.1972G>A (p.Glu658Lys)	AOC1 (E677K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127350	NM_001091.4(AOC1):c.1979T>C (p.Ile660Thr)	AOC1 (I679T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 1807607	GRCh37/hg19 7q36.1(chr7:149332630-151498689)x1	ABCB8, ABCF2 +40 more	Copy number loss	not provided	GPathogenic
Select item 2492139	NM_001031709.3(RNLS):c.524C>T (p.Thr175Ile)	RNLS (T175I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259895	NM_001031709.3(RNLS):c.404T>A (p.Ile135Asn)	RNLS (I135N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314958	NM_001031709.3(RNLS):c.402G>C (p.Gln134His)	RNLS (Q134H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 1807839	GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1	ACTA2, ANKRD1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1807623	GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1	ACTA2, ADIRF +56 more	Copy number loss	not provided	GPathogenic
Select item 43076	NM_000257.4(MYH7):c.5588G>A (p.Arg1863Gln)	MYH7 (R1863Q)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance FDA Recognized database
Select item 2318038	NM_020927.3(VAT1L):c.610G>T (p.Val204Phe)	VAT1L (V204F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188267	NM_020927.3(VAT1L):c.638C>G (p.Ala213Gly)	VAT1L (A213G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368926	NM_020927.3(VAT1L):c.685T>G (p.Phe229Val)	VAT1L (F229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258389	NM_020927.3(VAT1L):c.706G>T (p.Val236Leu)	VAT1L (V236L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331878	NM_020927.3(VAT1L):c.715G>A (p.Val239Ile)	VAT1L (V239I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 3127369	NM_009590.4(AOC2):c.1999G>A (p.Gly667Arg)	AOC2 (G667R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300043	NM_003734.4(AOC3):c.1907A>G (p.Gln636Arg)	AOC3 (Q93R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2552333	NM_003734.4(AOC3):c.1966C>G (p.Pro656Ala)	AOC3 (P656A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2360984	NM_003734.4(AOC3):c.1967C>A (p.Pro656His)	AOC3 (P113H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2286004	NM_003734.4(AOC3):c.1996A>G (p.Asn666Asp)	AOC3 (N123D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3300084	NM_003734.4(AOC3):c.2001G>C (p.Glu667Asp)	AOC3 (E667D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2220858	NM_006373.4(VAT1):c.678C>A (p.His226Gln)	VAT1 (H226Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354077	NM_006373.4(VAT1):c.637G>A (p.Glu213Lys)	VAT1 (E213K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233584	NM_006373.4(VAT1):c.628C>T (p.Arg210Cys)	VAT1 (R210C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 40